PRF Research Program

Related Publications

The Progeria Research Foundation (PRF) plays a vital role in promoting Progeria research by leading scientists around the world. Many publications by these scientists acknowledge PRF’s programs. By providing funding through grants; supplying material and data from the Cell and Tissue Bank, Medical and Research Database and the International Progeria Registry; publishing findings from clinical drug trials; and hosting scientific workshops where researchers can discuss their latest findings, PRF continues to drive the research that will eventually lead to a cure for Progeria.

Below is a list, by program, of the many publications that have acknowledged one or more of PRF’s research programs.

PRF Cell and Tissue Bank

Publications Utilizing Material from

The Progeria Research Foundation Cell and Tissue Bank

2025

Hutchinson-Gilford Progeria Syndrome

Gordon LB, Brown WT, Collins FS. 2003 Dec 12 [Updated 2025 Mar 13]. In: Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2025.

Circular RNA Telomerase Reverses Endothelial Senescence in Progeria

Qin W, Castillo KD, Li H, et al. Aging Cell. Published online February 23, 2025. doi:10.1111/acel.70021

Adenine base editing rescues pathogenic phenotypes in tissue engineered vascular model of Hutchinson-Gilford progeria syndrome

Abutaleb NO, Gao XD, Bedapudi A, et al. APL Bioeng. 2025;9(1):016110. Published 2025 Feb 26. doi:10.1063/5.0244026

2024

Aged-vascular niche hinders osteogenesis of mesenchymal stem cells through paracrine repression of Wnt-axis

Fleischhacker V, Milosic F, Bricelj M, et al. Aging Cell. 2024;23(6):e14139. doi:10.1111/acel.14139

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. 2024;180:108970. doi:10.1016/j.compbiomed.2024.108970

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

The NLRP3 inhibitor Dapansutrile improves the therapeutic action of lonafarnib on progeroid mice

Muela-Zarzuela I, Suarez-Rivero JM, Boy-Ruiz D, et al. Aging Cell. 2024;23(9):e14272. doi:10.1111/acel.14272

Progeria-based vascular model identifies networks associated with cardiovascular aging and disease

Ngubo M, Chen Z, McDonald D, et al. Aging Cell. 2024;23(7):e14150. doi:10.1111/acel.14150

Angiopoietin-2 reverses endothelial cell dysfunction in progeria vasculature

Vakili S, Izydore EK, Losert L, et al. Aging Cell. 2025;24(2):e14375. doi:10.1111/acel.14375

Progerin mRNA expression in non-HGPS patients is correlated with widespread shifts in transcript isoforms

Yu R, Xue H, Lin W, Collins FS, Mount SM, Cao K. NAR Genom Bioinform. 2024;6(3):lqae115. Published 2024 Aug 29. doi:10.1093/nargab/lqae115

Coaching ribosome biogenesis from the nuclear periphery

Zhuang Y, Guo X, Razorenova OV, Miles CE, Zhao W, Shi X. Preprint. bioRxiv. 2024;2024.06.21.597078. Published 2024 Jun 22. doi:10.1101/2024.06.21.597078

2023

Lonafarnib and everolimus reduce pathology in iPSC-derived tissue engineered blood vessel model of Hutchinson-Gilford Progeria Syndrome

Abutaleb NO, Atchison L, Choi L, et al. Sci Rep. 2023;13(1):5032. Published 2023 Mar 28. doi:10.1038/s41598-023-32035-3

Aging Model for Analyzing Drug-Induced Proarrhythmia Risks Using Cardiomyocytes Differentiated from Progeria-Patient-Derived Induced Pluripotent Stem Cells

Daily N, Elson J, Wakatsuki T. Int J Mol Sci. 2023;24(15):11959. Published 2023 Jul 26. doi:10.3390/ijms241511959

Ghrelin delays premature aging in Hutchinson-Gilford progeria syndrome

Ferreira-Marques M, Carvalho A, Franco AC, et al. Aging Cell. 2023;22(12):e13983. doi:10.1111/acel.13983

Perturbed actin cap as a new personalized biomarker in primary fibroblasts of Huntington’s disease patients

Gharaba S, Paz O, Feld L, et al. Front Cell Dev Biol. 2023;11:1013721. Published 2023 Jan 18. doi:10.3389/fcell.2023.1013721

Plasma Progerin in Patients With Hutchinson-Gilford Progeria Syndrome: Immunoassay Development and Clinical Evaluation

Gordon LB, Norris W, Hamren S, et al. Circulation. 2023;147(23):1734-1744. doi:10.1161/CIRCULATIONAHA.122.060002

Impact of Combined Baricitinib and FTI Treatment on Adipogenesis in Hutchinson-Gilford Progeria Syndrome and Other Lipodystrophic Laminopathies

Hartinger R, Lederer EM, Schena E, Lattanzi G, Djabali K. Cells. 2023;12(10):1350. Published 2023 May 9. doi:10.3390/cells12101350

Lonafarnib improves cardiovascular function and survival in a mouse model of Hutchinson-Gilford progeria syndrome

Murtada SI, Mikush N, Wang M, et al. Elife. 2023;12:e82728. Published 2023 Mar 17. doi:10.7554/eLife.82728

The farnesyl transferase inhibitor (FTI) lonafarnib improves nuclear morphology in ZMPSTE24-deficient fibroblasts from patients with the progeroid disorder MAD-B

Odinammadu KO, Shilagardi K, Tuminelli K, Judge DP, Gordon LB, Michaelis S. Nucleus. 2023;14(1):2288476. doi:10.1080/19491034.2023.2288476

Hutchinson-Gilford progeria patient-derived cardiomyocyte model of carrying LMNA gene variant c.1824 C > T

Perales S, Sigamani V, Rajasingh S, Czirok A, Rajasingh J. Cell Tissue Res. 2023;394(1):189-207. doi:10.1007/s00441-023-03813-2

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

Activation of endoplasmic reticulum stress in premature aging via the inner nuclear membrane protein SUN2

Vidak S, Serebryannyy LA, Pegoraro G, Misteli T. Cell Rep. 2023;42(5):112534. doi:10.1016/j.celrep.2023.112534

Unique progerin C-terminal peptide ameliorates Hutchinson-Gilford progeria syndrome phenotype by rescuing BUBR1

Zhang N, Hu Q, Sui T, et al. [published correction appears in Nat Aging. 2023 Jun;3(6):752. doi: 10.1038/s43587-023-00427-9]. Nat Aging. 2023;3(2):185-201. doi:10.1038/s43587-023-00361-w

Senotherapeutic peptide treatment reduces biological age and senescence burden in human skin models

Zonari A, Brace LE, Al-Katib K, et al. [published correction appears in NPJ Aging. 2024 Feb 15;10(1):14. doi: 10.1038/s41514-024-00140-w]. NPJ Aging. 2023;9(1):10. Published 2023 May 22. doi:10.1038/s41514-023-00109-1

2022

Quantification of Farnesylated Progerin in Hutchinson-Gilford Progeria Patient Cells by Mass Spectrometry

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

SerpinE1 drives a cell-autonomous pathogenic signaling in Hutchinson-Gilford progeria syndrome

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

Clonal hematopoiesis is not prevalent in Hutchinson-Gilford progeria syndrome

Díez-Díez M, Amorós-Pérez M, de la Barrera J, et al. Geroscience. 2023;45(2):1231-1236. doi:10.1007/s11357-022-00607-2

MG132 Induces Progerin Clearance and Improves Disease Phenotypes in HGPS-like Patients’ Cells

Harhouri K, Cau P, Casey F, et al. Cells. 2022;11(4):610. Published 2022 Feb 10. doi:10.3390/cells11040610

Anti-hsa-miR-59 alleviates premature senescence associated with Hutchinson-Gilford progeria syndrome in mice

Hu Q, Zhang N, Sui T, et al. EMBO J. 2023;42(1):e110937. doi:10.15252/embj.2022110937

Combined alteration of lamin and nuclear morphology influences the localization of the tumor-associated factor AKTIP

La Torre M, Merigliano C, Maccaroni K, et al. J Exp Clin Cancer Res. 2022;41(1):273. Published 2022 Sep 13. doi:10.1186/s13046-022-02480-5

Establishment and Characterization of hTERT Immortalized Hutchinson-Gilford Progeria Fibroblast Cell Lines

Lin H, Mensch J, Haschke M, et al. Cells. 2022;11(18):2784. Published 2022 Sep 6. doi:10.3390/cells11182784

Impaired LEF1 Activation Accelerates iPSC-Derived Keratinocytes Differentiation in Hutchinson-Gilford Progeria Syndrome

Mao X, Xiong ZM, Xue H, et al. Int J Mol Sci. 2022;23(10):5499. Published 2022 May 14. doi:10.3390/ijms23105499

Modelling premature cardiac aging with induced pluripotent stem cells from a hutchinson-gilford Progeria Syndrome patient

Monnerat G, Kasai-Brunswick TH, Asensi KD, et al. Front Physiol. 2022;13:1007418. Published 2022 Nov 23. doi:10.3389/fphys.2022.1007418

Gaussian curvature dilutes the nuclear lamina, favoring nuclear rupture, especially at high strain rate

Pfeifer CR, Tobin MP, Cho S, et al. Nucleus. 2022;13(1):129-143. doi:10.1080/19491034.2022.2045726

Transcriptional profiling of Hutchinson-Gilford Progeria syndrome fibroblasts reveals deficits in mesenchymal stem cell commitment to differentiation related to early events in endochondral ossification

San Martin R, Das P, Sanders JT, Hill AM, McCord RP. Elife. 2022;11:e81290. Published 2022 Dec 29. doi:10.7554/eLife.81290

Impact of MnTBAP and Baricitinib Treatment on Hutchinson-Gilford Progeria Fibroblasts

Vehns E, Arnold R, Djabali K. Pharmaceuticals (Basel). 2022;15(8):945. Published 2022 Jul 29. doi:10.3390/ph15080945

Achieving single nucleotide sensitivity in direct hybridization genome imaging

Wang Y, Cottle WT, Wang H, et al. Nat Commun. 2022;13(1):7776. Published 2022 Dec 15. doi:10.1038/s41467-022-35476-y

Vascular senescence in progeria: role of endothelial dysfunction

Xu Q, Mojiri A, Boulahouache L, Morales E, Walther BK, Cooke JP. Vascular senescence in progeria: role of endothelial dysfunction. Eur Heart J Open. 2022;2(4):oeac047. Published 2022 Jul 28. doi:10.1093/ehjopen/oeac047

2021

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 Sci. 2021;22(14):7474. Published 2021 Jul 12. doi:10.3390/ijms22147474

A targeted antisense therapeutic approach for Hutchinson-Gilford progeria syndrome

Erdos MR, Cabral WA, Tavarez UL, et al. Nat Med. 2021;27(3):536-545. doi:10.1038/s41591-021-01274-0

