PRF Cell and Tissue
Bank Publications
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HGADFN001
Age-dependent loss of MMP-3 in Hutchinson-Gilford progeria syndrome.
Harten IA, Zahr RS, Lemire JM, Machan JT, Moses MA, Doiron RJ, Curatolo AS, Rothman FG, Wight TN, Toole BP, Gordon LB. J Gerontol A Biol Sci Med Sci. 2011 Nov;66(11):1201-7.
The mutant form of lamin A that causes Hutchinson-Gilford progeria is a biomarker of cellular aging in human skin.
McClintock D, Ratner D, Lokuge M, Owens DM, Gordon LB, Collins FS, Djabali K. PLoS Um. 2007 Dec 5;2(12):e1269.
Hutchinson-Gilford progeria mutant lamin A primarily targets human vascular cells as detected by an anti-Lamin A G608G antibody.
McClintock D, Gordon LB, Djabali K. Proc Natl Acad Sci U S A. 2006 Feb 14;103(7):2154-9.
Aggrecan expression is substantially and abnormally upregulated in Hutchinson-Gilford Progeria Syndrome dermal fibroblasts.
Lemire JM, Patis C, Gordon LB, Sandy JD, Toole BP, Weiss AS. Mech Ageing Dev. 2006 Aug;127(8):660-9.
Rescue of heterochromatin organization in Hutchinson-Gilford progeria by drug treatment.
Columbaro M, Capanni C, Mattioli E, Novelli G, Parnaik VK, Squarzoni S, Maraldi NM, Lattanzi G. Cell Mol Life Sci. 2005 Nov;62(22):2669-78.
Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome.
Eriksson M, Brown WT, Gordon LB, Glynn MW, Singer J, Scott L, Erdos MR, Robbins CM, Moses TY, Berglund P, Dutra A, Pak E, Durkin S, Csoka AB, Boehnke M, Glover TW, Collins FS. Natureza. 2003 May 15;423(6937):293-8.
HGADFN003
Enhancing Cellular Homeostasis: Targeted Botanical Compounds Boost Cellular Health Functions in Normal and Premature Aging Fibroblasts
Hartinger R, Singh K, Leverett J, Djabali K. Biomolecules. 2024;14(10):1310. Published 2024 Oct 16. doi:10.3390/biom14101310
A grelina atrasa o envelhecimento prematuro na síndrome de progeria de Hutchinson-Gilford
Ferreira-Marques M, Carvalho A, Franco AC, et al. Ghrelin atrasa o envelhecimento prematuro na síndrome de progeria de Hutchinson-Gilford [publicado online antes da impressão, 19 de outubro de 2023]. Envelhecimento celular. 2023;e13983. doi:10.1111/acel.13983
Impacto do tratamento combinado com baricitinibe e FTI na adipogênese na síndrome de Hutchinson-Gilford Progeria e outras laminopatias lipodistróficas
Hartinger R, Lederer EM, Schena E, Lattanzi G, Djabali K. Cells. 2023;12(10):1350. Published 2023 May 9. doi:10.3390/cells12101350
O peptídeo C-terminal exclusivo da progerina melhora o fenótipo da síndrome de progeria de Hutchinson-Gilford ao resgatar o BUBR1.
Zhang N, Hu Q, Sui T, Fu L, Zhang X, Wang Y, Zhu X, Huang B, Lu J, Li Z, Zhang Y. Nat Aging. 2023 fev;3(2):185-201. doi: 10.1038/s43587-023-00361-w. Epub 2023 fev 2. Errata em: Nat Aging. 2023 mai 2;: PMID: 37118121; PMCID: PMC10154249.
Anti-hsa-miR-59 alivia a senescência prematura associada à síndrome de progeria de Hutchinson-Gilford em camundongos
Hu Q, Zhang N, Sui T, et al. [publicado online antes da impressão, 16 de novembro de 2022]. EMBOJ. 2022;e110937. doi:10.15252/embj.2022110937
Estabelecimento e caracterização de linhas celulares de fibroblastos de Hutchinson-Gilford Progeria imortalizadas por hTERT
Lin H, Mensch J, Haschke M, et al. Cells. 2022;11(18):2784. Published 2022 Sep 6. doi:10.3390/cells11182784
Impacto do tratamento com MnTBAP e Baricitinibe em fibroblastos de progeria de Hutchinson-Gilford
Vehns E, Arnold R, Djabali K. Pharmaceuticals (Basel). 2022;15(8):945. Published 2022 Jul 29. doi:10.3390/ph15080945
SerpinE1 conduz uma sinalização patogênica autônoma da célula na síndrome de progeria de Hutchinson-Gilford
Catarinella G, Nicoletti C, Bracaglia A, et al. Cell Death Dis. 2022;13(8):737. Published 2022 Aug 26. doi:10.1038/s41419-022-05168-y
A curvatura gaussiana dilui a lâmina nuclear, favorecendo a ruptura nuclear, especialmente em altas taxas de deformação
Pfeifer CR, Tobin MP, Cho S, et al. Nucleus. 2022;13(1):129-143. doi:10.1080/19491034.2022.2045726
Terapia baseada em isoprenilcisteína carboxilmetiltransferase para síndrome de progeria de Hutchinson-Gilford
Marcos-Ramiro B, Gil-Ordóñez A, Marín-Ramos NI, et al. ACS Cent Sci. 2021;7(8):1300-1310. doi:10.1021/acscentsci.0c01698
Terapia com telomerase reverte senescência vascular e prolonga a vida útil em camundongos com progeria
Mojiri A, Walther BK, Jiang C, et al. [published online ahead of print, 2021 Aug 14]. Eur Coração J. 2021;ehab547. doi:10.1093/eurheartj/ehab547
Baricitinib, a JAK-STAT Inhibitor, Reduces the Cellular Toxicity of the Farnesyltransferase Inhibitor Lonafarnib in Progeria Cells
Arnold R, Vehns E, Randl H, Djabali K. Int J Mol Ciência. 2021;22(14):7474. Published 2021 Jul 12. doi:10.3390/ijms22147474
Impacto da expressão de progerina na adipogênese em células precursoras derivadas da pele de progeria de Hutchinson-Gilford
Najdi F, Krüger P, Djabali K. Células. 2021;10(7):1598. Published 2021 Jun 25. doi:10.3390/cells10071598
Self-assembly of multi-component mitochondrial nucleoids via phase separation.
Feric M, Demarest TG, Tian J, Croteau DL, Bohr VA, Misteli T. EMBO J. 2021 Mar 15;40(6):e107165. doi: 10.15252/embj.2020107165. Epub 2021 Feb 23. PMID: 33619770; PMCID: PMC7957436.
Nuclear Pore Complexes Cluster in Dysmorphic Nuclei of Normal and Progeria Cells during Replicative Senescence.
Röhrl JM, Arnold R, Djabali K. Cells. 2021 Jan 14;10(1):153. doi: 10.3390/cells10010153. PMID: 33466669; PMCID: PMC7828780.
Inhibition of JAK-STAT Signaling With Baricitinib Reduces Inflammation and Improves Cellular Homeostasis in Progeria Cells
Liu C, Arnold R, Henriques G, Djabali K. Células 2019;8(10):1276. Published 2019 Oct 18. doi:10.3390/cells8101276
Analysis of Somatic Mutations Identifies Signs of Selection During in Vitro Aging of Primary Dermal Fibroblasts
Narisu N, Rothwell R, Vrtačnik P, et al. Envelhecimento celular 2019;18(6):e13010. doi:10.1111/acel.13010
Transient Introduction of Human Telomerase mRNA Improves Hallmarks of Progeria Cells
Li Y, Zhou G, Bruno IG, et al. Envelhecimento celular. 2019;18(4):e12979. doi:10.1111/acel.12979
Remoção autofágica de peptídeos de lamina carboxi-terminal farnesilados
Lu X, Djabali K. Células 2018;7(4):33. Published 2018 Apr 23. doi:10.3390/cells7040033
Targeting the Phospholipase A2 Receptor Ameliorates Premature Aging Phenotypes
Griveau A, Wiel C, Le Calvé B, et al. Envelhecimento celular 2018;17(6):e12835. doi:10.1111/acel.12835
A Cell-Intrinsic Interferon-like Response Links Replication Stress to Cellular Aging Caused by Progerin.
Kreienkamp R, Graziano S, Coll-Bonfill N, Bedia-Diaz G, Cybulla E, Vindigni A, Dorsett D, Kubben N, Batista LFZ, Gonzalo S. Representante de Célula. 2018 Feb 20;22(8):2006-2015.
Epigenetic clock for skin and blood cells applied to Hutchinson Gilford Progeria Syndrome and ex vivo studies
Horvath S, Oshima J, Martin GM, et al. Envelhecimento (Albany NY). 2018;10(7):1758-1775. doi:10.18632/aging.101508
Nucleoplasmic lamins define growth-regulating functions of lamina-associated polypeptide 2α in progeria cells. Vidak S, Georgiou K, Fichtinger P, Naetar N, Dechat T, Foisner R. J Cell Sci. 2017 Dec 28. pii: jcs.208462. doi: 10.1242/jcs.208462. [Epub ahead of print]
Intermittent treatment with farnesyltransferase inhibitor and sulforaphane improves cellular homeostasis in Hutchinson-Gilford progeria fibroblasts. Gabriel D, Shafry DD, Gordon LB, Djabali K. Oncotarget. 2017 Jul 18;8(39):64809-64826. doi: 10.18632/oncotarget.19363. eCollection 2017 Sep 12.
Temsirolimus Partially Rescues the Hutchinson-Gilford Progeria Cellular Phenotype.
Gabriel D, Gordon LB, Djabali K. PLoS Um 2016;11(12):e0168988. Published 2016 Dec 29. doi:10.1371/journal.pone.0168988
Progerin Impairs Chromosome Maintenance by Depleting CENP-F From Metaphase Kinetochores in Hutchinson-Gilford Progeria Fibroblasts
Eisch V, Lu X, Gabriel D, Djabali K. Oncotarget 2016;7(17):24700-24718. doi:10.18632/oncotarget.8267
Reprogramming progeria fibroblasts re-establishes a normal epigenetic landscape. Chen Z, Chang WY, Etheridge A, Strickfaden H, Jin Z, Palidwor G, Cho JH, Wang K, Kwon SY, Doré C, Raymond A, Hotta A, Ellis J, Kandel RA, Dilworth FJ, Perkins TJ, Hendzel MJ, Galas DJ, Stanford WL. .Envelhecimento celular. 2017 Jun 8. [Epub ahead of print]Permanent farnesylation of lamin A mutants linked to progeria impairs its phosphorylation at serine 22 during interphase. Moiseeva O, Lopes-Paciencia S, Huot G, Lessard F, Ferbeyre G. Envelhecimento . 2016 Feb;8(2):366-81.
Permanent farnesylation of lamin A mutants linked to progeria impairs its phosphorylation at serine 22 during interphase.
Moiseeva O, Lopes-Paciencia S, Huot G, Lessard F, Ferbeyre G. Envelhecimento 2016 Feb;8(2):366-81.
Vitamin D Receptor Signaling Improves Hutchinson-Gilford Progeria Syndrome Cellular Phenotypes
Kreienkamp R, Croke M, Neumann MA, et al. Oncotarget 2016;7(21):30018-30031. doi:10.18632/oncotarget.9065
Lamin A Is an Endogenous SIRT6 Activator and Promotes SIRT6-Mediated DNA Repair. Ghosh S, Liu B, Wang Y, Hao Q, Zhou Z. Representante de Célula. 2015 Nov 17;13(7):1396-1406. doi: 10.1016/j.celrep.2015.10.006. Epub 2015 Nov 5. PMID:26549451
Proliferation of progeria cells is enhanced by lamina-associated polypeptide 2α (LAP2α) through expression of extracellular matrix proteins.
Vidak S, Kubben N, Dechat T, Foisner R. Genes & Development. 2015 Oct 1;29(19):2022-36.
Sulforaphane enhances progerin clearance in Hutchinson-Gilford progeria fibroblasts.
Gabriel D, Roedl D, Gordon LB, Djabali K. Envelhecimento celular. 2014 Dec 16: 1-14.
Depleting the methyltransferase Suv39h1 improves DNA repair and extends lifespan in a progeria mouse model.
Liu B, Wang Z, Zhang L, Ghosh S, Zheng H, Zhou Z.Comunidade Nacional. 2013;4:1868.
Naïve adult stem cells from patients with Hutchinson-Gilford progeria syndrome express low levels of progerin in vivo.
Wenzel V, Roedl D, Gabriel D, Gordon LB, Herlyn M, Schneider R, Ring J, Djabali K.
Biol Open. 2012 Jun 15;1(6):516-26. Epub 2012 Apr 16
Age-dependent loss of MMP-3 in Hutchinson-Gilford progeria syndrome.
Harten IA, Zahr RS, Lemire JM, Machan JT, Moses MA, Doiron RJ, Curatolo AS, Rothman FG, Wight TN, Toole BP, Gordon LB. J Gerontol A Biol Sci Med Sci. 2011 Nov;66(11):1201-7.
Progerin and telomere dysfunction collaborate to trigger cellular senescence in normal human fibroblasts.
Cao K, Blair CD, Faddah DA, Kieckhaefer JE, Olive M, Erdos MR, Nabel EG, Collins FS. J Clin Invest. 2011 Jul 1;121(7):2833-44
Defective lamin A-Rb signaling in Hutchinson-Gilford Progeria Syndrome and reversal by farnesyltransferase inhibition.
Marji J, O’Donoghue SI, McClintock D, Satagopam VP, Schneider R, Ratner D, Worman HJ, Gordon LB, Djabali K. PLoS Um. 2010 Jun 15;5(6):e11132.
Effect of progerin on the accumulation of oxidized proteins in fibroblasts from Hutchinson Gilford progeria patients.
Viteri G, Chung YW, Stadtman ER. Mech Ageing Dev. 2010 Jan;131(1):2-8.
Ageing-related chromatin defects through loss of the NURD complex.
Pegoraro G, Kubben N, Wickert U, Göhler H, Hoffmann K, Misteli T. Nat Cell Biol. 2009 Oct;11(10):1261-7.
Lamin A-dependent misregulation of adult stem cells associated with accelerated ageing.
Scaffidi P, Misteli T. Nat Cell Biol. 2008 Apr;10(4):452-9.
Perturbation of wild-type lamin A metabolism results in a progeroid phenotype.
Candelario J, Sudhakar S, Navarro S, Reddy S, Comai L. Envelhecimento celular. 2008 Jun;7(3):355-67
Alterations in mitosis and cell cycle progression caused by a mutant lamin A known to accelerate human aging.
Dechat T, Shimi T, Adam SA, Rusinol AE, Andres DA, Spielmann HP, Sinensky MS, Goldman RD. Proc Natl Acad Sci USA. 2007 Mar 20;104(12):4955-60.
The mutant form of lamin A that causes Hutchinson-Gilford progeria is a biomarker of cellular aging in human skin.
McClintock D, Ratner D, Lokuge M, Owens DM, Gordon LB, Collins FS, Djabali K. PLoS Um. 2007 Dec 5;2(12):e1269.
A lamin A protein isoform overexpressed in Hutchinson-Gilford progeria syndrome interferes with mitosis in progeria and normal cells.
Cao K, Capell BC, Erdos MR, Djabali K, Collins FS. Proc Natl Acad Sci USA. 2007 Mar 20;104(12):4949-54.
Hutchinson-Gilford progeria mutant lamin A primarily targets human vascular cells as detected by an anti-Lamin A G608G antibody.
McClintock D, Gordon LB, Djabali K. Proc Natl Acad Sci U S A. 2006 Feb 14;103(7):2154-9.
Aggrecan expression is substantially and abnormally upregulated in Hutchinson-Gilford Progeria Syndrome dermal fibroblasts.
Lemire JM, Patis C, Gordon LB, Sandy JD, Toole BP, Weiss AS. Mech Ageing Dev. 2006 Aug;127(8):660-9.
Rescue of heterochromatin organization in Hutchinson-Gilford progeria by drug treatment.
Columbaro M, Capanni C, Mattioli E, Novelli G, Parnaik VK, Squarzoni S, Maraldi NM, Lattanzi G. Cell Mol Life Sci. 2005 Nov;62(22):2669-78.
Genomic instability in laminopathy-based premature aging.
Liu B, Wang J, Chan KM, Tjia WM, Deng W, Guan X, Huang JD, Li KM, Chau PY, Chen DJ, Pei D, Pendas AM, Cadiñanos J, López-Otín C, Tse HF, Hutchison C, Chen J, Cao Y, Cheah KS, Tryggvason K, Zhou Z. Nat Med. 2005 Jul;11(7):780-5.
Incomplete processing of mutant lamin A in Hutchinson-Gilford progeria leads to nuclear abnormalities, which are reversed by farnesyltransferase inhibition.
