Genome instability in progeria: when repair gets old.

作者: Tom Misteli , Paola Scaffidi

DOI: 10.1038/NM0705-718

关键词:

摘要: Genome instability and DNA repair defects have been discovered in the premature aging disease Hutchinson-Gilford progeria syndrome. These findings provide first hint of a molecular mechanism for group human conditions caused by nuclear structural protein lamin A (pages 780–785).

参考文章(11)
RL Pollex, RA Hegele, Hutchinson-Gilford progeria syndrome Clinical Genetics. ,vol. 66, pp. 375- 381 ,(2004) , 10.1111/J.1399-0004.2004.00315.X
Maria Eriksson, W. Ted Brown, Leslie B. Gordon, Michael W. Glynn, Joel Singer, Laura Scott, Michael R. Erdos, Christiane M. Robbins, Tracy Y. Moses, Peter Berglund, Amalia Dutra, Evgenia Pak, Sandra Durkin, Antonei B. Csoka, Michael Boehnke, Thomas W. Glover, Francis S. Collins, Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome Nature. ,vol. 423, pp. 293- 298 ,(2003) , 10.1038/NATURE01629
Paola Scaffidi, Tom Misteli, Reversal of the cellular phenotype in the premature aging disease Hutchinson-Gilford progeria syndrome Nature Medicine. ,vol. 11, pp. 440- 445 ,(2005) , 10.1038/NM1204
Brian Burke, Colin L. Stewart, Life at the edge: the nuclear envelope and human disease Nature Reviews Molecular Cell Biology. ,vol. 3, pp. 575- 585 ,(2002) , 10.1038/NRM879
David B. Lombard, Katrin F. Chua, Raul Mostoslavsky, Sonia Franco, Monica Gostissa, Frederick W. Alt, DNA Repair, Genome Stability, and Aging Cell. ,vol. 120, pp. 497- 512 ,(2005) , 10.1016/J.CELL.2005.01.028
Annachiara De Sandre-Giovannoli, Malika Chaouch, Serguei Kozlov, Jean-Michel Vallat, Meriem Tazir, Nadia Kassouri, Pierre Szepetowski, Tarik Hammadouche, Antoon Vandenberghe, Colin L. Stewart, Djamel Grid, Nicolas Lévy, 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. American Journal of Human Genetics. ,vol. 70, pp. 726- 736 ,(2002) , 10.1086/339274
Baohua Liu, Jianming Wang, Kui Ming Chan, Wai Mui Tjia, Wen Deng, Xinyuan Guan, Jian-dong Huang, Kai Man Li, Pui Yin Chau, David J Chen, Duanqing Pei, Alberto M Pendas, Juan Cadiñanos, Carlos López-Otín, Hung Fat Tse, Chris Hutchison, Junjie Chen, Yihai Cao, Kathryn S E Cheah, Karl Tryggvason, Zhongjun Zhou, Genomic instability in laminopathy-based premature aging Nature Medicine. ,vol. 11, pp. 780- 785 ,(2005) , 10.1038/NM1266
Robert D. Goldman, Dale K. Shumaker, Michael R. Erdos, Maria Eriksson, Anne E. Goldman, Leslie B. Gordon, Yosef Gruenbaum, Satya Khuon, Melissa Mendez, Renée Varga, Francis S. Collins, Accumulation of mutant lamin A causes progressive changes in nuclear architecture in Hutchinson-Gilford progeria syndrome. Proceedings of the National Academy of Sciences of the United States of America. ,vol. 101, pp. 8963- 8968 ,(2004) , 10.1073/PNAS.0402943101
Claire L. Navarro, Annachiara De Sandre-Giovannoli, Rafaëlle Bernard, Irène Boccaccio, Amandine Boyer, David Geneviève, Smail Hadj-Rabia, Caroline Gaudy-Marqueste, Henk Sillevis Smitt, Pierre Vabres, Laurence Faivre, Alain Verloes, Ton Van Essen, Elisabeth Flori, Raoul Hennekam, Frits A. Beemer, Nicole Laurent, Martine Le Merrer, Pierre Cau, Nicolas Lévy, Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy Human Molecular Genetics. ,vol. 13, pp. 2493- 2503 ,(2004) , 10.1093/HMG/DDH265
A. K. Agarwal, Zinc metalloproteinase, ZMPSTE24, is mutated in mandibuloacral dysplasia. Human Molecular Genetics. ,vol. 12, pp. 1995- 2001 ,(2003) , 10.1093/HMG/DDG213