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;40(6):e107165. doi:10.15252/embj.2020107165

Mechanisms of angiogenic incompetence in Hutchinson-Gilford progeria via downregulation of endothelial NOS

Gete YG, Koblan LW, Mao X, et al. Aging Cell. 2021;20(7):e13388. doi:10.1111/acel.13388

Inhibition of the NLRP3 inflammasome improves lifespan in animal murine model of Hutchinson-Gilford Progeria

González-Dominguez A, Montañez R, Castejón-Vega B, et al. EMBO Mol Med. 2021;13(10):e14012. doi:10.15252/emmm.202114012

Progerinin, an optimized progerin-lamin A binding inhibitor, ameliorates premature senescence phenotypes of Hutchinson-Gilford progeria syndrome

Kang SM, Yoon MH, Ahn J, et al. [published correction appears in Commun Biol. 2021 Mar 2;4(1):297. doi: 10.1038/s42003-021-01843-6.]. Commun Biol. 2021;4(1):5. Published 2021 Jan 4. doi:10.1038/s42003-020-01540-w

In vivo base editing rescues Hutchinson-Gilford progeria syndrome in mice

Koblan LW, Erdos MR, Wilson C, et al. Nature. 2021;589(7843):608-614. doi:10.1038/s41586-020-03086-7

Isoprenylcysteine Carboxylmethyltransferase-Based Therapy for Hutchinson-Gilford Progeria Syndrome

Marcos-Ramiro B, Gil-Ordóñez A, Marín-Ramos NI, et al. ACS Cent Sci. 2021;7(8):1300-1310. doi:10.1021/acscentsci.0c01698

Telomerase therapy reverses vascular senescence and extends lifespan in progeria mice

Mojiri A, Walther BK, Jiang C, et al. Eur Heart J. 2021;42(42):4352-4369. doi:10.1093/eurheartj/ehab547

Impact of Progerin Expression on Adipogenesis in Hutchinson-Gilford Progeria Skin-Derived Precursor Cells

Najdi F, Krüger P, Djabali K. Cells. 2021;10(7):1598. Published 2021 Jun 25. doi:10.3390/cells10071598

Systematic screening identifies therapeutic antisense oligonucleotides for Hutchinson-Gilford progeria syndrome

Puttaraju M, Jackson M, Klein S, et al. [published correction appears in Nat Med. 2021 Jul;27(7):1309. doi: 10.1038/s41591-021-01415-5.]. Nat Med. 2021;27(3):526-535. doi:10.1038/s41591-021-01262-4

Nuclear Pore Complexes Cluster in Dysmorphic Nuclei of Normal and Progeria Cells during Replicative Senescence

Röhrl JM, Arnold R, Djabali K. Cells. 2021;10(1):153. Published 2021 Jan 14. doi:10.3390/cells10010153

2020

iPSC-Derived Endothelial Cells Affect Vascular Function in a Tissue-Engineered Blood Vessel Model of Hutchinson-Gilford Progeria Syndrome

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

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;9:e54383. Published 2020 Sep 8. doi:10.7554/eLife.54383

Phosphorylated Lamin A/C in the Nuclear Interior Binds Active Enhancers Associated with Abnormal Transcription in Progeria

Ikegami K, Secchia S, Almakki O, Lieb JD, Moskowitz IP. Dev Cell. 2020;52(6):699-713.e11. doi:10.1016/j.devcel.2020.02.011

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

Chromatin and Cytoskeletal Tethering Determine Nuclear Morphology in Progerin-Expressing Cells

Lionetti MC, Bonfanti S, Fumagalli MR, et al. Biophys J. 2020;118(9):2319-2332. doi:10.1016/j.bpj.2020.04.001

Peroxisomal abnormalities and catalase deficiency in Hutchinson-Gilford Progeria Syndrome

Mao X, Bharti P, Thaivalappil A, Cao K. Aging (Albany NY). 2020;12(6):5195-5208. doi:10.18632/aging.102941

SAMMY-seq reveals early alteration of heterochromatin and deregulation of bivalent genes in Hutchinson-Gilford Progeria Syndrome

Sebestyén E, Marullo F, Lucini F, et al. Nat Commun. 2020;11(1):6274. Published 2020 Dec 8. doi:10.1038/s41467-020-20048-9

PML2-mediated thread-like nuclear bodies mark late senescence in Hutchinson-Gilford progeria syndrome

Wang M, Wang L, Qian M, et al. Aging Cell. 2020;19(6):e13147. doi:10.1111/acel.13147

Targeting RAS-converting enzyme 1 overcomes senescence and improves progeria-like phenotypes of ZMPSTE24 deficiency

Yao H, Chen X, Kashif M, et al. Aging Cell. 2020;19(8):e13200. doi:10.1111/acel.13200

2019

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 U S A. 2019;116(9):3578-3583. doi:10.1073/pnas.1809683116

Transient introduction of human telomerase mRNA improves hallmarks of progeria cells

Li Y, Zhou G, Bruno IG, et al. Aging Cell. 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. Cells. 2019;8(10):1276. Published 2019 Oct 18. doi:10.3390/cells8101276

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

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

Analysis of somatic mutations identifies signs of selection during in vitro aging of primary dermal fibroblasts

Narisu N, Rothwell R, Vrtačnik P, et al. Aging Cell. 2019;18(6):e13010. doi:10.1111/acel.13010

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

2018

Smurf2 regulates stability and the autophagic-lysosomal turnover of lamin A and its disease-associated form progerin

Borroni AP, Emanuelli A, Shah PA, et al. Aging Cell. 2018;17(2):e12732. doi:10.1111/acel.12732

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. Nucleus. 2018;9(1):230-245. doi:10.1080/19491034.2018.1460185

Diminished Canonical β-Catenin Signaling During Osteoblast Differentiation Contributes to Osteopenia in Progeria

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 24;115(17):E4140. doi: 10.1073/pnas.1805694115.]. Proc Natl Acad Sci U S A. 2018;115(16):4206-4211. doi:10.1073/pnas.1802811115

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

Targeting the phospholipase A2 receptor ameliorates premature aging phenotypes

Griveau A, Wiel C, Le Calvé B, et al. Aging Cell. 2018;17(6):e12835. doi:10.1111/acel.12835

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. Aging (Albany NY). 2018;10(7):1758-1775. doi:10.18632/aging.101508

A Cell-Intrinsic Interferon-like Response Links Replication Stress to Cellular Aging Caused by Progerin

Kreienkamp R, Graziano S, Coll-Bonfill N, et al. Cell Rep. 2018;22(8):2006-2015. doi:10.1016/j.celrep.2018.01.090

Analyses of LMNA-negative juvenile progeroid cases confirms biallelic POLR3A mutations in Wiedemann-Rautenstrauch-like syndrome and expands the phenotypic spectrum of PYCR1 mutations

Lessel D, Ozel AB, Campbell SE, et al. Hum Genet. 2018;137(11-12):921-939. doi:10.1007/s00439-018-1957-1

Autophagic Removal of Farnesylated Carboxy-Terminal Lamin Peptides

Lu X, Djabali K. Cells. 2018;7(4):33. Published 2018 Apr 23. doi:10.3390/cells7040033

p53 isoforms regulate premature aging in human cells

von Muhlinen N, Horikawa I, Alam F, et al. Oncogene. 2018;37(18):2379-2393. doi:10.1038/s41388-017-0101-3

2017

SIRPA-Inhibited, Marrow-Derived Macrophages Engorge, Accumulate, and Differentiate in Antibody-Targeted Regression of Solid Tumors

Alvey CM, Spinler KR, Irianto J, et al. Curr Biol. 2017;27(14):2065-2077.e6. doi:10.1016/j.cub.2017.06.005

Nucleolar expansion and elevated protein translation in premature aging

Buchwalter A, Hetzer MW. Nat Commun. 2017;8(1):328. Published 2017 Aug 30. doi:10.1038/s41467-017-00322-z

Reprogramming progeria fibroblasts re-establishes a normal epigenetic landscape

Chen Z, Chang WY, Etheridge A, et al. Aging Cell. 2017;16(4):870-887. doi:10.1111/acel.12621

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;8(39):64809-64826. Published 2017 Jul 18. doi:10.18632/oncotarget.19363

Progerin sequestration of PCNA promotes replication fork collapse and mislocalization of XPA in laminopathy-related progeroid syndromes

Hilton BA, Liu J, Cartwright BM, et al. FASEB J. 2017;31(9):3882-3893. doi:10.1096/fj.201700014R

Cross-linked matrix rigidity and soluble retinoids synergize in nuclear lamina regulation of stem cell differentiation

Ivanovska IL, Swift J, Spinler K, Dingal D, Cho S, Discher DE. Mol Biol Cell. 2017;28(14):2010-2022. doi:10.1091/mbc.E17-01-0010

Identification of novel PDEδ interacting proteins

Küchler P, Zimmermann G, Winzker M, Janning P, Waldmann H, Ziegler S. Bioorg Med Chem. 2018;26(8):1426-1434. doi:10.1016/j.bmc.2017.08.033

Telomerase mRNA Reverses Senescence in Progeria Cells

Li Y, Zhou G, Bruno IG, Cooke JP. J Am Coll Cardiol. 2017;70(6):804-805. doi:10.1016/j.jacc.2017.06.017

Metformin alleviates ageing cellular phenotypes in Hutchinson-Gilford progeria syndrome dermal fibroblasts

Park SK, Shin OS. Exp Dermatol. 2017;26(10):889-895. doi:10.1111/exd.13323

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. 2018;131(3):jcs208462. Published 2018 Feb 8. doi:10.1242/jcs.208462

2016

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

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

Temsirolimus Partially Rescues the Hutchinson-Gilford Progeria Cellular Phenotype

Gabriel D, Gordon LB, Djabali K. PLoS One. 2016;11(12):e0168988. Published 2016 Dec 29. doi:10.1371/journal.pone.0168988

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

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, et al. Stem Cells. 2017;35(1):207-221. doi:10.1002/stem.2452

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. Aging (Albany NY). 2016;8(2):366-381. doi:10.18632/aging.100903

A mutation abolishing the ZMPSTE24 cleavage site in prelamin A causes a progeroid disorder

Wang Y, Lichter-Konecki U, Anyane-Yeboa K, et al. J Cell Sci. 2016;129(10):1975-1980. doi:10.1242/jcs.187302

Comparing lamin proteins post-translational relative stability using a 2A peptide-based system reveals elevated resistance of progerin to cellular degradation

Wu D, Yates PA, Zhang H, Cao K. Nucleus. 2016;7(6):585-596.

doi:10.1080/19491034.2016.1260803

Loss of H3K9me3 Correlates with ATM Activation and Histone H2AX Phosphorylation Deficiencies in Hutchinson-Gilford Progeria Syndrome

Zhang H, Sun L, Wang K, et al. PLoS One. 2016;11(12):e0167454. Published 2016 Dec 1. doi:10.1371/journal.pone.0167454