Glynn MW, Glover TW. Hum Mol Genet. 2005 Oct 15;14(20):2959-69.
Accumulation of mutant lamin A causes progressive changes in nuclear architecture in Hutchinson-Gilford progeria syndrome.
Goldman RD, Shumaker DK, Erdos MR, Eriksson M, Goldman AE, Gordon LB, Gruenbaum Y, Khuon S, Mendez M, Varga R, Collins FS. Proc Natl Acad Sci EUA. 2004 Jun 15;101(24):8963-8.
Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome.
Eriksson M, Brown WT, Gordon LB, Glynn MW, Singer J, Scott L, Erdos MR, Robbins CM, Moses TY, Berglund P, Dutra A, Pak E, Durkin S, Csoka AB, Boehnke M, Glover TW, Collins FS. Natureza. 2003 May 15;423(6937):293-8.
PSADFN004
Incomplete processing of mutant lamin A in Hutchinson-Gilford progeria leads to nuclear abnormalities, which are reversed by farnesyltransferase inhibition.
Glynn MW, Glover TW. Hum Mol Genet. 2005 Oct 15;14(20):2959-69.
HGADFN005
Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome.
Eriksson M, Brown WT, Gordon LB, Glynn MW, Singer J, Scott L, Erdos MR, Robbins CM, Moses TY, Berglund P, Dutra A, Pak E, Durkin S, Csoka AB, Boehnke M, Glover TW, Collins FS. Natureza. 2003 May 15;423(6937):293-8.
HGADFN008
Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome.
Eriksson M, Brown WT, Gordon LB, Glynn MW, Singer J, Scott L, Erdos MR, Robbins CM, Moses TY, Berglund P, Dutra A, Pak E, Durkin S, Csoka AB, Boehnke M, Glover TW, Collins FS. Natureza. 2003 May 15;423(6937):293-8.
HGADFN014
Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome.
Eriksson M, Brown WT, Gordon LB, Glynn MW, Singer J, Scott L, Erdos MR, Robbins CM, Moses TY, Berglund P, Dutra A, Pak E, Durkin S, Csoka AB, Boehnke M, Glover TW, Collins FS. Natureza. 2003 May 15;423(6937):293-8.
HGMDFN090
Ativação do estresse do retículo endoplasmático no envelhecimento prematuro por meio da proteína da membrana nuclear interna SUN2
Vidak S, Serebryannyy LA, Pegoraro G, Misteli T. Representante de Célula. 2023;42(5):112534. doi:10.1016/j.celrep.2023.112534
O peptídeo C-terminal exclusivo da progerina melhora o fenótipo da síndrome de progeria de Hutchinson-Gilford ao resgatar o BUBR1.
Zhang N, Hu Q, Sui T, Fu L, Zhang X, Wang Y, Zhu X, Huang B, Lu J, Li Z, Zhang Y. Nat Aging. 2023 fev;3(2):185-201. doi: 10.1038/s43587-023-00361-w. Epub 2023 fev 2. Errata em: Nat Aging. 2023 mai 2;: PMID: 37118121; PMCID: PMC10154249.
Quantificação de progerina farnesilada em células de pacientes com progeria de Hutchinson-Gilford por espectrometria de massa
Camafeita E, Jorge I, Rivera-Torres J, Andrés V, Vázquez J. Int J Mol Sci. 2022;23(19):11733. Published 2022 Oct 3. doi:10.3390/ijms231911733
Terapia com telomerase reverte senescência vascular e prolonga a vida útil em camundongos com progeria
Mojiri A, Walther BK, Jiang C, et al. [published online ahead of print, 2021 Aug 14]. Eur Coração J. 2021;ehab547. doi:10.1093/eurheartj/ehab547
Self-assembly of multi-component mitochondrial nucleoids via phase separation.
Feric M, Demarest TG, Tian J, Croteau DL, Bohr VA, Misteli T. EMBO J. 2021 Mar 15;40(6):e107165. doi: 10.15252/embj.2020107165. Epub 2021 Feb 23. PMID: 33619770; PMCID: PMC7957436.
Epigenetic Deregulation of Lamina-Associated Domains in Hutchinson-Gilford Progeria Syndrome
Köhler F, Bormann F, Raddatz G, et al. Genome Med 2020;12(1):46. Published 2020 May 25. doi:10.1186/s13073-020-00749-y
Cromatina e amarração citoesquelética determinam morfologia nuclear em células que expressam progerina
Lionetti MC, Bonfanti S, Fumagalli MR, Budrikis Z, Font-Clos F, Costantini G, Chepizhko O, Zapperi S, La Porta CAM. Biophysical Journal 2020 May 5;118(9):2319-2332.
Transient Introduction of Human Telomerase mRNA Improves Hallmarks of Progeria Cells
Li Y, Zhou G, Bruno IG, et al. Envelhecimento celular 2019;18(4):e12979. doi:10.1111/acel.12979
A Cell-Intrinsic Interferon-like Response Links Replication Stress to Cellular Aging Caused by Progerin.
Kreienkamp R, Graziano S, Coll-Bonfill N, Bedia-Diaz G, Cybulla E, Vindigni A, Dorsett D, Kubben N, Batista LFZ, Gonzalo S. Representante de Célula. 2018 Feb 20;22(8):2006-2015.
Epigenetic clock for skin and blood cells applied to Hutchinson Gilford Progeria Syndrome and ex vivo studies
Horvath S, Oshima J, Martin GM, et al. Envelhecimento (Albany NY). 2018;10(7):1758-1775. doi:10.18632/aging.101508
Nucleoplasmic lamins define growth-regulating functions of lamina-associated polypeptide 2α in progeria cells. Vidak S, Georgiou K, Fichtinger P, Naetar N, Dechat T, Foisner R. J Cell Sci. 2017 Dec 28. pii: jcs.208462. doi: 10.1242/jcs.208462. [Epub ahead of print]
O sequestro de progerina do PCNA promove o colapso da forquilha de replicação e a deslocalização do XPA em síndromes progeroides relacionadas à laminopatia
Hilton BA, Liu J, Cartwright BM, et al. FASEB J 2017;31(9):3882-3893. doi:10.1096/fj.201700014R
Vitamin D Receptor Signaling Improves Hutchinson-Gilford Progeria Syndrome Cellular Phenotypes
Kreienkamp R, Croke M, Neumann MA, et al. Oncotarget 2016;7(21):30018-30031. doi:10.18632/oncotarget.9065
Reprogramming progeria fibroblasts re-establishes a normal epigenetic landscape. Chen Z, Chang WY, Etheridge A, Strickfaden H, Jin Z, Palidwor G, Cho JH, Wang K, Kwon SY, Doré C, Raymond A, Hotta A, Ellis J, Kandel RA, Dilworth FJ, Perkins TJ, Hendzel MJ, Galas DJ, Stanford WL. .Envelhecimento celular. 2017 Jun 8. [Epub ahead of print]
Methylene blue alleviates nuclear and mitochondrial abnormalities in progeria.
Xiong ZM, Choi JY, Wang K, Zhang H, Tariq Z, Wu D, Ko E, LaDana C, Sesaki H, Cao K. Aging Cell. 2015 Dec 14. [Epub ahead of print]
Proliferation of progeria cells is enhanced by lamina-associated polypeptide 2α (LAP2α) through expression of extracellular matrix proteins.
Vidak S, Kubben N, Dechat T, Foisner R. Genes & Development. 2015 Oct 1;29(19):2022-36.
Higher-order unfolding of satellite heterochromatin is a consistent and early event in cell senescence.
Swanson EC, Manning B, Zhang H, Lawrence JB. J Biologia Celular. 2013 Dec 23;203(6):929-42
Correlated alterations in genome organization, histone methylation, and DNA-lamin A/C interactions in Hutchinson-Gilford progeria syndrome.
McCord RP, Nazario-Toole A, Zhang H, Chines PS, Zhan Y, Erdos MR, Collins FS, Dekker J, Cao K. Genome Res. 2013 Feb;23(2):260-9. Epub 2012 Nov 14.
Comparison of constitutional and replication stress-induced genome structural variation by SNP array and mate-pair sequencing.
Arlt MF, Ozdemir AC, Birkeland SR, Lyons RH Jr, Glover TW, Wilson TE. Genetics. 2011 Mar;187(3):675-83.
Hydroxyurea induces de novo copy number variants in human cells.
Arlt MF, Ozdemir AC, Birkeland SR, Wilson TE, Glover TW. Proc Natl Acad Sci USA. 2011 Oct 18;108(42):17360-5
Progerin and telomere dysfunction collaborate to trigger cellular senescence in normal human fibroblasts.
Cao K, Blair CD, Faddah DA, Kieckhaefer JE, Olive M, Erdos MR, Nabel EG, Collins FS. J Clin Invest. 2011 Jul 1;121(7):2833-44
CTP:phosphocholine cytidylyltransferase α (CCTα) and lamins alter nuclear membrane structure without affecting phosphatidylcholine synthesis.
Gehrig K, Ridgway ND. Biochim Biophys Acta. 2011 Jun;1811(6):377-85.
Effect of progerin on the accumulation of oxidized proteins in fibroblasts from Hutchinson Gilford progeria patients.
Viteri G, Chung YW, Stadtman ER. Mech Ageing Dev. 2010 Jan;131(1):2-8.
Replication stress induces genome-wide copy number changes in human cells that resemble polymorphic and pathogenic variants.
Arlt MF, Mulle JG, Schaibley VM, Ragland RL, Durkin SG, Warren ST, Glover TW. Am J Hum Genet. 2009 Mar;84(3):339-50.
A lamin A protein isoform overexpressed in Hutchinson-Gilford progeria syndrome interferes with mitosis in progeria and normal cells.
Cao K, Capell BC, Erdos MR, Djabali K, Collins FS. Proc Natl Acad Sci USA. 2007 Mar 20;104(12):4949-54.
Incomplete processing of mutant lamin A in Hutchinson-Gilford progeria leads to nuclear abnormalities, which are reversed by farnesyltransferase inhibition.
Glynn MW, Glover TW. Hum Mol Genet. 2005 Oct 15;14(20):2959-69.
HGADFN122
Aberrant migration features in primary skin fibroblasts of Huntington’s disease patients hold potential for unraveling disease progression using an image based machine learning tool
Gharaba S, Shalem A, Paz O, Muchtar N, Wolf L, Weil M. Comput Biol Med. Published online August 2, 2024. doi:10.1016/j.compbiomed.2024.108970
Cap de actina perturbada como um novo biomarcador personalizado em fibroblastos primários de pacientes com doença de Huntington
Gharaba S, Paz O, Feld L, Abashidze A, Weinrab M, Muchtar N, Baransi A, Shalem A, Sprecher U, Wolf L, Wolfenson H, Weil M. Front Cell Dev Biol. 18 de janeiro de 2023;11:1013721. doi: 10.3389/fcell.2023.1013721. PMID: 36743412; PMCID: PMC9889876.
Direct reprogramming of human smooth muscle and vascular endothelial cells reveals defects associated with aging and Hutchinson-Gilford progeria syndrome
Bersini S, Schulte R, Huang L, Tsai H, Hetzer MW. Elife. 2020 Sep 8;9:e54383. doi: 10.7554/eLife.54383. PMID: 32896271; PMCID: PMC7478891.
Epigenetic Deregulation of Lamina-Associated Domains in Hutchinson-Gilford Progeria Syndrome
Köhler F, Bormann F, Raddatz G, et al. Genome Med. 2020;12(1):46. Published 2020 May 25. doi:10.1186/s13073-020-00749-y
PML2-mediated Thread-Like Nuclear Bodies Mark Late Senescence in Hutchinson-Gilford Progeria Syndrome
Wang M, Wang L, Qian M, et al. [published online ahead of print, 2020 Apr 29]. Envelhecimento celular
Correction acknowledging PRF for cell lines is pending
Transient Introduction of Human Telomerase mRNA Improves Hallmarks of Progeria Cells
Li Y, Zhou G, Bruno IG, et al. Envelhecimento celular 2019;18(4):e12979. doi:10.1111/acel.12979
Predicting Age From the Transcriptome of Human Dermal Fibroblasts
Fleischer JG, Schulte R, Tsai HH, et al. Genome Biol 2018;19(1):221. Published 2018 Dec 20. doi:10.1186/s13059-018-1599-6
Epigenetic clock for skin and blood cells applied to Hutchinson Gilford Progeria Syndrome and ex vivo studies
Horvath S, Oshima J, Martin GM, et al. Envelhecimento (Albany NY). 2018;10(7):1758-1775. doi:10.18632/aging.101508
Metformin Alleviates Aging Cellular Phenotypes in Hutchinson-Gilford Progeria Syndrome Dermal Fibroblasts. Park SK, Shin OS. Exp Dermatol. 2017 Feb 13. [Epub ahead of print]Lamin A Is an Endogenous SIRT6 Activator and Promotes SIRT6-Mediated DNA Repair. Ghosh S, Liu B, Wang Y, Hao Q, Zhou Z. Representante de Célula. 2015 Nov 17;13(7):1396-1406. doi: 10.1016/j.celrep.2015.10.006. Epub 2015 Nov 5. PMID:26549451
Insights into the role of immunosenescence during varicella zoster virus infection (shingles) in the aging cell model.
Kim JA, Park SK, Kumar M, Lee CH, Shin OS. Oncotarget. 2015 Oct 14. [Epub ahead of print]Depleting the methyltransferase Suv39h1 improves DNA repair and extends lifespan in a progeria mouse model.
Liu B, Wang Z, Zhang L, Ghosh S, Zheng H, Zhou Z. Comunidade Nacional. 2013;4:1868.
HGADFN127
Enhancing Cellular Homeostasis: Targeted Botanical Compounds Boost Cellular Health Functions in Normal and Premature Aging Fibroblasts
Hartinger R, Singh K, Leverett J, Djabali K. Biomolecules. 2024;14(10):1310. Published 2024 Oct 16. doi:10.3390/biom14101310
Aberrant migration features in primary skin fibroblasts of Huntington’s disease patients hold potential for unraveling disease progression using an image based machine learning tool
Gharaba S, Shalem A, Paz O, Muchtar N, Wolf L, Weil M. Comput Biol Med. Published online August 2, 2024. doi:10.1016/j.compbiomed.2024.108970
Ativação do estresse do retículo endoplasmático no envelhecimento prematuro por meio da proteína da membrana nuclear interna SUN2
Vidak S, Serebryannyy LA, Pegoraro G, Misteli T. Representante de Célula. 2023;42(5):112534. doi:10.1016/j.celrep.2023.112534
A grelina atrasa o envelhecimento prematuro na síndrome de progeria de Hutchinson-Gilford
Ferreira-Marques M, Carvalho A, Franco AC, et al. Ghrelin atrasa o envelhecimento prematuro na síndrome de progeria de Hutchinson-Gilford [publicado online antes da impressão, 19 de outubro de 2023]. Envelhecimento celular. 2023;e13983. doi:10.1111/acel.13983
Cap de actina perturbada como um novo biomarcador personalizado em fibroblastos primários de pacientes com doença de Huntington
Gharaba S, Paz O, Feld L, Abashidze A, Weinrab M, Muchtar N, Baransi A, Shalem A, Sprecher U, Wolf L, Wolfenson H, Weil M. Front Cell Dev Biol. 18 de janeiro de 2023;11:1013721. doi: 10.3389/fcell.2023.1013721. PMID: 36743412; PMCID: PMC9889876.
Estabelecimento e caracterização de linhas celulares de fibroblastos de Hutchinson-Gilford Progeria imortalizadas por hTERT
Lin H, Mensch J, Haschke M, et al. Cells. 2022;11(18):2784. Published 2022 Sep 6. doi:10.3390/cells11182784
Impacto do tratamento com MnTBAP e Baricitinibe em fibroblastos de progeria de Hutchinson-Gilford
Vehns E, Arnold R, Djabali K. Pharmaceuticals (Basel). 2022;15(8):945. Published 2022 Jul 29. doi:10.3390/ph15080945
SerpinE1 conduz uma sinalização patogênica autônoma da célula na síndrome de progeria de Hutchinson-Gilford
Catarinella G, Nicoletti C, Bracaglia A, et al. Cell Death Dis. 2022;13(8):737. Published 2022 Aug 26. doi:10.1038/s41419-022-05168-y
Baricitinib, a JAK-STAT Inhibitor, Reduces the Cellular Toxicity of the Farnesyltransferase Inhibitor Lonafarnib in Progeria Cells
Arnold R, Vehns E, Randl H, Djabali K. Int J Mol Ciência. 2021;22(14):7474. Published 2021 Jul 12. doi:10.3390/ijms22147474
Impacto da expressão de progerina na adipogênese em células precursoras derivadas da pele de progeria de Hutchinson-Gilford
Najdi F, Krüger P, Djabali K. Células. 2021;10(7):1598. Published 2021 Jun 25. doi:10.3390/cells10071598
Self-assembly of multi-component mitochondrial nucleoids via phase separation.
