Genome instability in progeria: when repair gets old

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

Eriksson, M., Brown, W. T., Gordon, L. B., Glynn, M. W., Singer, J. I., Scott, L. J., Erdos, M. R., Robbins, C. M., Moses, T. Y., Berglund, P., et al. (2003) · Nature · doi:10.1038/nature01629 · Cited by 2,217 · see citing works

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

Goldman, R. D., Shumaker, D. K., Erdos, M. R., Eriksson, M., Goldman, A. E., Gordon, L. B., Gruenbaum, Y., Khuon, S., Mendez, M., Varga, R., et al. (2004) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0402943101 · Cited by 1,103 · see citing works

DNA Repair, Genome Stability, and Aging

Lombard, D. B., Chua, K. F., Mostoslavsky, R., Franco, S., Gostissa, M., & Alt, F. W. (2005) · Cell · doi:10.1016/j.cell.2005.01.028 · Cited by 944 · see citing works

Genomic instability in laminopathy-based premature aging

Liu, B., Wang, J., Chan, K. M., Tjia, W. M., Deng, W., Guan, X., Huang, J.-D., Li, K. M., Chau, P. Y., Chen, D. J., et al. (2005) · Nature Medicine · doi:10.1038/nm1266 · Cited by 650 · see citing works

Reversal of the cellular phenotype in the premature aging disease Hutchinson-Gilford progeria syndrome

Scaffidi, P., & Misteli, T. (2005) · Nature Medicine · doi:10.1038/nm1204 · Cited by 619 · see citing works

Nuclear lamins: building blocks of nuclear architecturePreprint

Goldman, R. D., Gruenbaum, Y., Moir, R. D., Shumaker, D. K., & Spann, T. P. (2002) · Genes & Development · doi:10.1101/gad.960502 · Cited by 587 · see citing works

Homozygous Defects in LMNA, Encoding Lamin A/C Nuclear-Envelope Proteins, Cause Autosomal Recessive Axonal Neuropathy in Human (Charcot-Marie-Tooth Disorder Type 2) and Mouse

Sandre‐Giovannoli, A. D., Chaouch, M., Kozlov, S. V., Vallat, J.-M., Tazir, M., Kassouri, N., Szepetowski, P., Hamadouche, T., Vandenberghe, A., Stewart, C. L., et al. (2002) · The American Journal of Human Genetics · doi:10.1086/339274 · Cited by 562 · see citing works

Life at the edge: the nuclear envelope and human disease

Burke, B. E., & Stewart, C. L. (2002) · Nature Reviews Molecular Cell Biology · doi:10.1038/nrm879 · Cited by 425 · see citing works

Zinc metalloproteinase, ZMPSTE24, is mutated in mandibuloacral dysplasia

Agarwal, A. K. (2003) · Human Molecular Genetics · doi:10.1093/hmg/ddg213 · Cited by 402 · see citing works

Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy

Navarro, C. L., Sandre‐Giovannoli, A. D., Bernard, R., Boccaccio, I., Boyer, A., Geneviève, D., Hadj-Rabia, S., Gaudy‐Marqueste, C., Smitt, S., Vabres, P., et al. (2004) · Human Molecular Genetics · doi:10.1093/hmg/ddh265 · Cited by 377 · see citing works

Hutchinson–Gilford progeria syndrome

Pollex, R. L., & Hegele, R. A. (2004) · Clinical Genetics · doi:10.1111/j.1399-0004.2004.00315.x · Cited by 194 · see citing works

Biomarkers of cellular senescence and skin aging

Wang, A. S., & Dreesen, O. (2018) · Frontiers in Genetics · doi:10.3389/fgene.2018.00247 · Cited by 404 · see citing works

DNA damage responses in progeroid syndromes arise from defective maturation of prelamin A

Liu, Y., Rusinol, A., Sinensky, M., Wang, Y., & Zou, Y. (2006) · Journal of Cell Science · doi:10.1242/jcs.03263 · Cited by 228 · see citing works

Oxidative stress induces an ATM‐independent senescence pathway through p38 MAPK‐mediated lamin B1 accumulation