2015

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;11(32):6412-6418. doi:10.1039/c5sm00521c

Lamin A Is an Endogenous SIRT6 Activator and Promotes SIRT6-Mediated DNA Repair

Ghosh S, Liu B, Wang Y, Hao Q, Zhou Z. Cell Rep. 2015;13(7):1396-1406. doi:10.1016/j.celrep.2015.10.006

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;6(34):35324-35343. doi:10.18632/oncotarget.6117

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 Dev. 2015;29(19):2022-2036. doi:10.1101/gad.263939.115

Phenotype-Dependent Coexpression Gene Clusters: Application to Normal and Premature Ageing

Wang K, Das A, Xiong ZM, Cao K, Hannenhalli S. IEEE/ACM Trans Comput Biol Bioinform. 2015;12(1):30-39. doi:10.1109/TCBB.2014.2359446

Methylene blue alleviates nuclear and mitochondrial abnormalities in progeria

Xiong ZM, Choi JY, Wang K, et al. Aging Cell. 2016;15(2):279-290. doi:10.1111/acel.12434

2014

Sulforaphane enhances progerin clearance in Hutchinson-Gilford progeria fibroblasts

Gabriel D, Roedl D, Gordon LB, Djabali K. Aging Cell. 2015;14(1):78-91. doi:10.1111/acel.12300

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

2013

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. Nat Commun. 2013;4:1868. doi:10.1038/ncomms2885

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, et al. Genome Res. 2013;23(2):260-269. doi:10.1101/gr.138032.112

Higher-order unfolding of satellite heterochromatin is a consistent and early event in cell senescence

Swanson EC, Manning B, Zhang H, Lawrence JB. J Cell Biol. 2013;203(6):929-942. doi:10.1083/jcb.201306073

An inhibitory role of progerin in the gene induction network of adipocyte differentiation from iPS cells

Xiong ZM, LaDana C, Wu D, Cao K. Aging (Albany NY). 2013;5(4):288-303. doi:10.18632/aging.100550

2012

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. Aging (Albany NY). 2012;4(2):119-132. doi:10.18632/aging.100434

Progeria: translational insights from cell biology

Gordon LB, Cao K, Collins FS. J Cell Biol. 2012;199(1):9-13. doi:10.1083/jcb.201207072

A proteomic study of Hutchinson-Gilford progeria syndrome: Application of 2D-chromotography in a premature aging disease

Wang L, Yang W, Ju W, et al. Biochem Biophys Res Commun. 2012;417(4):1119-1126. doi:10.1016/j.bbrc.2011.12.056

Naïve adult stem cells from patients with Hutchinson-Gilford progeria syndrome express low levels of progerin in vivo

Wenzel V, Roedl D, Gabriel D, et al. Biol Open. 2012;1(6):516-526. doi:10.1242/bio.20121149

2011

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;187(3):675-683. doi:10.1534/genetics.110.124776

Hydroxyurea induces de novo copy number variants in human cells

Arlt MF, Ozdemir AC, Birkeland SR, Wilson TE, Glover TW. Proc Natl Acad Sci U S A. 2011;108(42):17360-17365. doi:10.1073/pnas.1109272108

Progerin and telomere dysfunction collaborate to trigger cellular senescence in normal human fibroblasts

Cao K, Blair CD, Faddah DA, et al. J Clin Invest. 2011;121(7):2833-2844. doi:10.1172/JCI43578

Rapamycin reverses cellular phenotypes and enhances mutant protein clearance in Hutchinson-Gilford progeria syndrome cells

Cao K, Graziotto JJ, Blair CD, et al. Sci Transl Med. 2011;3(89):89ra58. doi:10.1126/scitranslmed.3002346

Computational image analysis of nuclear morphology associated with various nuclear-specific aging disorders

Choi S, Wang W, Ribeiro AJ, et al. Nucleus. 2011;2(6):570-579. doi:10.4161/nucl.2.6.17798

CTP: phosphocholine cytidylyltransferase α (CCTα) and lamins alter nuclear membrane structure without affecting phosphatidylcholine synthesis

Gehrig K, Ridgway ND. Biochim Biophys Acta. 2011;1811(6):377-385. doi:10.1016/j.bbalip.2011.04.001

Age-dependent loss of MMP-3 in Hutchinson-Gilford progeria syndrome

Harten IA, Zahr RS, Lemire JM, et al. J Gerontol A Biol Sci Med Sci. 2011;66(11):1201-1207. doi:10.1093/gerona/glr137

Low and high expressing alleles of the LMNA gene: implications for laminopathy disease development

Rodríguez S, Eriksson M. PLoS One. 2011;6(9):e25472. doi:10.1371/journal.pone.0025472

Stem cell depletion in Hutchinson-Gilford progeria syndrome

Rosengardten Y, McKenna T, Grochová D, Eriksson M. Aging Cell. 2011;10(6):1011-1020. doi:10.1111/j.1474-9726.2011.00743.x

2010

Defective lamin A-Rb signaling in Hutchinson-Gilford Progeria Syndrome and reversal by farnesyltransferase inhibition

Marji J, O’Donoghue SI, McClintock D, et al. PLoS One. 2010;5(6):e11132. Published 2010 Jun 15. doi:10.1371/journal.pone.0011132

Cardiovascular pathology in Hutchinson-Gilford progeria: correlation with the vascular pathology of aging

Olive M, Harten I, Mitchell R, et al. Arterioscler Thromb Vasc Biol. 2010;30(11):2301-2309. doi:10.1161/ATVBAHA.110.209460

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;131(1):2-8. doi:10.1016/j.mad.2009.11.006

2009

Replication stress induces genome-wide copy number changes in human cells that resemble polymorphic and pathogenic variants

Arlt MF, Mulle JG, Schaibley VM, et al. Am J Hum Genet. 2009;84(3):339-350. doi:10.1016/j.ajhg.2009.01.024

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;11(10):1261-1267. doi:10.1038/ncb1971

2008

Perturbation of wild-type lamin A metabolism results in a progeroid phenotype

Candelario J, Sudhakar S, Navarro S, Reddy S, Comai L. Aging Cell. 2008;7(3):355-367. doi:10.1111/j.1474-9726.2008.00393.x

Lamin A-dependent misregulation of adult stem cells associated with accelerated ageing

Scaffidi P, Misteli T. Nat Cell Biol. 2008;10(4):452-459. doi:10.1038/ncb1708

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;7(3):383-393. doi:10.1111/j.1474-9726.2008.00382.x

2007

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 U S A. 2007;104(12):4949-4954. doi:10.1073/pnas.0611640104

Alterations in mitosis and cell cycle progression caused by a mutant lamin A known to accelerate human aging

Dechat T, Shimi T, Adam SA, et al. Proc Natl Acad Sci U S A. 2007;104(12):4955-4960. doi:10.1073/pnas.0700854104

Prelamin A processing and heterochromatin dynamics in laminopathies

Maraldi NM, Mattioli E, Lattanzi G, et al. Adv Enzyme Regul. 2007;47:154-167. doi:10.1016/j.advenzreg.2006.12.016

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, et al. PLoS One. 2007;2(12):e1269. Published 2007 Dec 5. doi:10.1371/journal.pone.0001269

Increased progerin expression associated with unusual LMNA mutations causes severe progeroid syndromes

Moulson CL, Fong LG, Gardner JM, et al. Hum Mutat. 2007;28(9):882-889. doi:10.1002/humu.20536

2006

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;127(8):660-669. doi:10.1016/j.mad.2006.03.004

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

2005

Rescue of heterochromatin organization in Hutchinson-Gilford progeria by drug treatment

Columbaro M, Capanni C, Mattioli E, et al. Cell Mol Life Sci. 2005;62(22):2669-2678. doi:10.1007/s00018-005-5318-6

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;14(20):2959-2969. doi:10.1093/hmg/ddi326

Genomic instability in laminopathy-based premature aging

Liu B, Wang J, Chan KM, et al. Nat Med. 2005;11(7):780-785. doi:10.1038/nm1266

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;338(2):855-861. doi:10.1016/j.bbrc.2005.10.020

2004

Accumulation of mutant lamin A causes progressive changes in nuclear architecture in Hutchinson-Gilford progeria syndrome

Goldman RD, Shumaker DK, Erdos MR, et al. Proc Natl Acad Sci U S A. 2004;101(24):8963-8968. doi:10.1073/pnas.0402943101

2003

Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome

Eriksson M, Brown WT, Gordon LB, et al. Nature. 2003;423(6937):293-298. doi:10.1038/nature01629

PRF International Medical and Research Database for Progeria

Publications Utilizing Data from

The Progeria Research Foundation International Medical and Research Database

2025

Hutchinson-Gilford Progeria Syndrome

2024

Intervention for critical aortic stenosis in Hutchinson-Gilford progeria syndrome

Gordon LB, Basso S, Maestranzi J, et al. Front Cardiovasc Med. 2024;11:1356010. Published 2024 Apr 25. doi:10.3389/fcvm.2024.1356010

2023

Plasma Progerin in Patients With Hutchinson-Gilford Progeria Syndrome: Immunoassay Development and Clinical Evaluation

Gordon LB, Norris W, Hamren S, et al. Circulation. 2023;147(23):1734-1744. doi:10.1161/CIRCULATIONAHA.122.060002

The farnesyl transferase inhibitor (FTI) lonafarnib improves nuclear morphology in ZMPSTE24-deficient fibroblasts from patients with the progeroid disorder MAD-B

Odinammadu KO, Shilagardi K, Tuminelli K, Judge DP, Gordon LB, Michaelis S. Nucleus. 2023;14(1):2288476. doi:10.1080/19491034.2023.2288476

2022

Clonal hematopoiesis is not prevalent in Hutchinson-Gilford progeria syndrome

Díez-Díez M, Amorós-Pérez M, de la Barrera J, et al. Geroscience. 2023;45(2):1231-1236. doi:10.1007/s11357-022-00607-2

Sample size determination for the association between longitudinal and time-to-event outcomes using the joint modeling time-dependent slopes parameterization

LeClair J, Massaro J, Sverdlov O, Gordon L, Tripodis Y. Stat Med. 2022;41(30):5810-5829. doi:10.1002/sim.9595

2021

A novel homozygous synonymous variant further expands the phenotypic spectrum of POLR3A-related pathologies

Lessel D, Rading K, Campbell SE, et al. Am J Med Genet A. 2022;188(1):216-223. doi:10.1002/ajmg.a.62525

2018

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 24;115(17):E4140. doi: 10.1073/pnas.1805694115]. Proc Natl Acad Sci U S A. 2018;115(16):4206-4211. doi:10.1073/pnas.1802811115

Association of Lonafarnib Treatment vs No Treatment With Mortality Rate in Patients With Hutchinson-Gilford Progeria Syndrome