Feric M, Demarest TG, Tian J, Croteau DL, Bohr VA, Misteli T. EMBO J. 2021 Mar 15;40(6):e107165. doi: 10.15252/embj.2020107165. Epub 2021 Feb 23. PMID: 33619770; PMCID: PMC7957436.
Nuclear Pore Complexes Cluster in Dysmorphic Nuclei of Normal and Progeria Cells during Replicative Senescence.
Röhrl JM, Arnold R, Djabali K. Cells. 2021 Jan 14;10(1):153. doi: 10.3390/cells10010153. PMID: 33466669; PMCID: PMC7828780.
Direct reprogramming of human smooth muscle and vascular endothelial cells reveals defects associated with aging and Hutchinson-Gilford progeria syndrome
Bersini S, Schulte R, Huang L, Tsai H, Hetzer MW. Elife. 2020 Sep 8;9:e54383. doi: 10.7554/eLife.54383. PMID: 32896271; PMCID: PMC7478891.
Inhibition of JAK-STAT Signaling With Baricitinib Reduces Inflammation and Improves Cellular Homeostasis in Progeria Cells
Liu C, Arnold R, Henriques G, Djabali K. Células 2019;8(10):1276. Published 2019 Oct 18. doi:10.3390/cells8101276
Transient Introduction of Human Telomerase mRNA Improves Hallmarks of Progeria Cells
Li Y, Zhou G, Bruno IG, et al. Envelhecimento celular 2019;18(4):e12979. doi:10.1111/acel.12979
Predicting Age From the Transcriptome of Human Dermal Fibroblasts
Fleischer JG, Schulte R, Tsai HH, et al. Genome Biol 2018;19(1):221. Published 2018 Dec 20. doi:10.1186/s13059-018-1599-6
Remoção autofágica de peptídeos de lamina carboxi-terminal farnesilados
Lu X, Djabali K. Células 2018;7(4):33. Published 2018 Apr 23. doi:10.3390/cells7040033
Epigenetic clock for skin and blood cells applied to Hutchinson Gilford Progeria Syndrome and ex vivo studies
Horvath S, Oshima J, Martin GM, et al. Envelhecimento (Al
Intermittent treatment with farnesyltransferase inhibitor and sulforaphane improves cellular homeostasis in Hutchinson-Gilford progeria fibroblasts. Gabriel D, Shafry DD, Gordon LB, Djabali K. Oncotarget. 2017 Jul 18;8(39):64809-64826. doi: 10.18632/oncotarget.19363. eCollection 2017 Sep 12.
Temsirolimus Partially Rescues the Hutchinson-Gilford Progeria Cellular Phenotype.
Gabriel D, Gordon LB, Djabali K. PLoS Um 2016;11(12):e0168988. Published 2016 Dec 29. doi:10.1371/journal.pone.0168988
Progerin Impairs Chromosome Maintenance by Depleting CENP-F From Metaphase Kinetochores in Hutchinson-Gilford Progeria Fibroblasts
Eisch V, Lu X, Gabriel D, Djabali K. Oncotarget 2016;7(17):24700-24718. doi:10.18632/oncotarget.8267
Metformin Alleviates Aging Cellular Phenotypes in Hutchinson-Gilford Progeria Syndrome Dermal Fibroblasts. Park SK, Shin OS. Exp Dermatol. 2017 Feb 13. [Epub ahead of print]
Insights into the role of immunosenescence during varicella zoster virus infection (shingles) in the aging cell model.
Kim JA, Park SK, Kumar M, Lee CH, Shin OS. Oncotarget. 2015 Oct 14. [Epub ahead of print]
Sulforaphane enhances progerin clearance in Hutchinson-Gilford progeria fibroblasts.
Gabriel D, Roedl D, Gordon LB, Djabali K. Envelhecimento celular. 2014 Dec 16: 1-14.
A proteomic study of Hutchinson-Gilford progeria syndrome: Application of 2D-chromotography in a premature aging disease.
Wang L, Yang W, Ju W, Wang P, Zhao X, Jenkins EC, Brown WT, Zhong N. Biochem Biophys Res Commun. 2012 Jan 27;417(4):1119-26. Epub 2011 Dec 24.
Age-dependent loss of MMP-3 in Hutchinson-Gilford progeria syndrome.
Harten IA, Zahr RS, Lemire JM, Machan JT, Moses MA, Doiron RJ, Curatolo AS, Rothman FG, Wight TN, Toole BP, Gordon LB. J Gerontol A Biol Sci Med Sci. 2011 Nov;66(11):1201-7.
CTP:phosphocholine cytidylyltransferase α (CCTα) and lamins alter nuclear membrane structure without affecting phosphatidylcholine synthesis.
Gehrig K, Ridgway ND. Biochim Biophys Acta. 2011 Jun;1811(6):377-85.
Defective lamin A-Rb signaling in Hutchinson-Gilford Progeria Syndrome and reversal by farnesyltransferase inhibition.
Marji J, O’Donoghue SI, McClintock D, Satagopam VP, Schneider R, Ratner D, Worman HJ, Gordon LB, Djabali K. PLoS Um. 2010 Jun 15;5(6):e11132.
Increased mechanosensitivity and nuclear stiffness in Hutchinson-Gilford progeria cells: effects of farnesyltransferase inhibitors.
Verstraeten VL, Ji JY, Cummings KS, Lee RT, Lammerding J. Aging Cell. 2008 Jun;7(3):383-93.
Alterations in mitosis and cell cycle progression caused by a mutant lamin A known to accelerate human aging.
Dechat T, Shimi T, Adam SA, Rusinol AE, Andres DA, Spielmann HP, Sinensky MS, Goldman RD. Proc Natl Acad Sci USA. 2007 Mar 20;104(12):4955-60.
The mutant form of lamin A that causes Hutchinson-Gilford progeria is a biomarker of cellular aging in human skin.
McClintock D, Ratner D, Lokuge M, Owens DM, Gordon LB, Collins FS, Djabali K. PLoS Um. 2007 Dec 5;2(12):e1269.
Aggrecan expression is substantially and abnormally upregulated in Hutchinson-Gilford Progeria Syndrome dermal fibroblasts.
Lemire JM, Patis C, Gordon LB, Sandy JD, Toole BP, Weiss AS. Mech Ageing Dev. 2006 Aug;127(8):660-9
Hutchinson-Gilford progeria mutant lamin A primarily targets human vascular cells as detected by an anti-Lamin A G608G antibody.
McClintock D, Gordon LB, Djabali K. Proc Natl Acad Sci U S A. 2006 Feb 14;103(7):2154-9.
Rescue of heterochromatin organization in Hutchinson-Gilford progeria by drug treatment.
Columbaro M, Capanni C, Mattioli E, Novelli G, Parnaik VK, Squarzoni S, Maraldi NM, Lattanzi G. Cell Mol Life Sci. 2005 Nov;62(22):2669-78.
Genomic instability in laminopathy-based premature aging.
Liu B, Wang J, Chan KM, Tjia WM, Deng W, Guan X, Huang JD, Li KM, Chau PY, Chen DJ, Pei D, Pendas AM, Cadiñanos J, López-Otín C, Tse HF, Hutchison C, Chen J, Cao Y, Cheah KS, Tryggvason K, Zhou Z. Nat Med. 2005 Jul;11(7):780-5.
Novel progerin-interactive partner proteins hnRNP E1, EGF, Mel 18, and UBC9 interact with lamin A/C.
Zhong N, Radu G, Ju W, Brown WT. Biochem Biophys Res Commun. 2005 Dec 16;338(2):855-61.
HGADFN136
Incomplete processing of mutant lamin A in Hutchinson-Gilford progeria leads to nuclear abnormalities, which are reversed by farnesyltransferase inhibition.
Glynn MW, Glover TW. Hum Mol Genet. 2005 Oct 15;14(20):2959-69.
HGADFN143
Terapia baseada em isoprenilcisteína carboxilmetiltransferase para síndrome de progeria de Hutchinson-Gilford
Marcos-Ramiro B, Gil-Ordóñez A, Marín-Ramos NI, et al. ACS Cent Sci. 2021;7(8):1300-1310. doi:10.1021/acscentsci.0c01698
Direct reprogramming of human smooth muscle and vascular endothelial cells reveals defects associated with aging and Hutchinson-Gilford progeria syndrome
Bersini S, Schulte R, Huang L, Tsai H, Hetzer MW. Elife. 2020 Sep 8;9:e54383. doi: 10.7554/eLife.54383. PMID: 32896271; PMCID: PMC7478891.
Epigenetic Deregulation of Lamina-Associated Domains in Hutchinson-Gilford Progeria Syndrome
Köhler F, Bormann F, Raddatz G, et al. Genome Med. 2020;12(1):46. Published 2020 May 25. doi:10.1186/s13073-020-00749-y
PML2-mediated Thread-Like Nuclear Bodies Mark Late Senescence in Hutchinson-Gilford Progeria Syndrome
Wang M, Wang L, Qian M, et al. [published online ahead of print, 2020 Apr 29]. Envelhecimento celular.
Correction acknowledging PRF for cell lines is pending
Transient Introduction of Human Telomerase mRNA Improves Hallmarks of Progeria Cells
Li Y, Zhou G, Bruno IG, et al. Envelhecimento celular 2019;18(4):e12979. doi:10.1111/acel.12979
Predicting Age From the Transcriptome of Human Dermal Fibroblasts
Fleischer JG, Schulte R, Tsai HH, et al. Genome Biol 2018;19(1):221. Published 2018 Dec 20. doi:10.1186/s13059-018-1599-6
Epigenetic clock for skin and blood cells applied to Hutchinson Gilford Progeria Syndrome and ex vivo studies
Horvath S, Oshima J, Martin GM, et al. Envelhecimento (Albany NY). 2018;10(7):1758-1775. doi:10.18632/aging.101508
Depleting the methyltransferase Suv39h1 improves DNA repair and extends lifespan in a progeria mouse model.
Liu B, Wang Z, Zhang L, Ghosh S, Zheng H, Zhou Z. Comunidade Nacional. 2013;4:1868.
CTP:phosphocholine cytidylyltransferase α (CCTα) and lamins alter nuclear membrane structure without affecting phosphatidylcholine synthesis.
Gehrig K, Ridgway ND. Biochim Biophys Acta. 2011 Jun;1811(6):377-85.
Increased mechanosensitivity and nuclear stiffness in Hutchinson-Gilford progeria cells: effects of farnesyltransferase inhibitors.
Verstraeten VL, Ji JY, Cummings KS, Lee RT, Lammerding J. Aging Cell. 2008 Jun;7(3):383-93.
The mutant form of lamin A that causes Hutchinson-Gilford progeria is a biomarker of cellular aging in human skin.
McClintock D, Ratner D, Lokuge M, Owens DM, Gordon LB, Collins FS, Djabali K. PLoS Um. 2007 Dec 5;2(12):e1269.
Hutchinson-Gilford progeria mutant lamin A primarily targets human vascular cells as detected by an anti-Lamin A G608G antibody.
McClintock D, Gordon LB, Djabali K. Proc Natl Acad Sci U S A. 2006 Feb 14;103(7):2154-9.
HGADFN155
Angiopoietin-2 reverses endothelial cell dysfunction in progeria vasculature
Vakili S, Izydore EK, Losert L, et al. Envelhecimento celular. Published online October 18, 2024. doi:10.1111/acel.14375
O inibidor NLRP3 Dapansutrile melhora a ação terapêutica do lonafarnib em camundongos progeróides
Muela-Zarzuela I, Suarez-Rivero JM, Boy-Ruiz D, et al. Envelhecimento celular. Publicado on-line em 27 de agosto de 2024. doi:10.1111/acel.14272
A inibição do inflamossomo NLRP3 melhora a expectativa de vida em modelo animal murino de Progeria de Hutchinson-Gilford
González-Dominguez A, Montañez R, Castejón-Vega B, et al. [published online ahead of print, 2021 Aug 27]. EMBO Mol Med. 2021;e14012. doi:10.15252/emmm.202114012
Epigenetic Deregulation of Lamina-Associated Domains in Hutchinson-Gilford Progeria Syndrome
Köhler F, Bormann F, Raddatz G, et al. Genome Med. 2020;12(1):46. Published 2020 May 25. doi:10.1186/s13073-020-00749-y
PML2-mediated Thread-Like Nuclear Bodies Mark Late Senescence in Hutchinson-Gilford Progeria Syndrome
Wang M, Wang L, Qian M, et al. [published online ahead of print, 2020 Apr 29]. Envelhecimento celular.
Correction acknowledging PRF for cell lines is pending
Transient Introduction of Human Telomerase mRNA Improves Hallmarks of Progeria Cells
Li Y, Zhou G, Bruno IG, et al. Envelhecimento celular 2019;18(4):e12979. doi:10.1111/acel.12979
Remoção autofágica de peptídeos de lamina carboxi-terminal farnesilados
Lu X, Djabali K. Células 2018;7(4):33. Published 2018 Apr 23. doi:10.3390/cells7040033
Epigenetic clock for skin and blood cells applied to Hutchinson Gilford Progeria Syndrome and ex vivo studies
Horvath S, Oshima J, Martin GM, et al. Envelhecimento (Albany NY). 2018;10(7):1758-1775. doi:10.18632/aging.101508
Nucleoplasmic lamins define growth-regulating functions of lamina-associated polypeptide 2α in progeria cells. Vidak S, Georgiou K, Fichtinger P, Naetar N, Dechat T, Foisner R. J Cell Sci. 2017 Dec 28. pii: jcs.208462. doi: 10.1242/jcs.208462. [Epub ahead of print]
Intermittent treatment with farnesyltransferase inhibitor and sulforaphane improves cellular homeostasis in Hutchinson-Gilford progeria fibroblasts. Gabriel D, Shafry DD, Gordon LB, Djabali K. Oncotarget. 2017 Jul 18;8(39):64809-64826. doi: 10.18632/oncotarget.19363. eCollection 2017 Sep 12.
Temsirolimus Partially Rescues the Hutchinson-Gilford Progeria Cellular Phenotype.
Gabriel D, Gordon LB, Djabali K. PLoS Um 2016;11(12):e0168988. Published 2016 Dec 29. doi:10.1371/journal.pone.0168988
Progerin Impairs Chromosome Maintenance by Depleting CENP-F From Metaphase Kinetochores in Hutchinson-Gilford Progeria Fibroblasts
Eisch V, Lu X, Gabriel D, Djabali K. Oncotarget 2016;7(17):24700-24718. doi:10.18632/oncotarget.8267
Lamin A Is an Endogenous SIRT6 Activator and Promotes SIRT6-Mediated DNA Repair. Ghosh S, Liu B, Wang Y, Hao Q, Zhou Z. Representante de Célula. 2015 Nov 17;13(7):1396-1406. doi: 10.1016/j.celrep.2015.10.006. Epub 2015 Nov 5. PMID:26549451
Lamin A Is an Endogenous SIRT6 Activator and Promotes SIRT6-Mediated DNA Repair.
Ghosh S, Liu B, Wang Y, Hao Q, Zhou Z. Representante de Célula. 2015 Nov 4. [Epub ahead of print]Proliferation of progeria cells is enhanced by lamina-associated polypeptide 2α (LAP2α) through expression of extracellular matrix proteins.
Vidak S, Kubben N, Dechat T, Foisner R. Genes & Development. 2015 Oct 1;29(19):2022-36.
Sulforaphane enhances progerin clearance in Hutchinson-Gilford progeria fibroblasts.
Gabriel D, Roedl D, Gordon LB, Djabali K. Envelhecimento celular. 2014 Dec 16: 1-14.
Higher-order unfolding of satellite heterochromatin is a consistent and early event in cell senescence.
Swanson EC, Manning B, Zhang H, Lawrence JB. J Biologia Celular. 2013 Dec 23;203(6):929-42.
Correlated alterations in genome organization, histone methylation, and DNA-lamin A/C interactions in Hutchinson-Gilford progeria syndrome.
McCord RP, Nazario-Toole A, Zhang H, Chines PS, Zhan Y, Erdos MR, Collins FS, Dekker J, Cao K. Genome Res. 2013 Feb;23(2):260-9. Epub 2012 Nov 14.
An inhibitory role of progerin in the gene induction network of adipocyte differentiation from iPS cells.
Xiong ZM, LaDana C, Wu D, Cao K. Envelhecimento (Albany NY). 2013 Apr;5(4):288-303.
Depleting the methyltransferase Suv39h1 improves DNA repair and extends lifespan in a progeria mouse model.
Liu B, Wang Z, Zhang L, Ghosh S, Zheng H, Zhou Z. Comunidade Nacional. 2013;4:1868.