Barascu, A., Le Chalony, C., Pennarun, G., Genet, D., Imam, N., Lopez, B., & Bertrand, P. (2012) · The EMBO Journal · doi:10.1038/emboj.2011.492 · Cited by 206 · see citing works

Unique Preservation of Neural Cells in Hutchinson- Gilford Progeria Syndrome Is Due to the Expression of the Neural-Specific miR-9 MicroRNA

Nissan, X., Blondel, S., Navarro, C. L., Maury, Y., Denis, C., Girard, M., Martinat, C., Sandre‐Giovannoli, A. D., Lévy, N., & Peschanski, M. (2012) · Cell Reports · doi:10.1016/j.celrep.2012.05.015 · Cited by 168 · see citing works

Genetics, lifestyle and longevity: Lessons from centenarians

Govindaraju, D., Atzmon, G., & Barzilai, N. (2015) · Applied & Translational Genomics · doi:10.1016/j.atg.2015.01.001 · Cited by 128 · see citing works

Genomic instability and DNA damage responses in progeria arising from defective maturation of prelamin A

Musich, P. R., & Zou, Y. (2009) · Aging · doi:10.18632/aging.100012 · Cited by 117 · see citing works

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

Liu, Y., Wang, Y., Rusinol, A. E., Sinensky, M. S., Liu, J., Shell, S. M., & Zou, Y. (2008) · The FASEB Journal · doi:10.1096/fj.07-8598com · Cited by 115 · see citing works

Mandibuloacral dysplasia: A premature ageing disease with aspects of physiological ageing

Cenni, V., D’Apice, M. R., Garagnani, P., Columbaro, M., Novelli, G., Franceschi, C., & Lattanzi, G. (2017) · Ageing Research Reviews · doi:10.1016/j.arr.2017.12.001 · Cited by 90 · see citing works

Disrupting the LINC complex in smooth muscle cells reduces aortic disease in a mouse model of Hutchinson-Gilford progeria syndrome

Kim, P. H., Luu, J. C., Heizer, P. J., Tu, Y., Weston, T. A., Chen, N., Lim, C., Li, R. L., Lin, P., Dunn, J., et al. (2018) · Science Translational Medicine · doi:10.1126/scitranslmed.aat7163 · Cited by 74 · see citing works

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

Wheaton, K., Campuzano, D., Ma, W., Sheinis, M., Ho, B., Brown, G. W., & Benchimol, S. (2017) · Molecular and Cellular Biology · doi:10.1128/mcb.00659-16 · Cited by 72 · see citing works

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

Musich, P. R., & Zou, Y. (2011) · Biochemical Society Transactions · doi:10.1042/bst20110687 · Cited by 68 · see citing works

Current insights into LMNA cardiomyopathies: Existing models and missing LINCs

Brayson, D., & Shanahan, C. M. (2017) · Nucleus · doi:10.1080/19491034.2016.1260798 · Cited by 66 · see citing works

Barrier-to-Autointegration Factor (BAF) involvement in prelamin A-related chromatin organization changes

Loi, M., Cenni, V., Duchi, S., Squarzoni, S., López-Otı́n, C., Foisner, R., Lattanzi, G., & Capanni, C. (2015) · Oncotarget · doi:10.18632/oncotarget.6697 · Cited by 55 · see citing works

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

Hilton, B. A., Liu, J., Cartwright, B. M., Liu, Y., Breitman, M., Wang, Y., Jones, R., Tang, H., Rusinol, A., Musich, P. R., et al. (2017) · The FASEB Journal · doi:10.1096/fj.201700014r · Cited by 52 · see citing works

A Comparative Study of Drosophila and Human A-Type Lamins

Schulze, S. R., Curio-Penny, B., Speese, S. D., Dialynas, G. K., Cryderman, D. E., McDonough, C. W., Nalbant, D., Petersen, M., Budnik, V., Geyer, P., et al. (2009) · PLoS ONE · doi:10.1371/journal.pone.0007564 · Cited by 52 · see citing works

The cell nucleus and aging: tantalizing clues and hopeful promises

Scaffidi, P., Gordon, L., & Misteli, T. (2005) · PLoS Biology · doi:10.1371/journal.pbio.0030395 · Cited by 50 · see citing works