Gordon LB, Shappell H, Massaro J, et al. JAMA. 2018;319(16):1687-1695. doi:10.1001/jama.2018.3264

Analyses of LMNA-negative juvenile progeroid cases confirms biallelic POLR3A mutations in Wiedemann-Rautenstrauch-like syndrome and expands the phenotypic spectrum of PYCR1 mutations

Lessel D, Ozel AB, Campbell SE, et al. Hum Genet. 2018;137(11-12):921-939. doi:10.1007/s00439-018-1957-1

2017

Ophthalmologic Features of Progeria

Mantagos IS, Kleinman ME, Kieran MW, Gordon LB. Am J Ophthalmol. 2017;182:126-132. doi:10.1016/j.ajo.2017.07.020

2016

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

Clinical Trial of the Protein Farnesylation Inhibitors Lonafarnib, Pravastatin, and Zoledronic Acid in Children With Hutchinson-Gilford Progeria Syndrome

Gordon LB, Kleinman ME, Massaro J, et al. Circulation. 2016;134(2):114-125. doi:10.1161/CIRCULATIONAHA.116.022188

Cardiac electrical defects in progeroid mice and Hutchinson-Gilford progeria syndrome patients with nuclear lamina alterations

Rivera-Torres J, Calvo CJ, Llach A, et al. Proc Natl Acad Sci U S A. 2016;113(46):E7250-E7259. doi:10.1073/pnas.1603754113

2015

Hutchinson-Gilford progeria syndrome

Ullrich NJ, Gordon LB. Handb Clin Neurol. 2015;132:249-264. doi:10.1016/B978-0-444-62702-5.00018-4

2014

Impact of farnesylation inhibitors on survival in Hutchinson-Gilford progeria syndrome

Gordon LB, Massaro J, D’Agostino RB Sr, et al. Circulation. 2014;130(1):27-34. doi:10.1161/CIRCULATIONAHA.113.008285

Initial cutaneous manifestations of Hutchinson-Gilford progeria syndrome

Rork JF, Huang JT, Gordon LB, Kleinman M, Kieran MW, Liang MG. Pediatr Dermatol. 2014;31(2):196-202. doi:10.1111/pde.12284

2013

Imaging characteristics of cerebrovascular arteriopathy and stroke in Hutchinson-Gilford progeria syndrome

Silvera VM, Gordon LB, Orbach DB, Campbell SE, Machan JT, Ullrich NJ. AJNR Am J Neuroradiol. 2013;34(5):1091-1097. doi:10.3174/ajnr.A3341

Neurologic features of Hutchinson-Gilford progeria syndrome after lonafarnib treatment

Ullrich NJ, Kieran MW, Miller DT, et al. Neurology. 2013;81(5):427-430. doi:10.1212/WNL.0b013e31829d85c0

2012

Mechanisms of premature vascular aging in children with Hutchinson-Gilford progeria syndrome

Gerhard-Herman M, Smoot LB, Wake N, et al. Hypertension. 2012;59(1):92-97. doi:10.1161/HYPERTENSIONAHA.111.180919

Clinical trial of a farnesyltransferase inhibitor in children with Hutchinson-Gilford progeria syndrome

Gordon LB, Kleinman ME, Miller DT, et al. Proc Natl Acad Sci U S A. 2012;109(41):16666-16671. doi:10.1073/pnas.1202529109

Craniofacial abnormalities in Hutchinson-Gilford progeria syndrome

Ullrich NJ, Silvera VM, Campbell SE, Gordon LB. AJNR Am J Neuroradiol. 2012;33(8):1512-1518. doi:10.3174/ajnr.A3088

A prospective study of radiographic manifestations in Hutchinson-Gilford progeria syndrome

Cleveland RH, Gordon LB, Kleinman ME, et al. Pediatr Radiol. 2012;42(9):1089-1098. doi:10.1007/s00247-012-2423-1

Progeria: translational insights from cell biology

Gordon LB, Cao K, Collins FS. J Cell Biol. 2012;199(1):9-13. doi:10.1083/jcb.201207072

2011

Hutchinson-Gilford progeria is a skeletal dysplasia

Gordon CM, Gordon LB, Snyder BD, et al. J Bone Miner Res. 2011;26(7):1670-1679. doi:10.1002/jbmr.392

Low and high expressing alleles of the LMNA gene: implications for laminopathy disease development

Rodríguez S, Eriksson M. PLoS One. 2011;6(9):e25472. doi:10.1371/journal.pone.0025472

2010

Cardiovascular pathology in Hutchinson-Gilford progeria: correlation with the vascular pathology of aging

Olive M, Harten I, Mitchell R, et al. Arterioscler Thromb Vasc Biol. 2010;30(11):2301-2309. doi:10.1161/ATVBAHA.110.209460

2008

Reversible phenotype in a mouse model of Hutchinson-Gilford progeria syndrome

Sagelius H, Rosengardten Y, Schmidt E, Sonnabend C, Rozell B, Eriksson M. J Med Genet. 2008;45(12):794-801. doi:10.1136/jmg.2008.060772

Targeted transgenic expression of the mutation causing Hutchinson-Gilford progeria syndrome leads to proliferative and degenerative epidermal disease

Sagelius H, Rosengardten Y, Hanif M, et al. J Cell Sci. 2008;121(Pt 7):969-978. doi:10.1242/jcs.022913

Phenotype and course of Hutchinson-Gilford progeria syndrome

Merideth MA, Gordon LB, Clauss S, et al. N Engl J Med. 2008;358(6):592-604. doi:10.1056/NEJMoa0706898

2007

Disease progression in Hutchinson-Gilford progeria syndrome: impact on growth and development

Gordon LB, McCarten KM, Giobbie-Hurder A, et al. Pediatrics. 2007;120(4):824-833. doi:10.1542/peds.2007-1357

New approaches to progeria

Kieran MW, Gordon L, Kleinman M. [published correction appears in Pediatrics. 2007 Dec;120(6):1405]. Pediatrics. 2007;120(4):834-841. doi:10.1542/peds.2007-1356

2005

Reduced adiponectin and HDL cholesterol without elevated C-reactive protein: clues to the biology of premature atherosclerosis in Hutchinson-Gilford Progeria Syndrome

Gordon LB, Harten IA, Patti ME, Lichtenstein AH. J Pediatr. 2005;146(3):336-341. doi:10.1016/j.jpeds.2004.10.064

Inhibiting farnesylation of progerin prevents the characteristic nuclear blebbing of Hutchinson-Gilford progeria syndrome

Capell BC, Erdos MR, Madigan JP, et al. Proc Natl Acad Sci U S A. 2005;102(36):12879-12884. doi:10.1073/pnas.0506001102

2004

Accumulation of mutant lamin A causes progressive changes in nuclear architecture in Hutchinson-Gilford progeria syndrome

Goldman RD, Shumaker DK, Erdos MR, et al. Proc Natl Acad Sci U S A. 2004;101(24):8963-8968. doi:10.1073/pnas.0402943101

PRF Clinical Drug Trials

Publications Reporting Results from Clinical Trials

Publications Utilizing Data from

The Progeria Research Foundation International Progeria Registry

2025

Hutchinson-Gilford Progeria Syndrome

2024

Epidemiological characteristics of patients with Hutchinson-Gilford progeria syndrome and progeroid laminopathies in China

Wang J, Yu Q, Tang X, et al. Pediatr Res. 2024;95(5):1356-1362. doi:10.1038/s41390-023-02981-9

PRF Scientific Workshops

Publications Reporting Results from Scientific Workshops

Publications Acknowledging Grant Funding from

The Progeria Research Foundation

2025

Hutchinson-Gilford Progeria Syndrome

Restoring neuropetide Y levels in the hypothalamus ameliorates premature aging phenotype in mice

Ferreira-Marques M, Carmo-Silva S, Pereira J, et al. Geroscience. Published online February 27, 2025. doi:10.1007/s11357-025-01574-0

Longitudinal Changes in Myocardial Deformation in Hutchinson-Gilford Progeria Syndrome

Olsen FJ, Biering-Sørensen T, Lunze FI, et al. Circ Cardiovasc Imaging. 2025;18(2):e017544. doi:10.1161/CIRCIMAGING.124.017544

2024

Intervention for critical aortic stenosis in Hutchinson-Gilford progeria syndrome

Gordon LB, Basso S, Maestranzi J, et al. Front Cardiovasc Med. 2024;11:1356010. Published 2024 Apr 25. doi:10.3389/fcvm.2024.1356010

Inflammation and Fibrosis in Progeria: Organ-Specific Responses in an HGPS Mouse Model

Krüger P, Schroll M, Fenzl F, et al. Int J Mol Sci. 2024;25(17):9323. Published 2024 Aug 28. doi:10.3390/ijms25179323

The NLRP3 inhibitor Dapansutrile improves the therapeutic action of lonafarnib on progeroid mice

Muela-Zarzuela I, Suarez-Rivero JM, Boy-Ruiz D, et al. Aging Cell. 2024;23(9):e14272. doi:10.1111/acel.14272

Abnormal Myocardial Deformation Despite Normal Ejection Fraction in Hutchinson-Gilford Progeria Syndrome

Olsen FJ, Biering-Sørensen T, Lunze F, et al. J Am Heart Assoc. 2024;13(3):e031470. doi:10.1161/JAHA.123.031470

Vascular Calcification: A Passive Process That Requires Active Inhibition

Villa-Bellosta R. Biology (Basel). 2024;13(2):111. Published 2024 Feb 9. doi:10.3390/biology13020111

Peripheral artery disease and outcomes: how can we improve risk prediction?