Automated image analysis of nuclear shape: what can we learn from a prematurely aged cell?
Driscoll MK, Albanese JL, Xiong ZM, Mailman M, Losert W, Cao K. Envelhecimento (Albany NY). 2012 Feb;4(2):119-32.
Rapamycin reverses cellular phenotypes and enhances mutant protein clearance in Hutchinson-Gilford progeria syndrome cells.
Cao K, Graziotto JJ, Blair CD, Mazzulli JR, Erdos MR, Krainc D, Collins FS. Sci Transl Med. 2011 Jun 29;3(89):89ra58.
Defective lamin A-Rb signaling in Hutchinson-Gilford Progeria Syndrome and reversal by farnesyltransferase inhibition.
Marji J, O’Donoghue SI, McClintock D, Satagopam VP, Schneider R, Ratner D, Worman HJ, Gordon LB, Djabali K. PLoS Um. 2010 Jun 15;5(6):e11132.
HGADFN164
Enhancing Cellular Homeostasis: Targeted Botanical Compounds Boost Cellular Health Functions in Normal and Premature Aging Fibroblasts
Hartinger R, Singh K, Leverett J, Djabali K. Biomolecules. 2024;14(10):1310. Published 2024 Oct 16. doi:10.3390/biom14101310
Impacto do tratamento combinado com baricitinibe e FTI na adipogênese na síndrome de Hutchinson-Gilford Progeria e outras laminopatias lipodistróficas
Hartinger R, Lederer EM, Schena E, Lattanzi G, Djabali K. Cells. 2023;12(10):1350. Published 2023 May 9. doi:10.3390/cells12101350
Estabelecimento e caracterização de linhas celulares de fibroblastos de Hutchinson-Gilford Progeria imortalizadas por hTERT
Lin H, Mensch J, Haschke M, et al. Cells. 2022;11(18):2784. Published 2022 Sep 6. doi:10.3390/cells11182784
SAMMY-seq reveals early alteration of heterochromatin and deregulation of bivalent genes in Hutchinson-Gilford Progeria SyndromeNat
Sebestyén E, Marullo F, Lucini F, Petrini C, Bianchi A, Valsoni S, Olivieri I, Antonelli L, Gregoretti F, Oliva G, Ferrari F, Lanzuolo C. Commun. 2020 Dec 8;11(1):6274. doi: 10.1038/s41467-020-20048-9. PMID: 33293552; PMCID: PMC7722762.
Direct reprogramming of human smooth muscle and vascular endothelial cells reveals defects associated with aging and Hutchinson-Gilford progeria syndrome
Bersini S, Schulte R, Huang L, Tsai H, Hetzer MW. Elife. 2020 Sep 8;9:e54383. doi: 10.7554/eLife.54383. PMID: 32896271; PMCID: PMC7478891.
Epigenetic Deregulation of Lamina-Associated Domains in Hutchinson-Gilford Progeria Syndrome
Köhler F, Bormann F, Raddatz G, et al. Genome Med. 2020;12(1):46. Published 2020 May 25. doi:10.1186/s13073-020-00749-y
Transient Introduction of Human Telomerase mRNA Improves Hallmarks of Progeria Cells
Li Y, Zhou G, Bruno IG, et al. Envelhecimento celular 2019;18(4):e12979. doi:10.1111/acel.12979
Inhibition of JAK-STAT Signaling With Baricitinib Reduces Inflammation and Improves Cellular Homeostasis in Progeria Cells
Liu C, Arnold R, Henriques G, Djabali K. Células 2019;8(10):1276. Published 2019 Oct 18. doi:10.3390/cells8101276
Analysis of Somatic Mutations Identifies Signs of Selection During in Vitro Aging of Primary Dermal Fibroblasts
Narisu N, Rothwell R, Vrtačnik P, et al. Envelhecimento celular. 2019;18(6):e13010. doi:10.1111/acel.13010
Predicting Age From the Transcriptome of Human Dermal Fibroblasts
Fleischer JG, Schulte R, Tsai HH, et al. Genome Biol 2018;19(1):221. Published 2018 Dec 20. doi:10.1186/s13059-018-1599-6
A diminuição da sinalização canônica de β-catenina durante a diferenciação dos osteoblastos contribui para a osteopenia na progéria
Choi JY, Lai JK, Xiong ZM, et al. J Bone Miner Res 2018;33(11):2059-2070. doi:10.1002/jbmr.3549
Remoção autofágica de peptídeos de lamina carboxi-terminal farnesilados
Lu X, Djabali K. Células. 2018;7(4):33. Published 2018 Apr 23. doi:10.3390/cells7040033
Epigenetic clock for skin and blood cells applied to Hutchinson Gilford Progeria Syndrome and ex vivo studies
Horvath S, Oshima J, Martin GM, et al. Envelhecimento (Albany NY). 2018;10(7):1758-1775. doi:10.18632/aging.101508
Intermittent treatment with farnesyltransferase inhibitor and sulforaphane improves cellular homeostasis in Hutchinson-Gilford progeria fibroblasts.Gabriel D, Shafry DD, Gordon LB, Djabali K. Oncotarget. 2017 Jul 18;8(39):64809-64826. doi: 10.18632/oncotarget.19363. eCollection 2017 Sep 12.
Temsirolimus Partially Rescues the Hutchinson-Gilford Progeria Cellular Phenotype.
Gabriel D, Gordon LB, Djabali K. PLoS Um 2016;11(12):e0168988. Published 2016 Dec 29. doi:10.1371/journal.pone.0168988
Lamin A Is an Endogenous SIRT6 Activator and Promotes SIRT6-Mediated DNA Repair. Ghosh S, Liu B, Wang Y, Hao Q, Zhou Z. Representante de Célula. 2015 Nov 17;13(7):1396-1406. doi: 10.1016/j.celrep.2015.10.006. Epub 2015 Nov 5. PMID: 26549451
Sulforaphane enhances progerin clearance in Hutchinson-Gilford progeria fibroblasts.
Gabriel D, Roedl D, Gordon LB, Djabali K. Envelhecimento celular. 2014 Dec 16: 1-14.
Mechanisms controlling the smooth muscle cell death in progeria via down-regulation of poly(ADP-ribose) polymerase 1.
Zhang H, Xiong ZM, Cao K. Proc Natl Acad Sci U S A. 2014 Jun 3;111(22):E2261-70. Epub 2014 May 19.
Correlated alterations in genome organization, histone methylation, and DNA-lamin A/C interactions in Hutchinson-Gilford progeria syndrome.
McCord RP, Nazario-Toole A, Zhang H, Chines PS, Zhan Y, Erdos MR, Collins FS, Dekker J, Cao K. Genome Res. 2013 Feb;23(2):260-9. Epub 2012 Nov 14.
An inhibitory role of progerin in the gene induction network of adipocyte differentiation from iPS cells.
Xiong ZM, LaDana C, Wu D, Cao K. Envelhecimento (Albany NY). 2013 Apr;5(4):288-303.
Depleting the methyltransferase Suv39h1 improves DNA repair and extends lifespan in a progeria mouse model.
Liu B, Wang Z, Zhang L, Ghosh S, Zheng H, Zhou Z. Comunidade Nacional. 2013;4:1868.
Naïve adult stem cells from patients with Hutchinson-Gilford progeria syndrome express low levels of progerin in vivo.
Wenzel V, Roedl D, Gabriel D, Gordon LB, Herlyn M, Schneider R, Ring J, Djabali K.
Biol Open. 2012 Jun 15;1(6):516-26. Epub 2012 Apr 16.
Defective lamin A-Rb signaling in Hutchinson-Gilford Progeria Syndrome and reversal by farnesyltransferase inhibition.Marji J, O’Donoghue SI, McClintock D, Satagopam VP, Schneider R, Ratner D, Worman HJ, Gordon LB, Djabali K. PLoS Um. 2010 Jun 15;5(6):e11132.
HGADFN167
Angiopoietin-2 reverses endothelial cell dysfunction in progeria vasculature
Vakili S, Izydore EK, Losert L, et al. Envelhecimento celular. Published online October 18, 2024. doi:10.1111/acel.14375
A expressão do mRNA da progerina em pacientes não-HGPS está correlacionada com mudanças generalizadas nas isoformas de transcrição
Yu R, Xue H, Lin W, Collins FS, Mount SM, Cao K. Bioinformação do genoma NAR. 2024;6(3):lqae115. Publicado em 29 de agosto de 2024. doi:10.1093/nargab/lqae115
Coaching ribosome biogenesis from the nuclear periphery
Zhuang Y, Guo X, Razorenova OV, Miles CE, Zhao W, Shi X. bioRxiv [Preprint]. 2024 Jun 22:2024.06.21.597078. doi: 10.1101/2024.06.21.597078. PMID: 38948754; PMCID: PMC11212990.
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Lonafarnib and everolimus reduce pathology in iPSC-derived tissue engineered blood vessel model of Hutchinson-Gilford Progeria Syndrome.
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Mecanismos de incompetência angiogênica na progeria de Hutchinson-Gilford via regulação negativa da NOS endotelial.
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SAMMY-seq reveals early alteration of heterochromatin and deregulation of bivalent genes in Hutchinson-Gilford Progeria SyndromeNat
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Epigenetic Deregulation of Lamina-Associated Domains in Hutchinson-Gilford Progeria Syndrome
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Células endoteliais derivadas de iPSC afetam a função vascular em um modelo de vaso sanguíneo projetado por engenharia tecidual da síndrome de Hutchinson-Gilford Progeria
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NANOG reverses the Myogenic Differentiation Potential of Senescent Stem Cells by Restoring ACTIN Filamentous Organization and SRF-Dependent Gene Expression. Mistriotis P, Bajpai VK, Wang X, Rong N, Shahini A, Asmani M, Liang MS, Wang J, Lei P, Liu S, Zhao R, Andreadis ST. Células-tronco. 2016 Jun 28. doi: 10.1002/stem.2452. [Epub ahead of print]
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A expressão do mRNA da progerina em pacientes não-HGPS está correlacionada com mudanças generalizadas nas isoformas de transcrição
Yu R, Xue H, Lin W, Collins FS, Mount SM, Cao K. Bioinformação do genoma NAR. 2024;6(3):lqae115. Publicado em 29 de agosto de 2024. doi:10.1093/nargab/lqae115
Ativação do estresse do retículo endoplasmático no envelhecimento prematuro por meio da proteína da membrana nuclear interna SUN2
Vidak S, Serebryannyy LA, Pegoraro G, Misteli T. Representante de Célula. 2023;42(5):112534. doi:10.1016/j.celrep.2023.112534
Modelo de cardiomiócito derivado de paciente com progeria de Hutchinson-Gilford portador da variante do gene LMNA c.1824 C > T
Perales S, Sigamani V, Rajasingh S, Czirok A, Rajasingh J. [publicado online antes da impressão, 12 de agosto de 2023]. Res de Tecidos Celulares. 2023;10.1007/s00441-023-03813-2. doi:10.1007/s00441-023-03813-2
O peptídeo C-terminal exclusivo da progerina melhora o fenótipo da síndrome de progeria de Hutchinson-Gilford ao resgatar o BUBR1.
Zhang N, Hu Q, Sui T, Fu L, Zhang X, Wang Y, Zhu X, Huang B, Lu J, Li Z, Zhang Y. Nat Aging. 2023 fev;3(2):185-201. doi: 10.1038/s43587-023-00361-w. Epub 2023 fev 2. Errata em: Nat Aging. 2023 mai 2;: PMID: 37118121; PMCID: PMC10154249.
Lonafarnib and everolimus reduce pathology in iPSC-derived tissue engineered blood vessel model of Hutchinson-Gilford Progeria Syndrome.
Abutaleb NO, Atchison L, Choi L, Bedapudi A, Shores K, Gete Y, Cao K, Truskey GA. Sci Rep. 2023 Mar 28;13(1):5032. doi: 10.1038/s41598-023-32035-3. PMID: 36977745; PMCID: PMC10050176.
O perfil transcricional dos fibroblastos da síndrome de Hutchinson-Gilford Progeria revela déficits no comprometimento das células-tronco mesenquimais com a diferenciação relacionada a eventos precoces na ossificação endocondral
San Martin R, Das P, Sanders JT, Hill AM, McCord RP. [publicado online antes da impressão, 29 de dezembro de 2022]. Elife. 2022;11:e81290. doi:10.7554/eLife.81290
Quantificação de progerina farnesilada em células de pacientes com progeria de Hutchinson-Gilford por espectrometria de massa
Camafeita E, Jorge I, Rivera-Torres J, Andrés V, Vázquez J. Int J Mol Sci. 2022;23(19):11733. Published 2022 Oct 3. doi:10.3390/ijms231911733
A ativação prejudicada de LEF1 acelera a diferenciação de queratinócitos derivados de iPSC na síndrome de Hutchinson-Gilford Progeria
Mao X, Xiong ZM, Xue H, et al. Int J Mol Sci. 2022;23(10):5499. Publicado em 14 de maio de 2022. doi:10.3390/ijms23105499
Terapia baseada em isoprenilcisteína carboxilmetiltransferase para síndrome de progeria de Hutchinson-Gilford
Marcos-Ramiro B, Gil-Ordóñez A, Marín-Ramos NI, et al. ACS Cent Sci. 2021;7(8):1300-1310. doi:10.1021/acscentsci.0c01698
Terapia com telomerase reverte senescência vascular e prolonga a vida útil em camundongos com progeria
Mojiri A, Walther BK, Jiang C, et al. [published online ahead of print, 2021 Aug 14]. Eur Coração J. 2021;ehab547. doi:10.1093/eurheartj/ehab547
Mecanismos de incompetência angiogênica na progeria de Hutchinson-Gilford via regulação negativa da NOS endotelial.
Gete YG, Koblan LW, Mao X, Trappio M, Mahadik B, Fisher JP, Liu DR, Cao K. Envelhecimento celular. 4 de junho de 2021:e13388. doi: 10.1111/acel.13388. Epub antes da impressão. PMID: 34086398.
Uma abordagem terapêutica antisense direcionada para a síndrome de progeria de Hutchinson-Gilford
Erdos MR, Cabral WA, Tavarez UL, Cao K, Gvozdenovic-Jeremic J, Narisu N, Zerfas PM, Crumley S, Boku Y, Hanson G, Mourich DV, Kole R, Eckhaus MA, Gordon LB, Collins FS. Nat Med. 2021 Mar;27(3):536-545. doi: 10.1038/s41591-021-01274-0. Epub 2021 Mar 11. PMID: 33707773.
In vivo base editing rescues Hutchinson-Gilford progeria syndrome in mice.
Koblan LW, Erdos MR, Wilson C, Cabral WA, Levy JM, Xiong ZM, Tavarez UL, Davison LM, Gete YG, Mao X, Newby GA, Doherty SP, Narisu N, Sheng Q, Krilow C, Lin CY, Gordon LB, Cao K, Collins FS, Brown JD, Liu DR. Nature. 2021 Jan;589(7843):608-614. doi: 10.1038/s41586-020-03086-7. Epub 2021 Jan 6. PMID: 33408413; PMCID: PMC7872200.
Self-assembly of multi-component mitochondrial nucleoids via phase separation.
Feric M, Demarest TG, Tian J, Croteau DL, Bohr VA, Misteli T. EMBO J. 2021 Mar 15;40(6):e107165. doi: 10.15252/embj.2020107165. Epub 2021 Feb 23. PMID: 33619770; PMCID: PMC7957436.
Epigenetic Deregulation of Lamina-Associated Domains in Hutchinson-Gilford Progeria Syndrome
Köhler F, Bormann F, Raddatz G, et al. Genome Med. 2020;12(1):46. Published 2020 May 25. doi:10.1186/s13073-020-00749-y
Peroxisomal Abnormalities and Catalase Deficiency in Hutchinson-Gilford Progeria Syndrome
Mao X, Bharti P, Thaivalappil A, Cao K. Envelhecimento (Albany NY) 2020;12(6):5195‐5208. doi:10.18632/aging.102941
Células endoteliais derivadas de iPSC afetam a função vascular em um modelo de vaso sanguíneo projetado por engenharia tecidual da síndrome de Hutchinson-Gilford ProgeriaAtchison L, Abutaleb NO, Snyder-Mounts E, et al. Stem Cell Reports 2020;14(2):325‐337. doi:10.1016/j.stemcr.2020.01.005
Restoring Extracellular Matrix Synthesis in Senescent Stem Cells
Rong N, Mistriotis P, Wang X, et al. FASEB J. 2019;33(10):10954‐10965. doi:10.1096/fj.201900377R
Imbalanced Nucleocytoskeletal Connections Create Common Polarity Defects in Progeria and Physiological Aging
Chang W, Wang Y, Luxton GWG, Östlund C, Worman HJ, Gundersen GG. Proc Natl Acad Sci EUA 2019;116(9):3578‐3583. doi:10.1073/pnas.1809683116
A diminuição da sinalização canônica de β-catenina durante a diferenciação dos osteoblastos contribui para a osteopenia na progéria
Choi JY, Lai JK, Xiong ZM, et al. J Bone Miner Res 2018;33(11):2059-2070. doi:10.1002/jbmr.3549
Everolimus Rescues Multiple Cellular Defects in Laminopathy-Patient Fibroblasts
DuBose AJ, Lichtenstein ST, Petrash NM, Erdos MR, Gordon LB, Collins FS [published correction appears in Proc Natl Acad Sci U S A 2018 Apr 16;:]. Proc Natl Acad Sci EUA. 2018;115(16):4206‐4211. doi:10.1073/pnas.1802811115
Smurf2 regulates stability and the autophagic-lysosomal turnover of lamin A and its disease-associated form progerin.