Transcription of Satellite DNAs in Mammals

Vourc’h, C., & Biamonti, G. (2010) · Progress in molecular and subcellular biology · doi:10.1007/978-3-642-16502-3_5 · Cited by 50 · see citing works

Prelamin A mediates myocardial inflammation in dilated and HIV-associated cardiomyopathies

Brayson, D., Frustaci, A., Verardo, R., Chimenti, C., Russo, M. A., Hayward, R., Ahmad, S., Vizcay‐Barrena, G., Protti, A., Zammit, P. S., et al. (2019) · JCI Insight · doi:10.1172/jci.insight.126315 · Cited by 47 · see citing works

LINCing lamin B2 to neuronal migration

Coffinier, C., Fong, L. G., & Young, S. G. (2010) · Nucleus · doi:10.4161/nucl.1.5.12830 · Cited by 41 · see citing works

Oxydative stress alters nuclear shape through lamins dysregulation

Barascu, A., Chalony, C. L., Pennarun, G., Genet, D., Zaarour, N., & Bertrand, P. (2012) · Nucleus · doi:10.4161/nucl.21674 · Cited by 42 · see citing works

The R527H mutation in LMNA gene causes an increased sensitivity to ionizing radiation

di Masi, A., D’Apice, M. R., Ricordye, R., Tanzarella, C., & Novelli, G. (2008) · Cell Cycle · doi:10.4161/cc.7.13.6149 · Cited by 38 · see citing works

Physiological and Pathological Aging Affects Chromatin Dynamics, Structure and Function at the Nuclear Edge

Robin, J. D., & Magdinier, F. (2016) · Frontiers in Genetics · doi:10.3389/fgene.2016.00153 · Cited by 36 · see citing works

Shear stress-induced mechanotransduction protein deregulation and vasculopathy in a mouse model of progeria

Song, M., San, H., Anderson, S. A., Cannon, R. O., & Orlic, D. (2014) · Stem Cell Research & Therapy · doi:10.1186/scrt429 · Cited by 30 · see citing works

The nuclear envelope: LINCing tissue mechanics to genome regulation in cardiac and skeletal muscle

Piccus, R., & Brayson, D. (2020) · Biology Letters · doi:10.1098/rsbl.2020.0302 · Cited by 26 · see citing works

Dysfunction of lamin A triggers a DNA damage response and cellular senescence

Lees‐Miller, S. P. (2005) · DNA repair · doi:10.1016/j.dnarep.2005.10.007 · Cited by 26 · see citing works

Xeroderma Pigmentosa Group A (XPA), Nucleotide Excision Repair and Regulation by ATR in Response to Ultraviolet Irradiation

Musich, P. R., Li, Z., & Zou, Y. (2017) · Advances in Experimental Medicine and Biology · doi:10.1007/978-3-319-56017-5_4 · Cited by 23 · see citing works

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

Martin, R. S., Das, P., Sanders, J. T., Hill, A. M., & McCord, R. P. (2022) · eLife · doi:10.7554/elife.81290 · Cited by 17 · see citing works

ATM modulates subventricular zone neural stem cell maintenance and senescence through Notch signaling pathway

Dong, C., Wang, X., Sun, L., Zhu, L., Yang, D., Gao, S., Zhang, W., Ling, B., Liang, A., Gao, Z., et al. (2022) · Stem Cell Research · doi:10.1016/j.scr.2021.102618 · Cited by 16 · see citing works

Les syndromes lipodystrophiques : des adipopathies congénitales ou acquises

Capeau, J., Vigouroux, C., Magré, J., Lascols, O., Caron, M., & Bastard, J. (2006) · Comptes Rendus Biologies · doi:10.1016/j.crvi.2005.11.008 · Cited by 15 · see citing works

A filtering strategy identifies FOXQ1 as a potential effector of lamin A dysfunction

Candelario, J., Chen, L., Marjoram, P., Reddy, S., & Comai, L. (2012) · Aging · doi:10.18632/aging.100483 · Cited by 9 · see citing works

SPRTN is a new player in an old story

Hiom, K. J. (2014) · Nature Genetics · doi:10.1038/ng.3125 · Cited by 9 · see citing works