Yanamandala M, Goudot G, Gerhard-Herman MD. Eur Heart J. 2024;45(19):1750-1752. doi:10.1093/eurheartj/ehae154

2023

Ghrelin delays premature aging in Hutchinson-Gilford progeria syndrome

Ferreira-Marques M, Carvalho A, Franco AC, et al. Aging Cell. 2023;22(12):e13983. doi:10.1111/acel.13983

Plasma Progerin in Patients With Hutchinson-Gilford Progeria Syndrome: Immunoassay Development and Clinical Evaluation

Gordon LB, Norris W, Hamren S, et al. Circulation. 2023;147(23):1734-1744. doi:10.1161/CIRCULATIONAHA.122.060002

Impact of Combined Baricitinib and FTI Treatment on Adipogenesis in Hutchinson-Gilford Progeria Syndrome and Other Lipodystrophic Laminopathies

Hartinger R, Lederer EM, Schena E, Lattanzi G, Djabali K. Cells. 2023;12(10):1350. Published 2023 May 9. doi:10.3390/cells12101350

Turnover and replication analysis by isotope labeling (TRAIL) reveals the influence of tissue context on protein and organelle lifetimes

Hasper J, Welle K, Hryhorenko J, Ghaemmaghami S, Buchwalter A. Mol Syst Biol. 2023;19(4):e11393. doi:10.15252/msb.202211393

Long lifetime and tissue-specific accumulation of lamin A/C in Hutchinson-Gilford progeria syndrome

Hasper J, Welle K, Swovick K, Hryhorenko J, Ghaemmaghami S, Buchwalter A. J Cell Biol. 2024;223(1):e202307049. doi:10.1083/jcb.202307049

Progerinin, an Inhibitor of Progerin, Alleviates Cardiac Abnormalities in a Model Mouse of Hutchinson-Gilford Progeria Syndrome

Kang SM, Seo S, Song EJ, et al. Cells. 2023;12(9):1232. Published 2023 Apr 24. doi:10.3390/cells12091232

A new fluorescent probe for the visualization of progerin

Macicior J, Fernández D, Ortega-Gutiérrez S. Bioorg Chem. 2024;142:106967. doi:10.1016/j.bioorg.2023.106967

Baseline Range of Motion, Strength, Motor Function, and Participation in Youth with Hutchinson-Gilford Progeria Syndrome

Malloy J, Berry E, Correia A, et al. Phys Occup Ther Pediatr. 2023;43(4):482-501. doi:10.1080/01942638.2022.2158054

The farnesyl transferase inhibitor (FTI) lonafarnib improves nuclear morphology in ZMPSTE24-deficient fibroblasts from patients with the progeroid disorder MAD-B

Odinammadu KO, Shilagardi K, Tuminelli K, Judge DP, Gordon LB, Michaelis S. Nucleus. 2023;14(1):2288476. doi:10.1080/19491034.2023.2288476

Progression of Cardiac Abnormalities in Hutchinson-Gilford Progeria Syndrome: A Prospective Longitudinal Study

Olsen FJ, Gordon LB, Smoot L, et al. Circulation. 2023;147(23):1782-1784. doi:10.1161/CIRCULATIONAHA.123.064370

2022

Progeria: a perspective on potential drug targets and treatment strategies

Benedicto I, Chen X, Bergo MO, Andrés V. Expert Opin Ther Targets. 2022;26(5):393-399. doi:10.1080/14728222.2022.2078699

Quantification of Farnesylated Progerin in Hutchinson-Gilford Progeria Patient Cells by Mass Spectrometry

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

Clonal hematopoiesis is not prevalent in Hutchinson-Gilford progeria syndrome

Díez-Díez M, Amorós-Pérez M, de la Barrera J, et al. Geroscience. 2023;45(2):1231-1236. doi:10.1007/s11357-022-00607-2

Endothelial and systemic upregulation of miR-34a-5p fine-tunes senescence in progeria

Manakanatas C, Ghadge SK, Agic A, et al. Aging (Albany NY). 2022;14(1):195-224. doi:10.18632/aging.203820

2021

Molecular and Cellular Mechanisms Driving Cardiovascular Disease in Hutchinson-Gilford Progeria Syndrome: Lessons Learned from Animal Models

Benedicto I, Dorado B, Andrés V. Cells. 2021;10(5):1157. Published 2021 May 11. doi:10.3390/cells10051157

A small-molecule ICMT inhibitor delays senescence of Hutchinson-Gilford progeria syndrome cells

Chen X, Yao H, Kashif M, et al. Elife. 2021;10:e63284. Published 2021 Feb 2. doi:10.7554/eLife.63284

A targeted antisense therapeutic approach for Hutchinson-Gilford progeria syndrome

Erdos MR, Cabral WA, Tavarez UL, et al. Nat Med. 2021;27(3):536-545. doi:10.1038/s41591-021-01274-0

Inhibition of the NLRP3 inflammasome improves lifespan in animal murine model of Hutchinson-Gilford Progeria

González-Dominguez A, Montañez R, Castejón-Vega B, et al. EMBO Mol Med. 2021;13(10):e14012. doi:10.15252/emmm.202114012

Progerinin, an optimized progerin-lamin A binding inhibitor, ameliorates premature senescence phenotypes of Hutchinson-Gilford progeria syndrome

Kang SM, Yoon MH, Ahn J, et al. [published correction appears in Commun Biol. 2021 Mar 2;4(1):297. doi: 10.1038/s42003-021-01843-6]. Commun Biol. 2021;4(1):5. Published 2021 Jan 4. doi:10.1038/s42003-020-01540-w

In vivo base editing rescues Hutchinson-Gilford progeria syndrome in mice

Koblan LW, Erdos MR, Wilson C, et al. Nature. 2021;589(7843):608-614. doi:10.1038/s41586-020-03086-7

A novel homozygous synonymous variant further expands the phenotypic spectrum of POLR3A-related pathologies

Lessel D, Rading K, Campbell SE, et al. Am J Med Genet A. 2022;188(1):216-223. doi:10.1002/ajmg.a.62525

Paclitaxel mitigates structural alterations and cardiac conduction system defects in a mouse model of Hutchinson-Gilford progeria syndrome

Macías Á, Díaz-Larrosa JJ, Blanco Y, et al. Cardiovasc Res. 2022;118(2):503-516. doi:10.1093/cvr/cvab055

Small-Molecule Therapeutic Perspectives for the Treatment of Progeria

Macicior J, Marcos-Ramiro B, Ortega-Gutiérrez S. Int J Mol Sci. 2021;22(13):7190. Published 2021 Jul 3. doi:10.3390/ijms22137190

Isoprenylcysteine Carboxylmethyltransferase-Based Therapy for Hutchinson-Gilford Progeria Syndrome

Marcos-Ramiro B, Gil-Ordóñez A, Marín-Ramos NI, et al. ACS Cent Sci. 2021;7(8):1300-1310. doi:10.1021/acscentsci.0c01698

Systematic screening identifies therapeutic antisense oligonucleotides for Hutchinson-Gilford progeria syndrome

Puttaraju M, Jackson M, Klein S, et al. [published correction appears in Nat Med. 2021 Jul;27(7):1309. doi: 10.1038/s41591-021-01415-5]. Nat Med. 2021;27(3):526-535. doi:10.1038/s41591-021-01262-4

Lifelong restriction of dietary branched-chain amino acids has sex-specific benefits for frailty and lifespan in mice

Richardson NE, Konon EN, Schuster HS, et al. Nat Aging. 2021;1(1):73-86. doi:10.1038/s43587-020-00006-2

Interleukin-6 neutralization ameliorates symptoms in prematurely aged mice

Squarzoni S, Schena E, Sabatelli P, et al. Aging Cell. 2021;20(1):e13285. doi:10.1111/acel.13285

Decreased vascular smooth muscle contractility in Hutchinson-Gilford Progeria Syndrome linked to defective smooth muscle myosin heavy chain expression

von Kleeck R, Castagnino P, Roberts E, Talwar S, Ferrari G, Assoian RK. Sci Rep. 2021;11(1):10625. Published 2021 May 19. doi:10.1038/s41598-021-90119-4

2020

Neuropeptide Y Enhances Progerin Clearance and Ameliorates the Senescent Phenotype of Human Hutchinson-Gilford Progeria Syndrome Cells

Aveleira CA, Ferreira-Marques M, Cortes L, et al. J Gerontol A Biol Sci Med Sci. 2020;75(6):1073-1078. doi:10.1093/gerona/glz280

Interplay of the nuclear envelope with chromatin in physiology and pathology

Burla R, La Torre M, Maccaroni K, Verni F, Giunta S, Saggio I. Nucleus. 2020;11(1):205-218. doi:10.1080/19491034.2020.1806661

Lamin A involvement in ageing processes

Cenni V, Capanni C, Mattioli E, et al. Ageing Res Rev. 2020;62:101073. doi:10.1016/j.arr.2020.101073

Evaluation of musculoskeletal phenotype of the G608G progeria mouse model with lonafarnib, pravastatin, and zoledronic acid as treatment groups

Cubria MB, Suarez S, Masoudi A, et al. Proc Natl Acad Sci U S A. 2020;117(22):12029-12040. doi:10.1073/pnas.1906713117

Identification of common cardiometabolic alterations and deregulated pathways in mouse and pig models of aging

Fanjul V, Jorge I, Camafeita E, et al. Aging Cell. 2020;19(9):e13203. doi:10.1111/acel.13203

Phosphorylated Lamin A/C in the Nuclear Interior Binds Active Enhancers Associated with Abnormal Transcription in Progeria

Ikegami K, Secchia S, Almakki O, Lieb JD, Moskowitz IP. Dev Cell. 2020;52(6):699-713.e11. doi:10.1016/j.devcel.2020.02.011

Cytoskeleton stiffness regulates cellular senescence and innate immune response in Hutchinson-Gilford Progeria Syndrome

Mu X, Tseng C, Hambright WS, et al. Aging Cell. 2020;19(8):e13152. doi:10.1111/acel.13152

First progeria monkey model generated using base editor

Reddy P, Shao Y, Hernandez-Benitez R, Nuñez Delicado E, Izpisua Belmonte JC. Protein Cell. 2020;11(12):862-865. doi:10.1007/s13238-020-00765-z

Skeletal maturation and long-bone growth patterns of patients with progeria: a retrospective study

Tsai A, Johnston PR, Gordon LB, Walters M, Kleinman M, Laor T. Lancet Child Adolesc Health. 2020;4(4):281-289. doi:10.1016/S2352-4642(20)30023-7

New treatments for progeria

Villa-Bellosta R. Aging (Albany NY). 2019;11(24):11801-11802. doi:10.18632/aging.102626

Dietary magnesium supplementation improves lifespan in a mouse model of progeria

Villa-Bellosta R. EMBO Mol Med. 2020;12(10):e12423. doi:10.15252/emmm.202012423

Redox theory in progeria

Villa-Bellosta R. Aging (Albany NY). 2020;12(21):20934-20935. doi:10.18632/aging.104211

2019

Healthspan and lifespan extension by fecal microbiota transplantation into progeroid mice

Bárcena C, Valdés-Mas R, Mayoral P, et al. Nat Med. 2019;25(8):1234-1242. doi:10.1038/s41591-019-0504-5

Single-dose CRISPR-Cas9 therapy extends lifespan of mice with Hutchinson-Gilford progeria syndrome

Beyret E, Liao HK, Yamamoto M, et al. Nat Med. 2019;25(3):419-422. doi:10.1038/s41591-019-0343-4

Generation and characterization of a novel knockin minipig model of Hutchinson-Gilford progeria syndrome

Dorado B, Pløen GG, Barettino A, et al. Cell Discov. 2019;5:16. Published 2019 Mar 19. doi:10.1038/s41421-019-0084-z

Extraskeletal Calcifications in Hutchinson-Gilford Progeria Syndrome

Gordon CM, Cleveland RH, Baltrusaitis K, et al. Bone. 2019;125:103-111. doi:10.1016/j.bone.2019.05.008

Vascular smooth muscle cell loss underpins the accelerated atherosclerosis in Hutchinson-Gilford progeria syndrome