Borroni AP, Emanuelli A, Shah PA, Ilić N, Apel-Sarid L, Paolini B, Manikoth Ayyathan D, Koganti P, Levy-Cohen G, Blank M. Envelhecimento celular. 2018 Feb 5. doi: 10.1111/acel.12732. [Epub ahead of print].
Nucleoplasmic lamins define growth-regulating functions of lamina-associated polypeptide 2α in progeria cells. Vidak S, Georgiou K, Fichtinger P, Naetar N, Dechat T, Foisner R. J Cell Sci. 2017 Dec 28. pii: jcs.208462. doi: 10.1242/jcs.208462. [Epub ahead of print]Nucleolar expansion and elevated protein translation in premature aging. Buchwalter A, Hetzer MW. Nat Commun. 2017 Aug 30;8(1):328. doi: 10.1038/s41467-017-00322-z.
Reprogramming progeria fibroblasts re-establishes a normal epigenetic landscape. Chen Z, Chang WY, Etheridge A, Strickfaden H, Jin Z, Palidwor G, Cho JH, Wang K, Kwon SY, Doré C, Raymond A, Hotta A, Ellis J, Kandel RA, Dilworth FJ, Perkins TJ, Hendzel MJ, Galas DJ, Stanford WL. .Envelhecimento celular. 2017 Jun 8. [Epub ahead of print]
Loss of H3K9me3 Correlates with ATM Activation and Histone H2AX Phosphorylation Deficiencies in Hutchinson-Gilford Progeria Syndrome. Zhang H, Sun L, Wang K, Wu D, Trappio M, Witting C, Cao K. PLoS Um. 2016 Dec 1;11(12):e0167454. doi: 10.1371/journal.pone.0167454.
NANOG reverses the Myogenic Differentiation Potential of Senescent Stem Cells by Restoring ACTIN Filamentous Organization and SRF-Dependent Gene Expression.Mistriotis P, Bajpai VK, Wang X, Rong N, Shahini A, Asmani M, Liang MS, Wang J, Lei P, Liu S, Zhao R, Andreadis ST. Células-tronco. 2016 Jun 28. doi: 10.1002/stem.2452. [Epub ahead of print]
Methylene blue alleviates nuclear and mitochondrial abnormalities in progeria.
Xiong ZM, Choi JY, Wang K, Zhang H, Tariq Z, Wu D, Ko E, LaDana C, Sesaki H, Cao K. Aging Cell. 2015 Dec 14. [Epub ahead of print]
Proliferation of progeria cells is enhanced by lamina-associated polypeptide 2α (LAP2α) through expression of extracellular matrix proteins.
Vidak S, Kubben N, Dechat T, Foisner R. Genes & Development. 2015 Oct 1;29(19):2022-36.
Nuclear stiffening and chromatin softening with progerin expression leads to an attenuated nuclear response to force.
Booth EA, Spagnol ST, Alcoser TA, Dahl KN. Soft Matter. 2015 Aug 28;11(32):6412-8. Epub 2015 Jul 14.
Phenotype-Dependent Coexpression Gene Clusters: Application to Normal and Premature Ageing.
Wang K, Das A, Xiong Z, Cao K, Hannenhalli S. IEEE/ACM Trans Comput Biol Bioinform 2015 Jan-Feb;12(1):30-9.
Mechanisms controlling the smooth muscle cell death in progeria via down-regulation of poly(ADP-ribose) polymerase 1.
Zhang H, Xiong ZM, Cao K. Proc Natl Acad Sci U S A. 2014 Jun 3;111(22):E2261-70. Epub 2014 May 19.
Correlated alterations in genome organization, histone methylation, and DNA-lamin A/C interactions in Hutchinson-Gilford progeria syndrome.
McCord RP, Nazario-Toole A, Zhang H, Chines PS, Zhan Y, Erdos MR, Collins FS, Dekker J, Cao K. Genome Res. 2013 Feb;23(2):260-9. Epub 2012 Nov 14.
Automated image analysis of nuclear shape: what can we learn from a prematurely aged cell?
Driscoll MK, Albanese JL, Xiong ZM, Mailman M, Losert W, Cao K. Envelhecimento (Albany NY). 2012 Feb;4(2):119-32.
Computational image analysis of nuclear morphology associated with various nuclear-specific aging disorders.
Choi S, Wang W, Ribeiro AJ, Kalinowski A, Gregg SQ, Opresko PL, Niedernhofer LJ, Rohde GK, Dahl KN. Núcleo. 2011 Nov 1;2(6):570-9. Epub 2011 Nov 1.
Rapamycin reverses cellular phenotypes and enhances mutant protein clearance in Hutchinson-Gilford progeria syndrome cells.
Cao K, Graziotto JJ, Blair CD, Mazzulli JR, Erdos MR, Krainc D, Collins FS. Sci Transl Med. 2011 Jun 29;3(89):89ra58.
Progerin and telomere dysfunction collaborate to trigger cellular senescence in normal human fibroblasts.
Cao K, Blair CD, Faddah DA, Kieckhaefer JE, Olive M, Erdos MR, Nabel EG, Collins FS. J Clin Invest. 2011 Jul 1;121(7):2833-44
Effect of progerin on the accumulation of oxidized proteins in fibroblasts from Hutchinson Gilford progeria patients.
Viteri G, Chung YW, Stadtman ER. Mech Ageing Dev. 2010 Jan;131(1):2-8.
A lamin A protein isoform overexpressed in Hutchinson-Gilford progeria syndrome interferes with mitosis in progeria and normal cells.
Cao K, Capell BC, Erdos MR, Djabali K, Collins FS. Proc Natl Acad Sci USA. 2007 Mar 20;104(12):4949-54.
HGADFN169
Aberrant migration features in primary skin fibroblasts of Huntington’s disease patients hold potential for unraveling disease progression using an image based machine learning tool
Gharaba S, Shalem A, Paz O, Muchtar N, Wolf L, Weil M. Comput Biol Med. Published online August 2, 2024. doi:10.1016/j.compbiomed.2024.108970
Cap de actina perturbada como um novo biomarcador personalizado em fibroblastos primários de pacientes com doença de Huntington
Gharaba S, Paz O, Feld L, Abashidze A, Weinrab M, Muchtar N, Baransi A, Shalem A, Sprecher U, Wolf L, Wolfenson H, Weil M. Front Cell Dev Biol. 18 de janeiro de 2023;11:1013721. doi: 10.3389/fcell.2023.1013721. PMID: 36743412; PMCID: PMC9889876.
SerpinE1 conduz uma sinalização patogênica autônoma da célula na síndrome de progeria de Hutchinson-Gilford
Catarinella G, Nicoletti C, Bracaglia A, et al. Cell Death Dis. 2022;13(8):737. Published 2022 Aug 26. doi:10.1038/s41419-022-05168-y
SAMMY-seq reveals early alteration of heterochromatin and deregulation of bivalent genes in Hutchinson-Gilford Progeria SyndromeNat
Sebestyén E, Marullo F, Lucini F, Petrini C, Bianchi A, Valsoni S, Olivieri I, Antonelli L, Gregoretti F, Oliva G, Ferrari F, Lanzuolo C. Commun. 2020 Dec 8;11(1):6274. doi: 10.1038/s41467-020-20048-9. PMID: 33293552; PMCID: PMC7722762.
Direct reprogramming of human smooth muscle and vascular endothelial cells reveals defects associated with aging and Hutchinson-Gilford progeria syndrome
Bersini S, Schulte R, Huang L, Tsai H, Hetzer MW. Elife. 2020 Sep 8;9:e54383. doi: 10.7554/eLife.54383. PMID: 32896271; PMCID: PMC7478891.
Epigenetic Deregulation of Lamina-Associated Domains in Hutchinson-Gilford Progeria Syndrome
Köhler F, Bormann F, Raddatz G, et al. Genome Med. 2020;12(1):46. Published 2020 May 25. doi:10.1186/s13073-020-00749-y
PML2-mediated Thread-Like Nuclear Bodies Mark Late Senescence in Hutchinson-Gilford Progeria Syndrome
Wang M, Wang L, Qian M, et al. [published online ahead of print, 2020 Apr 29]. Envelhecimento celular.
Correction acknowledging PRF for cell lines is pending
Transient Introduction of Human Telomerase mRNA Improves Hallmarks of Progeria Cells
Li Y, Zhou G, Bruno IG, et al. Envelhecimento celular 2019;18(4):e12979. doi:10.1111/acel.12979
Predicting Age From the Transcriptome of Human Dermal Fibroblasts
Fleischer JG, Schulte R, Tsai HH, et al. Genome Biol 2018;19(1):221. Published 2018 Dec 20. doi:10.1186/s13059-018-1599-6
Epigenetic clock for skin and blood cells applied to Hutchinson Gilford Progeria Syndrome and ex vivo studies
Horvath S, Oshima J, Martin GM, et al. Envelhecimento (Albany NY). 2018;10(7):1758-1775. doi:10.18632/aging.101508
Methylene blue alleviates nuclear and mitochondrial abnormalities in progeria.
Xiong ZM, Choi JY, Wang K, Zhang H, Tariq Z, Wu D, Ko E, LaDana C, Sesaki H, Cao K. Aging Cell. 2015 Dec 14. [Epub ahead of print]
Lamin A Is an Endogenous SIRT6 Activator and Promotes SIRT6-Mediated DNA Repair. Ghosh S, Liu B, Wang Y, Hao Q, Zhou Z. Representante de Célula. 2015 Nov 17;13(7):1396-1406. doi: 10.1016/j.celrep.2015.10.006. Epub 2015 Nov 5. PMID:26549451
Correlated alterations in genome organization, histone methylation, and DNA-lamin A/C interactions in Hutchinson-Gilford progeria syndrome.
McCord RP, Nazario-Toole A, Zhang H, Chines PS, Zhan Y, Erdos MR, Collins FS, Dekker J, Cao K. Genome Res. 2013 Feb;23(2):260-9. Epub 2012 Nov 14.
Depleting the methyltransferase Suv39h1 improves DNA repair and extends lifespan in a progeria mouse model.
Liu B, Wang Z, Zhang L, Ghosh S, Zheng H, Zhou Z. Comunidade Nacional. 2013;4:1868.
Rapamycin reverses cellular phenotypes and enhances mutant protein clearance in Hutchinson-Gilford progeria syndrome cells.
[sta_anchor id=”fn178″ unsan=”FN178″]Cao K, Graziotto JJ, Blair CD, Mazzulli JR, Erdos MR, Krainc D, Collins FS. Sci Transl Med. 2011 Jun 29;3(89):89ra58.
HGADFN178
Tratamento com peptídeo senoterapêutico reduz a idade biológica e a carga de senescência em modelos de pele humana
Zonari A, Brace LE, Al-Katib K, et al. 2024 Feb 15;10(1):14]. Envelhecimento NPJ. 2023;9(1):10. Publicado em 22 de maio de 2023. doi:10.1038/s41514-023-00109-1
Ativação do estresse do retículo endoplasmático no envelhecimento prematuro por meio da proteína da membrana nuclear interna SUN2
Vidak S, Serebryannyy LA, Pegoraro G, Misteli T. Representante de Célula. 2023;42(5):112534. doi:10.1016/j.celrep.2023.112534
Impacto do tratamento combinado com baricitinibe e FTI na adipogênese na síndrome de Hutchinson-Gilford Progeria e outras laminopatias lipodistróficas
Hartinger R, Lederer EM, Schena E, Lattanzi G, Djabali K. Cells. 2023;12(10):1350. Published 2023 May 9. doi:10.3390/cells12101350
Estabelecimento e caracterização de linhas celulares de fibroblastos de Hutchinson-Gilford Progeria imortalizadas por hTERT
Lin H, Mensch J, Haschke M, et al. Cells. 2022;11(18):2784. Published 2022 Sep 6. doi:10.3390/cells11182784
Quantificação de progerina farnesilada em células de pacientes com progeria de Hutchinson-Gilford por espectrometria de massa
Camafeita E, Jorge I, Rivera-Torres J, Andrés V, Vázquez J. Int J Mol Sci. 2022;23(19):11733. Published 2022 Oct 3. doi:10.3390/ijms231911733
Self-assembly of multi-component mitochondrial nucleoids via phase separation.
Feric M, Demarest TG, Tian J, Croteau DL, Bohr VA, Misteli T. EMBO J. 2021 Mar 15;40(6):e107165. doi: 10.15252/embj.2020107165. Epub 2021 Feb 23. PMID: 33619770; PMCID: PMC7957436.
Nuclear Pore Complexes Cluster in Dysmorphic Nuclei of Normal and Progeria Cells during Replicative Senescence.
Röhrl JM, Arnold R, Djabali K. Cells. 2021 Jan 14;10(1):153. doi: 10.3390/cells10010153. PMID: 33466669; PMCID: PMC7828780.
Direct reprogramming of human smooth muscle and vascular endothelial cells reveals defects associated with aging and Hutchinson-Gilford progeria syndrome
Bersini S, Schulte R, Huang L, Tsai H, Hetzer MW. Elife. 2020 Sep 8;9:e54383. doi: 10.7554/eLife.54383. PMID: 32896271; PMCID: PMC7478891.
Epigenetic Deregulation of Lamina-Associated Domains in Hutchinson-Gilford Progeria Syndrome
Köhler F, Bormann F, Raddatz G, et al. Genome Med. 2020;12(1):46. Published 2020 May 25. doi:10.1186/s13073-020-00749-y
Transient Introduction of Human Telomerase mRNA Improves Hallmarks of Progeria Cells
Li Y, Zhou G, Bruno IG, et al. Envelhecimento celular 2019;18(4):e12979. doi:10.1111/acel.12979
Predicting Age From the Transcriptome of Human Dermal Fibroblasts
Fleischer JG, Schulte R, Tsai HH, et al. Genome Biol 2018;19(1):221. Published 2018 Dec 20. doi:10.1186/s13059-018-1599-6
Epigenetic clock for skin and blood cells applied to Hutchinson Gilford Progeria Syndrome and ex vivo studies
Horvath S, Oshima J, Martin GM, et al. Envelhecimento (Albany NY). 2018;10(7):1758-1775. doi:10.18632/aging.101508
O sequestro de progerina do PCNA promove o colapso da forquilha de replicação e a deslocalização do XPA em síndromes progeroides relacionadas à laminopatia
Hilton BA, Liu J, Cartwright BM
Naïve adult stem cells from patients with Hutchinson-Gilford progeria syndrome express low levels of progerin in vivo.
Wenzel V, Roedl D, Gabriel D, Gordon LB, Herlyn M, Schneider R, Ring J, Djabali K.
Biol Open. 2012 Jun 15;1(6):516-26. Epub 2012 Apr 16.
HGADFN188
Aberrant migration features in primary skin fibroblasts of Huntington’s disease patients hold potential for unraveling disease progression using an image based machine learning tool
Gharaba S, Shalem A, Paz O, Muchtar N, Wolf L, Weil M. Comput Biol Med. Published online August 2, 2024. doi:10.1016/j.compbiomed.2024.108970
Cap de actina perturbada como um novo biomarcador personalizado em fibroblastos primários de pacientes com doença de Huntington
Gharaba S, Paz O, Feld L, Abashidze A, Weinrab M, Muchtar N, Baransi A, Shalem A, Sprecher U, Wolf L, Wolfenson H, Weil M. Front Cell Dev Biol. 18 de janeiro de 2023;11:1013721. doi: 10.3389/fcell.2023.1013721. PMID: 36743412; PMCID: PMC9889876.
Estabelecimento e caracterização de linhas celulares de fibroblastos de Hutchinson-Gilford Progeria imortalizadas por hTERT
Lin H, Mensch J, Haschke M, et al. Cells. 2022;11(18):2784. Published 2022 Sep 6. doi:10.3390/cells11182784
SerpinE1 conduz uma sinalização patogênica autônoma da célula na síndrome de progeria de Hutchinson-Gilford
Catarinella G, Nicoletti C, Bracaglia A, et al. Cell Death Dis. 2022;13(8):737. Published 2022 Aug 26. doi:10.1038/s41419-022-05168-y
Nuclear Pore Complexes Cluster in Dysmorphic Nuclei of Normal and Progeria Cells during Replicative Senescence.