Expression of progerin does not result in an increased mutation rate

Deniaud, E., Boumendil, C., Boyle, S., & Bickmore, W. A. (2017) · Chromosome Research · doi:10.1007/s10577-017-9556-x · Cited by 6 · see citing works

The Nuclear Envelope in Cardiac Health and Disease

Brayson, D., & Shanahan, C. M. (2015) · Springer eBooks · doi:10.1007/978-3-319-15263-9_9 · Cited by 3 · see citing works

1, Structural and Functional Studies of Human Replication Protein A; 2 DNA Damage Responses and DNA Repair Defects in Laminopathy-Based Premature Aging.

Liu, Y. (2007) · Digital Commons - East Tennessee State University (East Tennessee State University) · Cited by 3 · see citing works

Hutchinson-Gilford Progeria Syndrome

Wheaton, K. (2019) · Springer eBooks · doi:10.1007/978-3-319-69892-2_53-1 · Cited by 2 · see citing works

Folate-fortified hormonal contraceptives in the strategy of primary prevention of cancer among women of reproductive age (a review)

Tapilskaya, N. I., & Glushakov, R. I. (2018) · Russian Journal of Human Reproduction · doi:10.17116/repro20182406151 · Cited by 1 · see citing works

Genetic and acquired lipodystrophies: from fat redistribution to insulin resistance and aging

Capeau, J., Magré, J., Caron, M., Lagathu, C., Bastard, J., & Vigouroux, C. (2006) · Future Lipidology · doi:10.2217/17460875.1.5.593 · Cited by 1 · see citing works

Genetic Disorders of Collagen, Elastin and Dermal Matrix

Burrows, N. (2016) · doi:10.1002/9781118441213.rtd0073 · Cited by 1 · see citing works

The Antitumor Potential Of The Endocannabinoid-Reuptake Inhibitor Omdm-2 Alone And In Combination With Cytostatic Drugs

Ammar, R. M. (2015) · INFM-OAR (INFN Catania) · doi:10.5281/zenodo.32654

Hutchinson-Gilford Progeria Syndrome

Wheaton, K. (2021) · Springer eBooks · doi:10.1007/978-3-030-22009-9_53

Recent research advances in disease models of Hutchinson-Gilford Progeria SyndromePreprint

Yang, J. (2022) · doi:10.14293/s2199-1006.1.sor-.ppylhy8.v1

Genetic Disorders of Collagen, Elastin and Dermal Matrix

Burrows, N. (2024) · Wiley eBooks · doi:10.1002/9781119709268.rook070

Fragmentation of nucleoli in senescent cancer cells is associated with increased levels of polyadenylated transcripts derived from noncoding regions of rDNA units

Sochorová, J., Lukášová, E., Polanská, E., Řehůřková, K., & Kovařı́k, A. (2025) · European Biophysics Journal · doi:10.1007/s00249-025-01773-9

DNA repair defects and genome instability in Hutchinson–Gilford Progeria Syndrome

Gonzalo, S., & Kreienkamp, R. J. (2015) · Current Opinion in Cell Biology · doi:10.1016/j.ceb.2015.05.007 · Cited by 134 · see citing works

Mechanisms of genome instability in Hutchinson-Gilford progeria

Zhang, H., & Cao, K. (2016) · Frontiers in Biology · doi:10.1007/s11515-016-1435-x · Cited by 2 · see citing works

Genomic instability and DNA damage responses in progeria arising from defective maturation of prelamin A

Musich, P. R., & Zou, Y. (2009) · Aging · doi:10.18632/aging.100012 · Cited by 117 · see citing works

Genomic instability and DNA replication defects in progeroid syndromes

Burla, R., La Torre, M., Merigliano, C., Vernì, F., & Saggio, I. (2018) · Nucleus · doi:10.1080/19491034.2018.1476793 · Cited by 59 · see citing works

Genomic instability and innate immune responses to self-DNA in progeria

Gonzalo, S., & Coll-Bonfill, N. (2019) · GeroScience · doi:10.1007/s11357-019-00082-2 · Cited by 43 · see citing works