Hamczyk MR, Andrés V. Nucleus. 2019;10(1):28-34. doi:10.1080/19491034.2019.1589359

Progerin accelerates atherosclerosis by inducing endoplasmic reticulum stress in vascular smooth muscle cells

Hamczyk MR, Villa-Bellosta R, Quesada V, et al. EMBO Mol Med. 2019;11(4):e9736. doi:10.15252/emmm.201809736

Remodeling of Bone Marrow Hematopoietic Stem Cell Niches Promotes Myeloid Cell Expansion during Premature or Physiological Aging

Ho YH, Del Toro R, Rivera-Torres J, et al. Cell Stem Cell. 2019;25(3):407-418.e6. doi:10.1016/j.stem.2019.06.007

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

Development of a CRISPR/Cas9-based therapy for Hutchinson-Gilford progeria syndrome

Santiago-Fernández O, Osorio FG, Quesada V, et al. Nat Med. 2019;25(3):423-426. doi:10.1038/s41591-018-0338-6

Physicochemical mechanotransduction alters nuclear shape and mechanics via heterochromatin formation

Stephens AD, Liu PZ, Kandula V, et al. Mol Biol Cell. 2019;30(17):2320-2330. doi:10.1091/mbc.E19-05-0286

ATP-based therapy prevents vascular calcification and extends longevity in a mouse model of Hutchinson-Gilford progeria syndrome

Villa-Bellosta R. Proc Natl Acad Sci U S A. 2019;116(47):23698-23704. doi:10.1073/pnas.1910972116

Impact of acetate- or citrate-acidified bicarbonate dialysate on ex vivo aorta wall calcification

Villa-Bellosta R, Hernández-Martínez E, Mérida-Herrero E, González-Parra E. Sci Rep. 2019;9(1):11374. Published 2019 Aug 6. doi:10.1038/s41598-019-47934-7

Questioning the Safety of Calcidiol in Hemodialysis Patients

Villa-Bellosta R, Mahillo-Fernández I, Ortíz A, González-Parra E. Nutrients. 2019;11(5):959. Published 2019 Apr 26. doi:10.3390/nu11050959

2018

Methionine Restriction Extends Lifespan in Progeroid Mice and Alters Lipid and Bile Acid Metabolism

Bárcena C, Quirós PM, Durand S, et al. Cell Rep. 2018;24(9):2392-2403. doi:10.1016/j.celrep.2018.07.089

Microbiome at sites of gingival recession in children with Hutchinson-Gilford progeria syndrome

Bassir SH, Chase I, Paster BJ, et al. J Periodontol. 2018;89(6):635-644. doi:10.1002/JPER.17-0351

Genomic instability and DNA replication defects in progeroid syndromes

Burla R, La Torre M, Merigliano C, Vernì F, Saggio I. Nucleus. 2018;9(1):368-379. doi:10.1080/19491034.2018.1476793

Mouse Models to Disentangle the Hallmarks of Human Aging

Folgueras AR, Freitas-Rodríguez S, Velasco G, López-Otín C. Circ Res. 2018;123(7):905-924. doi:10.1161/CIRCRESAHA.118.312204

Survey of plasma proteins in children with progeria pre-therapy and on-therapy with lonafarnib

Gordon LB, Campbell SE, Massaro JM, et al. Pediatr Res. 2018;83(5):982-992. doi:10.1038/pr.2018.9

Association of Lonafarnib Treatment vs No Treatment With Mortality Rate in Patients With Hutchinson-Gilford Progeria Syndrome

Gordon LB, Shappell H, Massaro J, et al. JAMA. 2018;319(16):1687-1695. doi:10.1001/jama.2018.3264

Pubertal Progression in Female Adolescents with Progeria

Greer MM, Kleinman ME, Gordon LB, et al. J Pediatr Adolesc Gynecol. 2018;31(3):238-241. doi:10.1016/j.jpag.2017.12.005

Accelerated atherosclerosis in HGPS

Hamczyk MR, Andrés V. Aging (Albany NY). 2018;10(10):2555-2556. doi:10.18632/aging.101608

Vascular Smooth Muscle-Specific Progerin Expression Accelerates Atherosclerosis and Death in a Mouse Model of Hutchinson-Gilford Progeria Syndrome

Hamczyk MR, Villa-Bellosta R, Gonzalo P, et al. Circulation. 2018;138(3):266-282. doi:10.1161/CIRCULATIONAHA.117.030856

Analyses of LMNA-negative juvenile progeroid cases confirms biallelic POLR3A mutations in Wiedemann-Rautenstrauch-like syndrome and expands the phenotypic spectrum of PYCR1 mutations

Lessel D, Ozel AB, Campbell SE, et al. Hum Genet. 2018;137(11-12):921-939. doi:10.1007/s00439-018-1957-1

Endothelial progerin expression causes cardiovascular pathology through an impaired mechanoresponse

Osmanagic-Myers S, Kiss A, Manakanatas C, et al. J Clin Invest. 2019;129(2):531-545. doi:10.1172/JCI121297

Cardiac Abnormalities in Patients With Hutchinson-Gilford Progeria Syndrome

Prakash A, Gordon LB, Kleinman ME, et al. JAMA Cardiol. 2018;3(4):326-334. doi:10.1001/jamacardio.2017.5235

OGT (O-GlcNAc Transferase) Selectively Modifies Multiple Residues Unique to Lamin A

Simon DN, Wriston A, Fan Q, et al. Cells. 2018;7(5):44. Published 2018 May 17. doi:10.3390/cells7050044

Nuclear import pathway key to rescuing dominant progerin phenotypes

Wilson KL. Sci Signal. 2018;11(537):eaat9448. Published 2018 Jul 3. doi:10.1126/scisignal.aat9448

Differential stem cell aging kinetics in Hutchinson-Gilford progeria syndrome and Werner syndrome

Wu Z, Zhang W, Song M, et al. Protein Cell. 2018;9(4):333-350. doi:10.1007/s13238-018-0517-8

2017

Functional relevance of miRNAs in premature ageing

Caravia XM, Roiz-Valle D, Morán-Álvarez A, López-Otín C. Mech Ageing Dev. 2017;168:10-19. doi:10.1016/j.mad.2017.05.003

Reprogramming progeria fibroblasts re-establishes a normal epigenetic landscape

Chen Z, Chang WY, Etheridge A, et al. Aging Cell. 2017;16(4):870-887. doi:10.1111/acel.12621

A-type lamins and cardiovascular disease in premature aging syndromes

Dorado B, Andrés V. Curr Opin Cell Biol. 2017;46:17-25. doi:10.1016/j.ceb.2016.12.005

LMNA Sequences of 60,706 Unrelated Individuals Reveal 132 Novel Missense Variants in A-Type Lamins and Suggest a Link between Variant p.G602S and Type 2 Diabetes – PubMed (nih.gov)

Florwick A, Dharmaraj T, Jurgens J, Valle D, Wilson KL. Front Genet. 2017;8:79. Published 2017 Jun 15. doi:10.3389/fgene.2017.00079

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;8(39):64809-64826. Published 2017 Jul 18. doi:10.18632/oncotarget.19363

Aging in the Cardiovascular System: Lessons from Hutchinson-Gilford Progeria Syndrome

Hamczyk MR, del Campo L, Andrés V. Annu Rev Physiol. 2018;80:27-48. doi:10.1146/annurev-physiol-021317-121454

Progerin sequestration of PCNA promotes replication fork collapse and mislocalization of XPA in laminopathy-related progeroid syndromes

Hilton BA, Liu J, Cartwright BM, et al. FASEB J. 2017;31(9):3882-3893. doi:10.1096/fj.201700014R

Mice with reduced expression of the telomere-associated protein Ft1 develop p53-sensitive progeroid traits

La Torre M, Merigliano C, Burla R, et al. Aging Cell. 2018;17(4):e12730. doi:10.1111/acel.12730

Telomerase mRNA Reverses Senescence in Progeria Cells

Li Y, Zhou G, Bruno IG, Cooke JP. J Am Coll Cardiol. 2017;70(6):804-805. doi:10.1016/j.jacc.2017.06.017

Ophthalmologic Features of Progeria

Mantagos IS, Kleinman ME, Kieran MW, Gordon LB. Am J Ophthalmol. 2017;182:126-132. doi:10.1016/j.ajo.2017.07.020

Protein sequestration at the nuclear periphery as a potential regulatory mechanism in premature aging

Serebryannyy L, Misteli T. J Cell Biol. 2018;217(1):21-37. doi:10.1083/jcb.201706061

Chromatin and lamin A determine two different mechanical response regimes of the cell nucleus

Stephens AD, Banigan EJ, Adam SA, Goldman RD, Marko JF. Mol Biol Cell. 2017;28(14):1984-1996. doi:10.1091/mbc.E16-09-0653

Chromatin histone modifications and rigidity affect nuclear morphology independent of lamins

Stephens AD, Liu PZ, Banigan EJ, et al. Mol Biol Cell. 2018;29(2):220-233. doi:10.1091/mbc.E17-06-0410

The molecular architecture of lamins in somatic cells

Turgay Y, Eibauer M, Goldman AE, et al. Nature. 2017;543(7644):261-264. doi:10.1038/nature21382

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. 2018;131(3):jcs208462. Published 2018 Feb 8. doi:10.1242/jcs.208462

Progerin-Induced Replication Stress Facilitates Premature Senescence in Hutchinson-Gilford Progeria Syndrome

Wheaton K, Campuzano D, Ma W, et al. Mol Cell Biol. 2017;37(14):e00659-16. Published 2017 Jun 29. doi:10.1128/MCB.00659-16

Substrate stiffness-dependent regulation of the SRF-Mkl1 co-activator complex requires the inner nuclear membrane protein Emerin

Willer MK, Carroll CW. J Cell Sci. 2017;130(13):2111-2118. doi:10.1242/jcs.197517

2016

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

Simple Separation of Functionally Distinct Populations of Lamin-Binding Proteins

Berk JM, Wilson KL. Methods Enzymol. 2016;569:101-114. doi:10.1016/bs.mie.2015.09.034

Seeking a Cure for One of the Rarest Diseases: Progeria

Collins FS. Circulation. 2016;134(2):126-129. doi:10.1161/CIRCULATIONAHA.116.022965

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

Temsirolimus Partially Rescues the Hutchinson-Gilford Progeria Cellular Phenotype

Gabriel D, Gordon LB, Djabali K. PLoS One. 2016;11(12):e0168988. Published 2016 Dec 29. doi:10.1371/journal.pone.0168988

Clinical Trial of the Protein Farnesylation Inhibitors Lonafarnib, Pravastatin, and Zoledronic Acid in Children With Hutchinson-Gilford Progeria Syndrome

Gordon LB, Kleinman ME, Massaro J, et al. Circulation. 2016;134(2):114-125. doi:10.1161/CIRCULATIONAHA.116.022188

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

Repression of the Antioxidant NRF2 Pathway in Premature Aging

Kubben N, Zhang W, Wang L, et al. Cell. 2016;165(6):1361-1374. doi:10.1016/j.cell.2016.05.017

Interruption of progerin-lamin A/C binding ameliorates Hutchinson-Gilford progeria syndrome phenotype

Lee SJ, Jung YS, Yoon MH, et al. J Clin Invest. 2016;126(10):3879-3893. doi:10.1172/JCI84164

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. Aging (Albany NY). 2016;8(2):366-381. doi:10.18632/aging.100903

Cardiac electrical defects in progeroid mice and Hutchinson-Gilford progeria syndrome patients with nuclear lamina alterations

Rivera-Torres J, Calvo CJ, Llach A, et al. Proc Natl Acad Sci U S A. 2016;113(46):E7250-E7259. doi:10.1073/pnas.1603754113

Molecular insights into the premature aging disease progeria

Vidak S, Foisner R. Histochem Cell Biol. 2016;145(4):401-417. doi:10.1007/s00418-016-1411-1

2015

ADAMTS7 in cardiovascular disease: from bedside to bench and back again?