Röhrl JM, Arnold R, Djabali K. Cells. 2021 Jan 14;10(1):153. doi: 10.3390/cells10010153. PMID: 33466669; PMCID: PMC7828780.
SAMMY-seq reveals early alteration of heterochromatin and deregulation of bivalent genes in Hutchinson-Gilford Progeria SyndromeNat
Sebestyén E, Marullo F, Lucini F, Petrini C, Bianchi A, Valsoni S, Olivieri I, Antonelli L, Gregoretti F, Oliva G, Ferrari F, Lanzuolo C. Commun. 2020 Dec 8;11(1):6274. doi: 10.1038/s41467-020-20048-9. PMID: 33293552; PMCID: PMC7722762.
Direct reprogramming of human smooth muscle and vascular endothelial cells reveals defects associated with aging and Hutchinson-Gilford progeria syndrome
Bersini S, Schulte R, Huang L, Tsai H, Hetzer MW. Elife. 2020 Sep 8;9:e54383. doi: 10.7554/eLife.54383. PMID: 32896271; PMCID: PMC7478891.
Epigenetic Deregulation of Lamina-Associated Domains in Hutchinson-Gilford Progeria Syndrome
Köhler F, Bormann F, Raddatz G, et al. Genome Med 2020;12(1):46. Published 2020 May 25. doi:10.1186/s13073-020-00749-y
Inhibition of JAK-STAT Signaling With Baricitinib Reduces Inflammation and Improves Cellular Homeostasis in Progeria Cells
Liu C, Arnold R, Henriques G, Djabali K. Células 2019;8(10):1276. Published 2019 Oct 18. doi:10.3390/cells8101276
Analysis of Somatic Mutations Identifies Signs of Selection During in Vitro Aging of Primary Dermal Fibroblasts
Narisu N, Rothwell R, Vrtačnik P, et al. Envelhecimento celular 2019;18(6):e13010. doi:10.1111/acel.13010
Predicting Age From the Transcriptome of Human Dermal Fibroblasts
Fleischer JG, Schulte R, Tsai HH, et al. Genome Biol 2018;19(1):221. Published 2018 Dec 20. doi:10.1186/s13059-018-1599-6
p53 isoforms regulate premature aging in human cells.
von Muhlinen N, Horikawa I, Alam F, Isogaya K, Lissa D, Vojtesek B, Lane DP, Harris CC.
Oncogene. 2018 Feb 12. doi: 10.1038/s41388-017-0101-3. [Epub ahead of print]
Epigenetic clock for skin and blood cells applied to Hutchinson Gilford Progeria Syndrome and ex vivo studies
Horvath S, Oshima J, Martin GM, et al. Envelhecimento (Albany NY). 2018;10(7):1758-1775. doi:10.18632/aging.101508
Temsirolimus Partially Rescues the Hutchinson-Gilford Progeria Cellular Phenotype.
Gabriel D, Gordon LB, Djabali K. PLoS Um 2016;11(12):e0168988. Published 2016 Dec 29. doi:10.1371/journal.pone.0168988
Progerin Impairs Chromosome Maintenance by Depleting CENP-F From Metaphase Kinetochores in Hutchinson-Gilford Progeria Fibroblasts
Eisch V, Lu X, Gabriel D, Djabali K. Oncotarget 2016;7(17):24700-24718. doi:10.18632/oncotarget.8267
Sulforaphane enhances progerin clearance in Hutchinson-Gilford progeria fibroblasts.
Gabriel D, Roedl D, Gordon LB, Djabali K. Envelhecimento celular. 2014 Dec 16: 1-14.
Depleting the methyltransferase Suv39h1 improves DNA repair and extends lifespan in a progeria mouse model.
Liu B, Wang Z, Zhang L, Ghosh S, Zheng H, Zhou Z. Comunidade Nacional. 2013;4:1868.
Naïve adult stem cells from patients with Hutchinson-Gilford progeria syndrome express low levels of progerin in vivo.
Wenzel V, Roedl D, Gabriel D, Gordon LB, Herlyn M, Schneider R, Ring J, Djabali K.
Biol Open. 2012 Jun 15;1(6):516-26. Epub 2012 Apr 16.
Defective lamin A-Rb signaling in Hutchinson-Gilford Progeria Syndrome and reversal by farnesyltransferase inhibition.
Marji J, O’Donoghue SI, McClintock D, Satagopam VP, Schneider R, Ratner D, Worman HJ, Gordon LB, Djabali K. PLoS Um. 2010 Jun 15;5(6):e11132.
HGADFN271
Enhancing Cellular Homeostasis: Targeted Botanical Compounds Boost Cellular Health Functions in Normal and Premature Aging Fibroblasts
Hartinger R, Singh K, Leverett J, Djabali K. Biomolecules. 2024;14(10):1310. Published 2024 Oct 16. doi:10.3390/biom14101310
Aberrant migration features in primary skin fibroblasts of Huntington’s disease patients hold potential for unraveling disease progression using an image based machine learning tool
Gharaba S, Shalem A, Paz O, Muchtar N, Wolf L, Weil M. Comput Biol Med. Published online August 2, 2024. doi:10.1016/j.compbiomed.2024.108970
Cap de actina perturbada como um novo biomarcador personalizado em fibroblastos primários de pacientes com doença de Huntington
Gharaba S, Paz O, Feld L, Abashidze A, Weinrab M, Muchtar N, Baransi A, Shalem A, Sprecher U, Wolf L, Wolfenson H, Weil M. Front Cell Dev Biol. 18 de janeiro de 2023;11:1013721. doi: 10.3389/fcell.2023.1013721. PMID: 36743412; PMCID: PMC9889876.
SAMMY-seq reveals early alteration of heterochromatin and deregulation of bivalent genes in Hutchinson-Gilford Progeria SyndromeNat
Sebestyén E, Marullo F, Lucini F, Petrini C, Bianchi A, Valsoni S, Olivieri I, Antonelli L, Gregoretti F, Oliva G, Ferrari F, Lanzuolo C. Commun. 2020 Dec 8;11(1):6274. doi: 10.1038/s41467-020-20048-9. PMID: 33293552; PMCID: PMC7722762.
Epigenetic Deregulation of Lamina-Associated Domains in Hutchinson-Gilford Progeria Syndrome
Köhler F, Bormann F, Raddatz G, et al. Genome Med. 2020;12(1):46. Published 2020 May 25. doi:10.1186/s13073-020-00749-y
Transient Introduction of Human Telomerase mRNA Improves Hallmarks of Progeria Cells
Li Y, Zhou G, Bruno IG, et al. Envelhecimento celular 2019;18(4):e12979. doi:10.1111/acel.12979
Epigenetic clock for skin and blood cells applied to Hutchinson Gilford Progeria Syndrome and ex vivo studies
Horvath S, Oshima J, Martin GM, et al. Envelhecimento (Albany NY). 2018;10(7):1758-1775. doi:10.18632/aging.101508
HGADFN367
O inibidor NLRP3 Dapansutrile melhora a ação terapêutica do lonafarnib em camundongos progeróides
Muela-Zarzuela I, Suarez-Rivero JM, Boy-Ruiz D, et al. Envelhecimento celular. Publicado on-line em 27 de agosto de 2024. doi:10.1111/acel.14272
Aberrant migration features in primary skin fibroblasts of Huntington’s disease patients hold potential for unraveling disease progression using an image based machine learning tool
Gharaba S, Shalem A, Paz O, Muchtar N, Wolf L, Weil M. Comput Biol Med. Published online August 2, 2024. doi:10.1016/j.compbiomed.2024.108970
Modelo de cardiomiócito derivado de paciente com progeria de Hutchinson-Gilford portador da variante do gene LMNA c.1824 C > T
Perales S, Sigamani V, Rajasingh S, Czirok A, Rajasingh J. [publicado online antes da impressão, 12 de agosto de 2023]. Res de Tecidos Celulares. 2023;10.1007/s00441-023-03813-2. doi:10.1007/s00441-023-03813-2
Cap de actina perturbada como um novo biomarcador personalizado em fibroblastos primários de pacientes com doença de Huntington
Gharaba S, Paz O, Feld L, Abashidze A, Weinrab M, Muchtar N, Baransi A, Shalem A, Sprecher U, Wolf L, Wolfenson H, Weil M. Front Cell Dev Biol. 18 de janeiro de 2023;11:1013721. doi: 10.3389/fcell.2023.1013721. PMID: 36743412; PMCID: PMC9889876.
SerpinE1 conduz uma sinalização patogênica autônoma da célula na síndrome de progeria de Hutchinson-Gilford
Catarinella G, Nicoletti C, Bracaglia A, et al. Cell Death Dis. 2022;13(8):737. Published 2022 Aug 26. doi:10.1038/s41419-022-05168-y
A inibição do inflamossomo NLRP3 melhora a expectativa de vida em modelo animal murino de Progeria de Hutchinson-Gilford
González-Dominguez A, Montañez R, Castejón-Vega B, et al. [published online ahead of print, 2021 Aug 27]. EMBO Mol Med. 2021;e14012. doi:10.15252/emmm.202114012
Uma abordagem terapêutica antisense direcionada para a síndrome de progeria de Hutchinson-Gilford
Erdos MR, Cabral WA, Tavarez UL, Cao K, Gvozdenovic-Jeremic J, Narisu N, Zerfas PM, Crumley S, Boku Y, Hanson G, Mourich DV, Kole R, Eckhaus MA, Gordon LB, Collins FS. Nat Med. 2021 Mar;27(3):536-545. doi: 10.1038/s41591-021-01274-0. Epub 2021 Mar 11. PMID: 33707773.
Direct reprogramming of human smooth muscle and vascular endothelial cells reveals defects associated with aging and Hutchinson-Gilford progeria syndrome
Bersini S, Schulte R, Huang L, Tsai H, Hetzer MW. Elife. 2020 Sep 8;9:e54383. doi: 10.7554/eLife.54383. PMID: 32896271; PMCID: PMC7478891.
Transient Introduction of Human Telomerase mRNA Improves Hallmarks of Progeria Cells
Li Y, Zhou G, Bruno IG, et al. Envelhecimento celular 2019;18(4):e12979. doi:10.1111/acel.12979
Predicting Age From the Transcriptome of Human Dermal Fibroblasts
Fleischer JG, Schulte R, Tsai HH, et al. Genome Biol 2018;19(1):221. Published 2018 Dec 20. doi:10.1186/s13059-018-1599-6
Epigenetic clock for skin and blood cells applied to Hutchinson Gilford Progeria Syndrome and ex vivo studies
Horvath S, Oshima J, Martin GM, et al. Envelhecimento (Albany NY). 2018;10(7):1758-1775. doi:10.18632/aging.101508
HGMDFN368
Enhancing Cellular Homeostasis: Targeted Botanical Compounds Boost Cellular Health Functions in Normal and Premature Aging Fibroblasts
Hartinger R, Singh K, Leverett J, Djabali K. Biomolecules. 2024;14(10):1310. Published 2024 Oct 16. doi:10.3390/biom14101310
O inibidor NLRP3 Dapansutrile melhora a ação terapêutica do lonafarnib em camundongos progeróides
Muela-Zarzuela I, Suarez-Rivero JM, Boy-Ruiz D, et al. Envelhecimento celular. Publicado on-line em 27 de agosto de 2024. doi:10.1111/acel.14272
Modelo de cardiomiócito derivado de paciente com progeria de Hutchinson-Gilford portador da variante do gene LMNA c.1824 C > T
Perales S, Sigamani V, Rajasingh S, Czirok A, Rajasingh J. [publicado online antes da impressão, 12 de agosto de 2023]. Res de Tecidos Celulares. 2023;10.1007/s00441-023-03813-2. doi:10.1007/s00441-023-03813-2
A inibição do inflamossomo NLRP3 melhora a expectativa de vida em modelo animal murino de Progeria de Hutchinson-Gilford
González-Dominguez A, Montañez R, Castejón-Vega B, et al. [published online ahead of print, 2021 Aug 27]. EMBO Mol Med. 2021;e14012. doi:10.15252/emmm.202114012
Uma abordagem terapêutica antisense direcionada para a síndrome de progeria de Hutchinson-Gilford
Erdos MR, Cabral WA, Tavarez UL, Cao K, Gvozdenovic-Jeremic J, Narisu N, Zerfas PM, Crumley S, Boku Y, Hanson G, Mourich DV, Kole R, Eckhaus MA, Gordon LB, Collins FS. Nat Med. 2021 Mar;27(3):536-545. doi: 10.1038/s41591-021-01274-0. Epub 2021 Mar 11. PMID: 33707773.
Direct reprogramming of human smooth muscle and vascular endothelial cells reveals defects associated with aging and Hutchinson-Gilford progeria syndrome
Bersini S, Schulte R, Huang L, Tsai H, Hetzer MW. Elife. 2020 Sep 8;9:e54383. doi: 10.7554/eLife.54383. PMID: 32896271; PMCID: PMC7478891.
Transient Introduction of Human Telomerase mRNA Improves Hallmarks of Progeria Cells
Li Y, Zhou G, Bruno IG, et al. Envelhecimento celular 2019;18(4):e12979. doi:10.1111/acel.12979
Epigenetic clock for skin and blood cells applied to Hutchinson Gilford Progeria Syndrome and ex vivo studies
Horvath S, Oshima J, Martin GM, et al. Envelhecimento (Albany NY). 2018;10(7):1758-1775. doi:10.18632/aging.101508
HGFDFN369
Enhancing Cellular Homeostasis: Targeted Botanical Compounds Boost Cellular Health Functions in Normal and Premature Aging Fibroblasts
Hartinger R, Singh K, Leverett J, Djabali K. Biomolecules. 2024;14(10):1310. Published 2024 Oct 16. doi:10.3390/biom14101310
Modelo de cardiomiócito derivado de paciente com progeria de Hutchinson-Gilford portador da variante do gene LMNA c.1824 C > TPerales S, Sigamani V, Rajasingh S, Czirok A, Rajasingh J. [publicado online antes da impressão, 12 de agosto de 2023]. Res de Tecidos Celulares. 2023;10.1007/s00441-023-03813-2. doi:10.1007/s00441-023-03813-2
Epigenetic clock for skin and blood cells applied to Hutchinson Gilford Progeria Syndrome and ex vivo studies
Horvath S, Oshima J, Martin GM, et al. Agi
HGADFN370
Imbalanced Nucleocytoskeletal Connections Create Common Polarity Defects in Progeria and Physiological Aging
Chang W, Wang Y, Luxton GWG, Östlund C, Worman HJ, Gundersen GG. Proc Natl Acad Sci EUA. 2019;116(9):3578‐3583. doi:10.1073/pnas.1809683116
HGMDFN371
Imbalanced Nucleocytoskeletal Connections Create Common Polarity Defects in Progeria and Physiological Aging
Chang W, Wang Y, Luxton GWG, Östlund C, Worman HJ, Gundersen GG. Proc Natl Acad Sci EUA. 2019;116(9):3578‐3583. doi:10.1073/pnas.1809683116
HGADFN496
Uma abordagem terapêutica antisense direcionada para a síndrome de progeria de Hutchinson-Gilford
Erdos MR, Cabral WA, Tavarez UL, Cao K, Gvozdenovic-Jeremic J, Narisu N, Zerfas PM, Crumley S, Boku Y, Hanson G, Mourich DV, Kole R, Eckhaus MA, Gordon LB, Collins FS. Nat Med. 2021 Mar;27(3):536-545. doi: 10.1038/s41591-021-01274-0. Epub 2021 Mar 11. PMID: 33707773.
HGMDFN717
Modelo de cardiomiócito derivado de paciente com progeria de Hutchinson-Gilford portador da variante do gene LMNA c.1824 C > T
Perales S, Sigamani V, Rajasingh S, Czirok A, Rajasingh J. [publicado online antes da impressão, 12 de agosto de 2023]. Res de Tecidos Celulares. 2023;10.1007/s00441-023-03813-2. doi:10.1007/s00441-023-03813-2
HGMDFN718
Uma abordagem terapêutica antisense direcionada para a síndrome de progeria de Hutchinson-Gilford
Erdos MR, Cabral WA, Tavarez UL, Cao K, Gvozdenovic-Jeremic J, Narisu N, Zerfas PM, Crumley S, Boku Y, Hanson G, Mourich DV, Kole R, Eckhaus MA, Gordon LB, Collins FS. Nat Med. 2021 Mar;27(3):536-545. doi: 10.1038/s41591-021-01274-0. Epub 2021 Mar 11. PMID: 33707773.
PSADFN086
(formally HGADFN086)
Epigenetic clock for skin and blood cells applied to Hutchinson Gilford Progeria Syndrome and ex vivo studies
Horvath S, Oshima J, Martin GM, et al. Envelhecimento (Albany NY).
Increased progerin expression associated with unusual LMNA mutations causes severe progeroid syndromes.
Moulson CL, Fong LG, Gardner JM, Farber EA, Go G, Passariello A, Grange DK, Young SG, Miner JH. Hum Mutat. 2007 Sep;28(9):882-9.
PSADFN257
A Cell-Intrinsic Interferon-like Response Links Replication Stress to Cellular Aging Caused by Progerin.
Kreienkamp R, Graziano S, Coll-Bonfill N, Bedia-Diaz G, Cybulla E, Vindigni A, Dorsett D, Kubben N, Batista LFZ, Gonzalo S. Representante de Célula. 2018 Feb 20;22(8):2006-2015.
Epigenetic clock for skin and blood cells applied to Hutchinson Gilford Progeria Syndrome and ex vivo studies
Horvath S, Oshima J, Martin GM, et al. Envelhecimento (Albany NY). 2018;10(7):1758-1775. doi:10.18632/aging.101508
Vitamin D Receptor Signaling Improves Hutchinson-Gilford Progeria Syndrome Cellular Phenotypes
Kreienkamp R, Croke M, Neumann MA, et al. Oncotarget 2016;7(21):30018-30031. doi:10.18632/oncotarget.9065
PSADFN317
Impacto do tratamento combinado com baricitinibe e FTI na adipogênese na síndrome de Hutchinson-Gilford Progeria e outras laminopatias lipodistróficas
Hartinger R, Lederer EM, Schena E, Lattanzi G, Djabali K. Cells. 2023;12(10):1350. Published 2023 May 9. doi:10.3390/cells12101350
Epigenetic clock for skin and blood cells applied to Hutchinson Gilford Progeria Syndrome and ex vivo studies
Horvath S, Oshima J, Martin GM, et al. Envelhecimento (Albany NY). 2018;10(7):1758-1775. doi:10.18632/aging.101508
PSADFN318
Impacto do tratamento combinado com baricitinibe e FTI na adipogênese na síndrome de Hutchinson-Gilford Progeria e outras laminopatias lipodistróficas
Hartinger R, Lederer EM, Schena E, Lattanzi G, Djabali K. Cells. 2023;12(10):1350. Published 2023 May 9. doi:10.3390/cells12101350
Epigenetic clock for skin and blood cells applied to Hutchinson Gilford Progeria Syndrome and ex vivo studies
Horvath S, Oshima J, Martin GM, et al. Envelhecimento (Albany NY). 2018;10(7):1758-1775. doi:10.18632/aging.101508
PSFDFN319
Epigenetic clock for skin and blood cells applied to Hutchinson Gilford Progeria Syndrome and ex vivo studies
Horvath S, Oshima J, Martin GM, et al. Envelhecimento (Albany NY). 2018;10(7):1758-1775. doi:10.18632/aging.101508
Rapamycin reverses cellular phenotypes and enhances mutant protein clearance in Hutchinson-Gilford progeria syndrome cells.
Cao K, Graziotto JJ, Blair CD, Mazzulli JR, Erdos MR, Krainc D, Collins FS. Sci Transl Med. 2011 Jun 29;3(89):89ra58.
PSMDFN320
Epigenetic clock for skin and blood cells applied to Hutchinson Gilford Progeria Syndrome and ex vivo studies
Horvath S, Oshima J, Martin GM,
Rapamycin reverses cellular phenotypes and enhances mutant protein clearance in Hutchinson-Gilford progeria syndrome cells.
Cao K, Graziotto JJ, Blair CD, Mazzulli JR, Erdos MR, Krainc D, Collins FS. Sci Transl Med. 2011 Jun 29;3(89):89ra58.
PSMDFN326
Epigenetic clock for skin and blood cells applied to Hutchinson Gilford Progeria Syndrome and ex vivo studies
Horvath S, Oshima J, Martin GM, et al. Envelhecimento (Albany NY). 2018;10(7):1758-1775. doi:10.18632/aging.101508
PSFDFN327
A Cell-Intrinsic Interferon-like Response Links Replication Stress to Cellular Aging Caused by Progerin.
Kreienkamp R, Graziano S, Coll-Bonfill N, Bedia-Diaz G, Cybulla E, Vindigni A, Dorsett D, Kubben N, Batista LFZ, Gonzalo S. Representante de Célula. 2018 Feb 20;22(8):2006-2015.
Epigenetic clock for skin and blood cells applied to Hutchinson Gilford Progeria Syndrome and ex vivo studies
Horvath S, Oshima J, Martin GM, et al. Envelhecimento (Albany NY). 2018;10(7):1758-1775. doi:10.18632/aging.101508
Vitamin D Receptor Signaling Improves Hutchinson-Gilford Progeria Syndrome Cellular Phenotypes
Kreienkamp R, Croke M, Neumann MA, et al. Oncotarget 2016;7(21):30018-30031. doi:10.18632/oncotarget.9065
PSMDFN346
A Cell-Intrinsic Interferon-like Response Links Replication Stress to Cellular Aging Caused by Progerin.
Kreienkamp R, Graziano S, Coll-Bonfill N, Bedia-Diaz G, Cybulla E, Vindigni A, Dorsett D, Kubben N, Batista LFZ, Gonzalo S. Representante de Célula. 2018 Feb 20;22(8):2006-2015.
Epigenetic clock for skin and blood cells applied to Hutchinson Gilford Progeria Syndrome and ex vivo studies
Horvath S, Oshima J, Martin GM, et al. Envelhecimento (Albany NY). 2018;10(7):1758-1775. doi:10.18632/aging.101508
Vitamin D Receptor Signaling Improves Hutchinson-Gilford Progeria Syndrome Cellular Phenotypes
Kreienkamp R, Croke M, Neumann MA, et al. Oncotarget 2016;7(21):30018-30031. doi:10.18632/oncotarget.9065
PSADFN363
O inibidor da farnesil transferase (FTI) lonafarnib melhora a morfologia nuclear em fibroblastos deficientes em ZMPSTE24 de pacientes com o distúrbio progeroide MAD-B
Odinammadu KO, Shilagardi K, Tuminelli K, Juiz DP, Gordon LB, Michaelis S. Núcleo. 2023;14(1):2288476. doi:10.1080/19491034.2023.2288476
PSADFN373
O direcionamento da enzima conversora de RAS 1 supera a senescência e melhora os fenótipos semelhantes à progeria da deficiência de ZMPSTE24
Yao H, Chen X, Kashif M, Wang T, Ibrahim MX, Tüksammel E, Revêchon G, Eriksson M, Wiel C, Bergo MO. Aging Cell. 2020 Aug;19(8):e13200. doi: 10.1111/acel.13200. Epub 2020 Jul 24. PMID: 32910507; PMCID: PMC7431821.
PSADFN392
Uma nova mutação somática alcança resgate parcial em uma criança com síndrome de progeria de Hutchinson-Gilford
Bar DZ, Arlt MF, Brazier JF, et al. J Med Genet. 2017;54(3):212-216. doi:10.1136/jmedgenet-2016-104295
A Cell-Intrinsic Interferon-like Response Links Replication Stress to Cellular Aging Caused by Progerin.
Kreienkamp R, Graziano S, Coll-Bonfill N, Bedia-Diaz G, Cybulla E, Vindigni A, Dorsett D, Kubben N, Batista LFZ, Gonzalo S. Representante de Célula. 2018 Feb 20;22(8):2006-2015.
Epigenetic clock for skin and blood cells applied to Hutchinson Gilford Progeria Syndrome and ex vivo studies
Horvath S, Oshima J, Martin GM, et al. Envelhecimento (Albany NY). 2018;10(7):1758-1775. doi:10.18632/aging.101508
Vitamin D Receptor Signaling Improves Hutchinson-Gilford Progeria Syndrome Cellular Phenotypes
Kreienkamp R, Croke M, Neumann MA, et al. Oncotarget 2016;7(21):30018-30031. doi:10.18632/oncotarget.9065
PSADFN423
Uma nova mutação somática alcança resgate parcial em uma criança com síndrome de progeria de Hutchinson-Gilford
Bar DZ, Arlt MF, Brazier JF, et al. J Med Genet. 2017;54(3):212-216. doi:10.1136/jmedgenet-2016-104295
PSADFN485
O inibidor da farnesil transferase (FTI) lonafarnib melhora a morfologia nuclear em fibroblastos deficientes em ZMPSTE24 de pacientes com o distúrbio progeroide MAD-B
Odinammadu KO, Shilagardi K, Tuminelli K, Juiz DP, Gordon LB, Michaelis S. Núcleo. 2023;14(1):2288476. doi:10.1080/19491034.2023.2288476
PSADFN542
O inibidor da farnesil transferase (FTI) lonafarnib melhora a morfologia nuclear em fibroblastos deficientes em ZMPSTE24 de pacientes com o distúrbio progeroide MAD-B
Odinammadu KO, Shilagardi K, Tuminelli K, Juiz DP, Gordon LB, Michaelis S. Núcleo. 2023;14(1):2288476. doi:10.1080/19491034.2023.2288476
PSADFN386
Uma nova mutação somática alcança resgate parcial em uma criança com síndrome de progeria de Hutchinson-Gilford
Bar DZ, Arlt MF, Brazier JF, et al. J Med Genet. 2017;54(3):212-216. doi:10.1136/jmedgenet-2016-104295
MG132 induz a depuração da progerina e melhora os fenótipos da doença em células de pacientes semelhantes a HGPS
Harhouri K, Cau P, Casey F, et al. Células. 2022;11(4):610. Published 2022 Feb 10. doi:10.3390/cells11040610
PSMDFN371
Uma nova mutação somática alcança resgate parcial em uma criança com síndrome de progeria de Hutchinson-GilfordBar DZ, Arlt MF, Brazier JF, et al. J Med Genet. 2017;54(3):212-216. doi:10.1136/jmedgenet-2016-104295
PSMDFN387
Uma nova mutação somática alcança resgate parcial em uma criança com síndrome de progeria de Hutchinson-GilfordBar DZ, Arlt MF, Brazier JF, et al. J Med Genet. 2017;54(3):212-216. doi:10.1136/jmedgenet-2016-104295
PSFDFN388
Uma nova mutação somática alcança resgate parcial em uma criança com síndrome de progeria de Hutchinson-GilfordBar DZ, Arlt MF, Brazier JF, et al. J Med Genet. 2017;54(3):212-216. doi:10.1136/jmedgenet-2016-104295
PSMDFN393
Uma nova mutação somática alcança resgate parcial em uma criança com síndrome de progeria de Hutchinson-GilfordBar DZ, Arlt MF, Brazier JF, et al. J Med Genet. 2017;54(3):212-216. doi:10.1136/jmedgenet-2016-104295
Epigenetic clock for skin and blood cells applied to Hutchinson Gilford Progeria Syndrome and ex vivo studies
Horvath S, Oshima J, Martin GM, et al. Envelhecimento (Albany NY). 2018;10(7):1758-1775. doi:10.18632/aging.101508
PSFDFN394
Uma nova mutação somática alcança resgate parcial em uma criança com síndrome de progeria de Hutchinson-Gilford
Bar DZ, Arlt MF, Brazier JF, et al. J Med Genet. 2017;54(3):212-216. doi:10.1136/jmedgenet-2016-104295
Epigenetic clock for skin and blood cells applied to Hutchinson Gilford Progeria Syndrome and ex vivo studies
Horvath S, Oshima J, Martin GM, et al. Envelhecimento (Albany NY). 2018;10(7):1758-1775. doi:10.18632/aging.101508
PSADFN414
Everolimus Rescues Multiple Cellular Defects in Laminopathy-Patient Fibroblasts
DuBose AJ, Lichtenstein ST, Petrash NM, Erdos MR, Gordon LB, Collins FS [published correction appears in Proc Natl Acad Sci U S A. 2018 Apr 16;:]. Proc Natl Acad Sci EUA. 2018;115(16):4206‐4211. doi:10.1073/pnas.1802811115
PSADFN425
Everolimus Rescues Multiple Cellular Defects in Laminopathy-Patient Fibroblasts
DuBose AJ, Lichtenstein ST, Petrash NM, Erdos MR, Gordon LB, Collins FS [published correction appears in Proc Natl Acad Sci U S A. 2018 Apr 16;:].
HGADFN003 iPS1B
Células endoteliais derivadas de iPSC afetam a função vascular em um modelo de vaso sanguíneo projetado por engenharia tecidual da síndrome de Hutchinson-Gilford Progeria
Atchison L, Abutaleb NO, Snyder-Mounts E, et al. Stem Cell Reports 2020;14(2):325‐337. doi:10.1016/j.stemcr.2020.01.005
Progerin Phosphorylation in Interphase Is Lower and Less Mechanosensitive Than lamin-A,C in iPS-derived Mesenchymal Stem Cells
Cho S, Abbas A, Irianto J, et al.. Núcleo 2018;9(1):230-245. doi:10.1080/19491034.2018.1460185
Reprogramming Progeria Fibroblasts Re-Establishes a Normal Epigenetic LandscapeChen Z, Chang WY, Etheridge A, et al. Envelhecimento celular 2017;16(4):870‐887. doi:10.1111/acel.12621
HGADFN003 iPS1C
Modelo vascular baseado em progéria identifica redes associadas ao envelhecimento e doenças cardiovasculares
Ngubo M, Chen Z, McDonald D, et al. Envelhecimento celular. Publicado on-line em 4 de abril de 2024. doi:10.1111/acel.14150
Células endoteliais derivadas de iPSC afetam a função vascular em um modelo de vaso sanguíneo projetado por engenharia tecidual da síndrome de Hutchinson-Gilford Progeria
Atchison L, Abutaleb NO, Snyder-Mounts E, et al. Stem Cell Reports 2020;14(2):325‐337. doi:10.1016/j.stemcr.2020.01.005
Reprogramming Progeria Fibroblasts Re-Establishes a Normal Epigenetic Landscape
Chen Z, Chang WY, Etheridge A, et al. Envelhecimento celular. 2017;16(4):870‐887. doi:10.1111/acel.12621
HGADFN003 iPS1D
Lonafarnib and everolimus reduce pathology in iPSC-derived tissue engineered blood vessel model of Hutchinson-Gilford Progeria Syndrome.
Abutaleb NO, Atchison L, Choi L, Bedapudi A, Shores K, Gete Y, Cao K, Truskey GA. Sci Rep. 2023 Mar 28;13(1):5032. doi: 10.1038/s41598-023-32035-3. PMID: 36977745; PMCID: PMC10050176.