Arroyo AG, Andrés V. Circulation. 2015;131(13):1156-1159. doi:10.1161/CIRCULATIONAHA.115.015711

Progerin reduces LAP2α-telomere association in Hutchinson-Gilford progeria

Chojnowski A, Ong PF, Wong ES, et al. Elife. 2015;4:e07759. Published 2015 Aug 27. doi:10.7554/eLife.07759

Autophagy mediates degradation of nuclear lamina

Dou Z, Xu C, Donahue G, et al. Nature. 2015;527(7576):105-109. doi:10.1038/nature15548

The tail domain of lamin B1 is more strongly modulated by divalent cations than lamin A

Ganesh S, Qin Z, Spagnol ST, et al. Nucleus. 2015;6(3):203-211. doi:10.1080/19491034.2015.1031436

A high-content imaging-based screening pipeline for the systematic identification of anti-progeroid compounds

Kubben N, Brimacombe KR, Donegan M, Li Z, Misteli T. Methods. 2016;96:46-58. doi:10.1016/j.ymeth.2015.08.024

Mutant lamin A links prophase to a p53 independent senescence program

Moiseeva O, Lessard F, Acevedo-Aquino M, Vernier M, Tsantrizos YS, Ferbeyre G. Cell Cycle. 2015;14(15):2408-2421. doi:10.1080/15384101.2015.1053671

Lamins at the crossroads of mechanosignaling

Osmanagic-Myers S, Dechat T, Foisner R. Genes Dev. 2015;29(3):225-237. doi:10.1101/gad.255968.114

Gene-rich chromosomal regions are preferentially localized in the lamin B deficient nuclear blebs of atypical progeria cells

Bercht Pfleghaar K, Taimen P, Butin-Israeli V, et al. [published correction appears in Nucleus. 2015;6(3):247. doi: 10.1080/19491034.2015.1049921]. Nucleus. 2015;6(1):66-76. doi:10.1080/19491034.2015.1004256

Structural organization of nuclear lamins A, C, B1, and B2 revealed by superresolution microscopy

Shimi T, Kittisopikul M, Tran J, et al. Mol Biol Cell. 2015;26(22):4075-4086. doi:10.1091/mbc.E15-07-0461

Transgene silencing of the Hutchinson-Gilford progeria syndrome mutation results in a reversible bone phenotype, whereas resveratrol treatment does not show overall beneficial effects

Strandgren C, Nasser HA, McKenna T, et al. FASEB J. 2015;29(8):3193-3205. doi:10.1096/fj.14-269217

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 Dev. 2015;29(19):2022-2036. doi:10.1101/gad.263939.115

2014

Expression of progerin in aging mouse brains reveals structural nuclear abnormalities without detectible significant alterations in gene expression, hippocampal stem cells or behavior

Baek JH, Schmidt E, Viceconte N, et al. Hum Mol Genet. 2015;24(5):1305-1321. doi:10.1093/hmg/ddu541

The non-random repositioning of whole chromosomes and individual gene loci in interphase nuclei and its relevance in disease, infection, aging, and cancer

Bridger JM, Arican-Gotkas HD, Foster HA, et al. [published correction appears in Adv Exp Med Biol. 2014;773:E1]. Adv Exp Med Biol. 2014;773:263-279. doi:10.1007/978-1-4899-8032-8_12

Role of lamin b1 in chromatin instability

Butin-Israeli V, Adam SA, Jain N, et al.. Mol Cell Biol. 2015;35(5):884-898. doi:10.1128/MCB.01145-14

Systematic identification of pathological lamin A interactors

Dittmer TA, Sahni N, Kubben N, et al. Mol Biol Cell. 2014;25(9):1493-1510. doi:10.1091/mbc.E14-02-0733

Sulforaphane enhances progerin clearance in Hutchinson-Gilford progeria fibroblasts

Gabriel D, Roedl D, Gordon LB, Djabali K. Aging Cell. 2015;14(1):78-91. doi:10.1111/acel.12300

Sorting nexin 6 enhances lamin a synthesis and incorporation into the nuclear envelope

González-Granado JM, Navarro-Puche A, Molina-Sanchez P, et al. PLoS One. 2014;9(12):e115571. Published 2014 Dec 23. doi:10.1371/journal.pone.0115571

Nuclear envelope lamin-A couples actin dynamics with immunological synapse architecture and T cell activation

González-Granado JM, Silvestre-Roig C, Rocha-Perugini V, et al. Sci Signal. 2014;7(322):ra37. Published 2014 Apr 22. doi:10.1126/scisignal.2004872

Interfacial binding and aggregation of lamin A tail domains associated with Hutchinson-Gilford progeria syndrome

Kalinowski A, Yaron PN, Qin Z, et al. Biophys Chem. 2014;195:43-48. doi:10.1016/j.bpc.2014.08.005

Interphase phosphorylation of lamin A

Kochin V, Shimi T, Torvaldson E, et al. J Cell Sci. 2014;127(Pt 12):2683-2696. doi:10.1242/jcs.141820

Mouse models and aging: longevity and progeria

Liao CY, Kennedy BK. Curr Top Dev Biol. 2014;109:249-285. doi:10.1016/B978-0-12-397920-9.00003-2

Atherosclerosis in ancient humans, accelerated aging syndromes and normal aging: is lamin a protein a common link?

Miyamoto MI, Djabali K, Gordon LB. Glob Heart. 2014;9(2):211-218. doi:10.1016/j.gheart.2014.04.001

Initial cutaneous manifestations of Hutchinson-Gilford progeria syndrome

Rork JF, Huang JT, Gordon LB, Kleinman M, Kieran MW, Liang MG. Pediatr Dermatol. 2014;31(2):196-202. doi:10.1111/pde.12284

2013

Regulation of nucleotide excision repair by nuclear lamin b1

Butin-Israeli V, Adam SA, Goldman RD. PLoS One. 2013;8(7):e69169. Published 2013 Jul 24. doi:10.1371/journal.pone.0069169

Broken nuclei–lamins, nuclear mechanics, and disease

Davidson PM, Lammerding J. Trends Cell Biol. 2014;24(4):247-256. doi:10.1016/j.tcb.2013.11.004

Mechanical model of blebbing in nuclear lamin meshworks

Funkhouser CM, Sknepnek R, Shimi T, Goldman AE, Goldman RD, Olvera de la Cruz M. Proc Natl Acad Sci U S A. 2013;110(9):3248-3253. doi:10.1073/pnas.1300215110

Lamin A/C and emerin regulate MKL1-SRF activity by modulating actin dynamics

Ho CY, Jaalouk DE, Vartiainen MK, Lammerding J. Nature. 2013;497(7450):507-511. doi:10.1038/nature12105

Nuclear mechanics and mechanotransduction in health and disease

Isermann P, Lammerding J. Curr Biol. 2013;23(24):R1113-R1121. doi:10.1016/j.cub.2013.11.009

Calcium causes a conformational change in lamin A tail domain that promotes farnesyl-mediated membrane association

Kalinowski A, Qin Z, Coffey K, et al. Biophys J. 2013;104(10):2246-2253. doi:10.1016/j.bpj.2013.04.016

Identification of mitochondrial dysfunction in Hutchinson-Gilford progeria syndrome through use of stable isotope labeling with amino acids in cell culture

Rivera-Torres J, Acín-Perez R, Cabezas-Sánchez P, et al. J Proteomics. 2013;91:466-477. doi:10.1016/j.jprot.2013.08.008

Imaging characteristics of cerebrovascular arteriopathy and stroke in Hutchinson-Gilford progeria syndrome

Silvera VM, Gordon LB, Orbach DB, Campbell SE, Machan JT, Ullrich NJ. AJNR Am J Neuroradiol. 2013;34(5):1091-1097. doi:10.3174/ajnr.A3341

Neurologic features of Hutchinson-Gilford progeria syndrome after lonafarnib treatment

Ullrich NJ, Kieran MW, Miller DT, et al. Neurology. 2013;81(5):427-430. doi:10.1212/WNL.0b013e31829d85c0

Defective extracellular pyrophosphate metabolism promotes vascular calcification in a mouse model of Hutchinson-Gilford progeria syndrome that is ameliorated on pyrophosphate treatment

Villa-Bellosta R, Rivera-Torres J, Osorio FG, et al. Circulation. 2013;127(24):2442-2451. doi:10.1161/CIRCULATIONAHA.112.000571

2012

A prospective study of radiographic manifestations in Hutchinson-Gilford progeria syndrome

Cleveland RH, Gordon LB, Kleinman ME, et al. Pediatr Radiol. 2012;42(9):1089-1098. doi:10.1007/s00247-012-2423-1

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. Aging (Albany NY). 2012;4(2):119-132. doi:10.18632/aging.100434

Mechanisms of premature vascular aging in children with Hutchinson-Gilford progeria syndrome

Gerhard-Herman M, Smoot LB, Wake N, et al. Hypertension. 2012;59(1):92-97. doi:10.1161/HYPERTENSIONAHA.111.180919

Clinical trial of a farnesyltransferase inhibitor in children with Hutchinson-Gilford progeria syndrome

Gordon LB, Kleinman ME, Miller DT, et al. Proc Natl Acad Sci U S A. 2012;109(41):16666-16671. doi:10.1073/pnas.1202529109

Progeria: translational insights from cell biology

Gordon LB, Cao K, Collins FS. J Cell Biol. 2012;199(1):9-13. doi:10.1083/jcb.201207072

Resveratrol rescues SIRT1-dependent adult stem cell decline and alleviates progeroid features in laminopathy-based progeria

Liu B, Ghosh S, Yang X, et al. Cell Metab. 2012;16(6):738-750. doi:10.1016/j.cmet.2012.11.007