Células endoteliais derivadas de iPSC afetam a função vascular em um modelo de vaso sanguíneo projetado por engenharia tecidual da síndrome de Hutchinson-Gilford Progeria
Atchison L, Abutaleb NO, Snyder-Mounts E, et al. Stem Cell Reports 2020;14(2):325‐337. doi:10.1016/j.stemcr.2020.01.005
Dysfunction of iPSC-derived Endothelial Cells in Human Hutchinson-Gilford Progeria Syndrome
Matrone G, Thandavarayan RA, Walther BK, Meng S, Mojiri A, Cooke JP. Cell Cycle 2019;18(19):2495‐2508. doi:10.1080/15384101.2019.1651587
HGMDFN090 iPS1B
Dysfunction of iPSC-derived Endothelial Cells in Human Hutchinson-Gilford Progeria Syndrome
Matrone G, Thandavarayan RA, Walther BK, Meng S, Mojiri A, Cooke JP. Cell Cycle 2019;18(19):2495‐2508. doi:10.1080/15384101.2019.1651587
Reprogramming Progeria Fibroblasts Re-Establishes a Normal Epigenetic Landscape
Chen Z, Chang WY, Etheridge A, et al. Envelhecimento celular. 2017;16(4):870‐887. doi:10.1111/acel.12621
HGMDFN090 iPS1C
Modelo vascular baseado em progéria identifica redes associadas ao envelhecimento e doenças cardiovasculares
Ngubo M, Chen Z, McDonald D, et al. Envelhecimento celular. Publicado on-line em 4 de abril de 2024. doi:10.1111/acel.14150
Modelo de envelhecimento para análise de riscos de proarritmia induzida por medicamentos usando cardiomiócitos diferenciados de células-tronco pluripotentes induzidas derivadas de pacientes com progéria
Diário N, Elson J, Wakatsuki T. Int J Mol Ciência. 2023;24(15):11959. Publicado em 26 de julho de 2023. doi:10.3390/ijms241511959
Reprogramming Progeria Fibroblasts Re-Establishes a Normal Epigenetic Landscape
Chen Z, Chang WY, Etheridge A, et al. Envelhecimento celular. 2017;16(4):870‐887. doi:10.1111/acel.12621
HGADFN167 iPS1J
Modelo de envelhecimento para análise de riscos de proarritmia induzida por medicamentos usando cardiomiócitos diferenciados de células-tronco pluripotentes induzidas derivadas de pacientes com progéria
Diário N, Elson J, Wakatsuki T. Int J Mol Ciência. 2023;24(15):11959. Publicado em 26 de julho de 2023. doi:10.3390/ijms241511959
Modelagem do envelhecimento cardíaco prematuro com células-tronco pluripotentes induzidas de um paciente com Síndrome de Progeria de Hutchinson-Gilford
Monnerat G, Kasai-Brunswick TH, Asensi KD, et al. Modelagem do envelhecimento cardíaco prematuro com células-tronco pluripotentes induzidas de um paciente com Síndrome de Progeria de Hutchinson-Gilford. Fisiol Frontal. 2022;13:1007418. Publicado em 23 de novembro de 2022. doi:10.3389/fphys.2022.1007418
Reprogramming Progeria Fibroblasts Re-Establishes a Normal Epigenetic Landscape
Chen Z, Chang WY, Etheridge A, et al. Envelhecimento celular. 2017;16(4):870‐887. doi:10.1111/acel.12621
Mechanisms Controlling the Smooth Muscle Cell Death in Progeria via Down-Regulation of poly(ADP-ribose) Polymerase 1
Zhang H, Xiong ZM, Cao K. Proc Natl Acad Sci U S A. 2014;111(22):E2261‐E2270. doi:10.1073/pnas.1320843111
HGADFN167 iPS1Q
Senescência vascular na progeria: papel da disfunção endotelial
Xu Q, Mojiri A, Boulahouache L, Morales E, Walther BK, Cooke JP. Eur Heart J Open. 2022;2(4):oeac047. Published 2022 Jul 28. doi:10.1093/ehjopen/oeac047
Dysfunction of iPSC-derived Endothelial Cells in Human Hutchinson-Gilford Progeria Syndrome
Matrone G, Thandavarayan RA, Walther BK, Meng S, Mojiri A, Cooke JP. Cell Cycle 2019;18(19):2495‐2508. doi:10.1080/15384101.2019.1651587
Reprogramming Progeria Fibroblasts Re-Establishes a Normal Epigenetic Landscape
Chen Z, Chang WY, Etheridge A, et al. Envelhecimento celular 2017;16(4):870‐887. doi:10.1111/acel.12621
HGFDFN168 iPS1D2
Reprogramming Progeria Fibroblasts Re-Establishes a Normal Epigenetic Landscape
Chen Z, Chang WY, Etheridge A, et al. Envelhecimento celular. 2017;16(4):870‐887. doi:10.1111/acel.12621
Mechanisms Controlling the Smooth Muscle Cell Death in Progeria via Down-Regulation of poly(ADP-ribose) Polymerase 1
Zhang H, Xiong ZM, Cao K. Proc Natl Acad Sci EUA 2014;111(22):E2261‐E2270. doi:10.1073/pnas.1320843111
HGFDFN168 iPS1P
Senescência vascular na progeria: papel da disfunção endotelial
Xu Q, Mojiri A, Boulahouache L, Morales E, Walther BK, Cooke JP. Eur Heart J Open. 2022;2(4):oeac047. Published 2022 Jul 28. doi:10.1093/ehjopen/oeac047
Dysfunction of iPSC-derived Endothelial Cells in Human Hutchinson-Gilford Progeria Syndrome
Matrone G, Thandavarayan RA, Walther BK, Meng S, Mojiri A, Cooke JP. Cell Cycle 2019;18(19):2495‐2508. doi:10.1080/15384101.2019.1651587
Reprogramming Progeria Fibroblasts Re-Establishes a Normal Epigenetic Landscape
Chen Z, Chang WY, Etheridge A, et al. Envelhecimento celular 2017;16(4):870‐887. doi:10.1111/acel.12621
HGALBV009
A inibição do inflamossomo NLRP3 melhora a expectativa de vida em modelo animal murino de Progeria de Hutchinson-Gilford
González-Dominguez A, Montañez R, Castejón-Vega B, et al. [published online ahead of print, 2021 Aug 27]. EMBO Mol Med. 2021;e14012. doi:10.15252/emmm.202114012
Stem cell depletion in Hutchinson-Gilford progeria syndrome.
Rosengardten Y, McKenna T, Grochová D, Eriksson M. Aging Cell. 2011 Dec;10(6):1011-20. Epub 2011 Oct 11.
Low and high expressing alleles of the LMNA gene: implications for laminopathy disease development.
Rodríguez S, Eriksson M. PLoS One. 2011;6(9):e25472. Epub 2011 Sep 29.
Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome.
Eriksson M, Brown WT, Gordon LB, Glynn MW, Singer J, Scott L, Erdos MR, Robbins CM, Moses TY, Berglund P, Dutra A, Pak E, Durkin S, Csoka AB, Boehnke M, Glover TW, Collins FS. Natureza. 2003 May 15;423(6937):293-8. Epub 2003 Apr 25.
HGMLBV010
Stem cell depletion in Hutchinson-Gilford progeria syndrome.
Rosengardten Y, McKenna T, Grochová D, Eriksson M. Aging Cell. 2011 Dec;10(6):1011-20. Epub 2011 Oct 11.
Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome.
Eriksson M, Brown WT, Gordon LB, Glynn MW, Singer J, Scott L, Erdos MR, Robbins CM, Moses TY, Berglund P, Dutra A, Pak E, Durkin S, Csoka AB, Boehnke M, Glover TW, Collins FS. Natureza. 2003 May 15;423(6937):293-8. Epub 2003 Apr 25.
HGALBV011
Low and high expressing alleles of the LMNA gene: implications for laminopathy disease development.
Rodríguez S, Eriksson M. PLoS One. 2011;6(9):e25472. Epub 2011 Sep 29.
Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome.
Eriksson M, Brown WT, Gordon LB, Glynn MW, Singer J, Scott L, Erdos MR, Robbins CM, Moses TY, Berglund P, Dutra A, Pak E, Durkin S, Csoka AB, Boehnke M, Glover TW, Collins FS. Natureza. 2003 May 15;423(6937):293-8. Epub 2003 Apr 25.
HGMLBV013
Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome.
Eriksson M, Brown WT, Gordon LB, Glynn MW, Singer J, Scott L, Erdos MR, Robbins CM, Moses TY, Berglund P, Dutra A, Pak E, Durkin S, Csoka AB, Boehnke M, Glover TW, Collins FS. Natureza. 2003 May 15;423(6937):293-8. Epub 2003 Apr 25.
HGFLBV021
A inibição do inflamossomo NLRP3 melhora a expectativa de vida em modelo animal murino de Progeria de Hutchinson-Gilford
González-Dominguez A, Montañez R, Castejón-Vega B, et al. [published online ahead of print, 2021 Aug 27]. EMBO Mol Med. 2021;e14012. doi:10.15252/emmm.202114012
Stem cell depletion in Hutchinson-Gilford progeria syndrome.
Rosengardten Y, McKenna T, Grochová D, Eriksson M. Aging Cell. 2011 Dec;10(6):1011-20. Epub 2011 Oct 11.
Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome.
Eriksson M, Brown WT, Gordon LB, Glynn MW, Singer J, Scott L, Erdos MR, Robbins CM, Moses TY, Berglund P, Dutra A, Pak E, Durkin S, Csoka AB, Boehnke M, Glover TW, Collins FS. Natureza. 2003 May 15;423(6937):293-8. Epub 2003 Apr 25.
HGMLBV023
Stem cell depletion in Hutchinson-Gilford progeria syndrome.
Rosengardten Y, McKenna T, Grochová D, Eriksson M. Aging Cell. 2011 Dec;10(6):1011-20. Epub 2011 Oct 11.
Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome.
Eriksson M, Brown WT, Gordon LB, Glynn MW, Singer J, Scott L, Erdos MR, Robbins CM, Moses TY, Berglund P, Dutra A, Pak E, Durkin S, Csoka AB, Boehnke M, Glover TW, Collins FS. Natureza. 2003 May 15;423(6937):293-8. Epub 2003 Apr 25.
HGFLBV031
Stem cell depletion in Hutchinson-Gilford progeria syndrome.
Rosengardten Y, McKenna T, Grochová D, Eriksson M. Aging Cell. 2011 Dec;10(6):1011-20. Epub 2011 Oct 11.
Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome.
Eriksson M, Brown WT, Gordon LB, Glynn MW, Singer J, Scott L, Erdos MR, Robbins CM, Moses TY, Berglund P, Dutra A, Pak E, Durkin S, Csoka AB, Boehnke M, Glover TW, Collins FS. Natureza. 2003 May 15;423(6937):293-8. Epub 2003 Apr 25.
HGFLBV050
Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome.
Eriksson M, Brown WT, Gordon LB, Glynn MW, Singer J, Scott L, Erdos MR, Robbins CM, Moses TY, Berglund P, Dutra A, Pak E, Durkin S, Csoka AB, Boehnke M, Glover TW, Collins FS. Natureza. 2003 May 15;423(6937):293-8. Epub 2003 Apr 25.
HGALBV057
Stem cell depletion in Hutchinson-Gilford progeria syndrome.
Rosengardten Y, McKenna T, Grochová D, Eriksson M. Aging Cell. 2011 Dec;10(6):1011-20. Epub 2011 Oct 11.
Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome.
Eriksson M, Brown WT, Gordon LB, Glynn MW, Singer J, Scott L, Erdos MR, Robbins CM, Moses TY, Berglund P, Dutra A, Pak E, Durkin S, Csoka AB, Boehnke M, Glover TW, Collins FS. Natureza. 2003 May 15;423(6937):293-8. Epub 2003 Apr 25.
HGMLBV058
Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome.
Eriksson M, Brown WT, Gordon LB, Glynn MW, Singer J, Scott L, Erdos MR, Robbins CM, Moses TY, Berglund P, Dutra A, Pak E, Durkin S, Csoka AB, Boehnke M, Glover TW, Collins FS. Natureza. 2003 May 15;423(6937):293-8. Epub 2003 Apr 25.
HGSLBV059
Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome.
Eriksson M, Brown WT, Gordon LB, Glynn MW, Singer J, Scott L, Erdos MR, Robbins CM, Moses TY, Berglund P, Dutra A, Pak E, Durkin S, Csoka AB, Boehnke M, Glover TW, Collins FS. Natureza. 2003 May 15;423(6937):293-8. Epub 2003 Apr 25.
HGMLBV066
Stem cell depletion in Hutchinson-Gilford progeria syndrome.
Rosengardten Y, McKenna T, Grochová D, Eriksson M. Aging Cell. 2011 Dec;10(6):1011-20. Epub 2011 Oct 11.
Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome.
Eriksson M, Brown WT, Gordon LB, Glynn MW, Singer J, Scott L, Erdos MR, Robbins CM, Moses TY, Berglund P, Dutra A, Pak E, Durkin S, Csoka AB, Boehnke M, Glover TW, Collins FS. Natureza. 2003 May 15;423(6937):293-8. Epub 2003 Apr 25.
HGFLBV067
Stem cell depletion in Hutchinson-Gilford progeria syndrome.
Rosengardten Y, McKenna T, Grochová D, Eriksson M. Aging Cell. 2011 Dec;10(6):1011-20. doi: 10.1111/j.1474-9726.2011.00743.x. Epub 2011 Oct 11.
Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome.
Eriksson M, Brown WT, Gordon LB, Glynn MW, Singer J, Scott L, Erdos MR, Robbins CM, Moses TY, Berglund P, Dutra A, Pak E, Durkin S, Csoka AB, Boehnke M, Glover TW, Collins FS. Natureza. 2003 May 15;423(6937):293-8. Epub 2003 Apr 25.
HGALBV071
Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome.
Eriksson M, Brown WT, Gordon LB, Glynn MW, Singer J, Scott L, Erdos MR, Robbins CM, Moses TY, Berglund P, Dutra A, Pak E, Durkin S, Csoka AB, Boehnke M, Glover TW, Collins FS. Natureza. 2003 May 15;423(6937):293-8. Epub 2003 Apr 25.
HGMLBV081
Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome.
Eriksson M, Brown WT, Gordon LB, Glynn MW, Singer J, Scott L, Erdos MR, Robbins CM, Moses TY, Berglund P, Dutra A, Pak E, Durkin S, Csoka AB, Boehnke M, Glover TW, Collins FS. Natureza. 2003 May 15;423(6937):293-8. Epub 2003 Apr 25.
HGFLBV082
Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome.
Eriksson M, Brown WT, Gordon LB, Glynn MW, Singer J, Scott L, Erdos MR, Robbins CM, Moses TY, Berglund P, Dutra A, Pak E, Durkin S, Csoka AB, Boehnke M, Glover TW, Collins FS. Natureza. 2003 May 15;423(6937):293-8. Epub 2003 Apr 25.
DNA
A hematopoiese clonal não é prevalente na síndrome de progeria de Hutchinson-Gilford
Díez-Díez M, Amorós-Pérez M, de la Barrera J, et al. [published online ahead of print, 2022 Jun 25]. Geroscience. 2022;10.1007/s11357-022-00607-2. doi:10.1007/s11357-022-00607-2
A Novel Somatic Mutation Achieves Partial Rescue in a Child With Hutchinson-Gilford Progeria Syndrome
Bar DZ, Arlt MF, Brazier JF, et al. J Med Genet 2017;54(3):212-216. doi:10.1136/jmedgenet-2016-104295
Introdução transitória de mRNA da telomerase humana melhora as características das células de progeria
Li Y, Zhou G, Bruno IG, et al. Envelhecimento celular 2019;18(4):e12979. doi:10.1111/acel.12979
Epigenetic clock for skin and blood cells applied to Hutchinson Gilford Progeria Syndrome and ex vivo studies
Horvath S, Oshima J, Martin GM, et al. Envelhecimento (Albany NY). 2018;10(7):1758-1775. doi:10.18632/aging.101508
Autopsy tissue
Remodeling of the Cardiac Extracellular Matrix Proteome During Chronological and Pathological Aging
Santinha D, Vilaça A, Estronca L, et al. Mol Cell Proteomics. 2024;23(1):100706. doi:10.1016/j.mcpro.2023.100706
Aterosclerose em humanos antigos, síndromes de envelhecimento acelerado e envelhecimento normal: a lamina é uma proteína elo comum?
Miyamoto MI, Djabali K, Gordon LB. Coração Glob. 2014;9(2):211-218. doi:10.1016/j.gheart.2014.04.001
Cardiovascular Pathology in Hutchinson-Gilford Progeria: Correlation With the Vascular Pathology of Aging
Olive M, Harten I, Mitchell R, et al. Arterioscler Trombo Vasc Biol 2010;30(11):2301-2309. doi:10.1161/ATVBAHA.110.209460
Hutchinson-Gilford Progeria Mutant Lamin A Primarily Targets Human Vascular Cells as Detected by an anti-Lamin A G608G Antibody
McClintock D, Gordon LB, Djabali K. Proc Natl Acad Sci U S A. 2006;103(7):2154-2159. doi:10.1073/pnas.0511133103
Plasma
O nicho vascular envelhecido dificulta a osteogênese das células-tronco mesenquimais por meio da repressão parácrina do eixo Wnt
Fleischhacker V, Milosic F, Bricelj M, et al. Envelhecimento celular. Publicado on-line em 5 de abril de 2024. doi:10.1111/acel.14139
Metabolomic Profiling Suggests Systemic Signatures of Premature Aging Induced by Hutchinson-Gilford Progeria Syndrome
Monnerat G, Evaristo GPC, Evaristo JAM, et al. Metabolomics 2019;15(7):100. Published 2019 Jun 28. doi:10.1007/s11306-019-1558-6
Progerina plasmática em pacientes com síndrome de Hutchinson-Gilford Progeria: desenvolvimento de imunoensaio e avaliação clínica
Gordon LB, Norris W, Hamren S, et al. Circulação. 2023;147(23):1734-1744. doi:10.1161/CIRCULAÇÃOAHA.122.060002
Serum
Direct reprogramming of human smooth muscle and vascular endothelial cells reveals defects associated with aging and Hutchinson-Gilford progeria syndrome
Bersini S, Schulte R, Huang L, Tsai H, Hetzer MW. Elife. 2020 Sep 8;9:e54383. doi: 10.7554/eLife.54383. PMID: 32896271; PMCID: PMC7478891.
Buffy Coats
Quantificação de progerina farnesilada em células de pacientes com progeria de Hutchinson-Gilford por espectrometria de massa
Camafeita E, Jorge I, Rivera-Torres J, Andrés V, Vázquez J. Int J Mol Ciência. 2022;23(19):11733. Publicado em 3 de outubro de 2022. doi:10.3390/ijms231911733
Zokinvy (lonafarnib)
For publications listed by lonafarnib inclusion, Click here.
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