Replication factor C1, the large subunit of replication factor C, is proteolytically truncated in Hutchinson-Gilford progeria syndrome

Tang H, Hilton B, Musich PR, Fang DZ, Zou Y. Aging Cell. 2012;11(2):363-365. doi:10.1111/j.1474-9726.2011.00779.x

Craniofacial abnormalities in Hutchinson-Gilford progeria syndrome

Ullrich NJ, Silvera VM, Campbell

2011

Accumulation of distinct prelamin A variants in human diploid fibroblasts differentially affects cell homeostasis

Candelario J, Borrego S, Reddy S, Comai L. Exp Cell Res. 2011;317(3):319-329. doi:10.1016/j.yexcr.2010.10.014

Computational image analysis of nuclear morphology associated with various nuclear-specific aging disorders

Choi S, Wang W, Ribeiro AJ, et al. Nucleus. 2011;2(6):570-579. doi:10.4161/nucl.2.6.17798

Hutchinson-Gilford progeria is a skeletal dysplasia

Gordon CM, Gordon LB, Snyder BD, et al.. J Bone Miner Res. 2011;26(7):1670-1679. doi:10.1002/jbmr.392

Age-dependent loss of MMP-3 in Hutchinson-Gilford progeria syndrome

Harten IA, Zahr RS, Lemire JM, et al. J Gerontol A Biol Sci Med Sci. 2011;66(11):1201-1207. doi:10.1093/gerona/glr137

The defective nuclear lamina in Hutchinson-gilford progeria syndrome disrupts the nucleocytoplasmic Ran gradient and inhibits nuclear localization of Ubc9

Kelley JB, Datta S, Snow CJ, et al. Mol Cell Biol. 2011;31(16):3378-3395. doi:10.1128/MCB.05087-11

‘Relax and Repair’ to restrain aging

Krishnan V, Liu B, Zhou Z. Aging (Albany NY). 2011;3(10):943-954. doi:10.18632/aging.100399

Histone H4 lysine 16 hypoacetylation is associated with defective DNA repair and premature senescence in Zmpste24-deficient mice

Krishnan V, Chow MZ, Wang Z, et al. Proc Natl Acad Sci U S A. 2011;108(30):12325-12330. doi:10.1073/pnas.1102789108

DNA-damage accumulation and replicative arrest in Hutchinson-Gilford progeria syndrome

Musich PR, Zou Y. Biochem Soc Trans. 2011;39(6):1764-1769. doi:10.1042/BST20110687

Structure and stability of the lamin A tail domain and HGPS mutant

Qin Z, Kalinowski A, Dahl KN, Buehler MJ. J Struct Biol. 2011;175(3):425-433. doi:10.1016/j.jsb.2011.05.015

Protein farnesylation inhibitors cause donut-shaped cell nuclei attributable to a centrosome separation defect

Verstraeten VL, Peckham LA, Olive M, et al. Proc Natl Acad Sci U S A. 2011;108(12):4997-5002. doi:10.1073/pnas.1019532108

2010

Mechanobiology and the microcirculation: cellular, nuclear and fluid mechanics

Dahl KN, Kalinowski A, Pekkan K. Microcirculation. 2010;17(3):179-191. doi:10.1111/j.1549-8719.2009.00016.x

Cardiovascular pathology in Hutchinson-Gilford progeria: correlation with the vascular pathology of aging

Olive M, Harten I, Mitchell R, et al. Arterioscler Thromb Vasc Biol. 2010;30(11):2301-2309. doi:10.1161/ATVBAHA.110.209460

2009

Association of progerin-interactive partner proteins with lamina proteins: Mel18 is associated with emerin in HGPS

Ju WN, Brown WT, Zhong N. Beijing Da Xue Xue Bao Yi Xue Ban. 2009;41(4):397-401.

Altered nuclear functions in progeroid syndromes: a paradigm for aging research

Li B, Jog S, Candelario J, Reddy S, Comai L. ScientificWorldJournal. 2009;9:1449-1462. Published 2009 Dec 16. doi:10.1100/tsw.2009.159

2008

Perturbation of wild-type lamin A metabolism results in a progeroid phenotype

Candelario J, Sudhakar S, Navarro S, Reddy S, Comai L. Aging Cell. 2008;7(3):355-367. doi:10.1111/j.1474-9726.2008.00393.x

Involvement of xeroderma pigmentosum group A (XPA) in progeria arising from defective maturation of prelamin A

Liu Y, Wang Y, Rusinol AE, et al. FASEB J. 2008;22(2):603-611. doi:10.1096/fj.07-8598com

Towards an integrated understanding of the structure and mechanics of the cell nucleus

Rowat AC, Lammerding J, Herrmann H, Aebi U. Bioessays. 2008;30(3):226-236. doi:10.1002/bies.20720

Lamin A-dependent misregulation of adult stem cells associated with accelerated ageing

Scaffidi P, Misteli T. Nat Cell Biol. 2008;10(4):452-459. doi:10.1038/ncb1708

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;7(3):383-393. doi:10.1111/j.1474-9726.2008.00382.x

Eliminating the synthesis of mature lamin A reduces disease phenotypes in mice carrying a Hutchinson-Gilford progeria syndrome allele

Yang SH, Qiao X, Farber E, Chang SY, Fong LG, Young SG. J Biol Chem. 2008;283(11):7094-7099. doi:10.1074/jbc.M708138200

Treatment with a farnesyltransferase inhibitor improves survival in mice with a Hutchinson-Gilford progeria syndrome mutation

Yang SH, Qiao X, Fong LG, Young SG. Biochim Biophys Acta. 2008;1781(1-2):36-39. doi:10.1016/j.bbalip.2007.11.003

2007

Disease progression in Hutchinson-Gilford progeria syndrome: impact on growth and development

Gordon LB, McCarten KM, Giobbie-Hurder A, et al. Pediatrics. 2007;120(4):824-833. doi:10.1542/peds.2007-1357

Cell nuclei spin in the absence of lamin b1

Ji JY, Lee RT, Vergnes L, et al. J Biol Chem. 2007;282(27):20015-20026. doi:10.1074/jbc.M611094200

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, et al. PLoS One. 2007;2(12):e1269. Published 2007 Dec 5. doi:10.1371/journal.pone.0001269

Increased progerin expression associated with unusual LMNA mutations causes severe progeroid syndromes

Moulson CL, Fong LG, Gardner JM, et al. Hum Mutat. 2007;28(9):882-889. doi:10.1002/humu.20536

2006

Prelamin A and lamin A appear to be dispensable in the nuclear lamina

Fong LG, Ng JK, Lammerding J, et al. J Clin Invest. 2006;116(3):743-752. doi:10.1172/JCI27125

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;127(8):660-669. doi:10.1016/j.mad.2006.03.004

Nuclear lamins, diseases and aging

Mattout A, Dechat T, Adam SA, Goldman RD, Gruenbaum Y. Curr Opin Cell Biol. 2006;18(3):335-341. doi:10.1016/j.ceb.2006.03.007

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

Protein farnesyltransferase inhibitors and progeria

Meta M, Yang SH, Bergo MO, Fong LG, Young SG. Trends Mol Med. 2006;12(10):480-487. doi:10.1016/j.molmed.2006.08.006

Mutant nuclear lamin A leads to progressive alterations of epigenetic control in premature aging

Shumaker DK, Dechat T, Kohlmaier A, et al. Proc Natl Acad Sci U S A. 2006;103(23):8703-8708. doi:10.1073/pnas.0602569103

Prelamin A farnesylation and progeroid syndromes

Young SG, Meta M, Yang SH, Fong LG. J Biol Chem. 2006;281(52):39741-39745. doi:10.1074/jbc.R600033200

2005

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;14(20):2959-2969. doi:10.1093/hmg/ddi326

Reduced adiponectin and HDL cholesterol without elevated C-reactive protein: clues to the biology of premature atherosclerosis in Hutchinson-Gilford Progeria Syndrome

Gordon LB, Harten IA, Patti ME, Lichtenstein AH. J Pediatr. 2005;146(3):336-341. doi:10.1016/j.jpeds.2004.10.064

Correction of cellular phenotypes of Hutchinson-Gilford Progeria cells by RNA interference

Huang S, Chen L, Libina N, et al. Hum Genet. 2005;118(3-4):444-450. doi:10.1007/s00439-005-0051-7

Inhibiting farnesylation reverses the nuclear morphology defect in a HeLa cell model for Hutchinson-Gilford progeria syndrome

Mallampalli MP, Huyer G, Bendale P, Gelb MH, Michaelis S. Proc Natl Acad Sci U S A. 2005;102(40):14416-14421. doi:10.1073/pnas.0503712102

Dermal fibroblasts in Hutchinson-Gilford progeria syndrome with the lamin A G608G mutation have dysmorphic nuclei and are hypersensitive to heat stress

Paradisi M, McClintock D, Boguslavsky RL, Pedicelli C, Worman HJ, Djabali K. BMC Cell Biol. 2005;6:27. Published 2005 Jun 27. doi:10.1186/1471-2121-6-27

Blocking protein farnesyltransferase improves nuclear shape in fibroblasts from humans with progeroid syndromes

Toth JI, Yang SH, Qiao X, et al. Proc Natl Acad Sci U S A. 2005;102(36):12873-12878. doi:10.1073/pnas.0505767102

Blocking protein farnesyltransferase improves nuclear blebbing in mouse fibroblasts with a targeted Hutchinson-Gilford progeria syndrome mutation

Yang SH, Bergo MO, Toth JI, et al. Proc Natl Acad Sci U S A. 2005;102(29):10291-10296. doi:10.1073/pnas.0504641102

Prelamin A, Zmpste24, misshapen cell nuclei, and progeria–new evidence suggesting that protein farnesylation could be important for disease pathogenesis

Young SG, Fong LG, Michaelis S. J Lipid Res. 2005;46(12):2531-2558. doi:10.1194/jlr.R500011-JLR200

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;338(2):855-861. doi:10.1016/j.bbrc.2005.10.020

2004

Genome-scale expression profiling of Hutchinson-Gilford progeria syndrome reveals widespread transcriptional misregulation leading to mesodermal/mesenchymal defects and accelerated atherosclerosis

Csoka AB, English SB, Simkevich CP, et al. Aging Cell. 2004;3(4):235-243. doi:10.1111/j.1474-9728.2004.00105.x

Heterozygosity for Lmna deficiency eliminates the progeria-like phenotypes in Zmpste24-deficient mice

Fong LG, Ng JK, Meta M, et al. Proc Natl Acad Sci U S A. 2004;101(52):18111-18116. doi:10.1073/pnas.0408558102

Accumulation of mutant lamin A causes progressive changes in nuclear architecture in Hutchinson-Gilford progeria syndrome

Goldman RD, Shumaker DK, Erdos MR, et al. Proc Natl Acad Sci U S A. 2004;101(24):8963-8968. doi:10.1073/pnas.0402943101

2003