Aging Cell | |
Mouse models of laminopathies | |
Haoyue Zhang1  Julia E. Kieckhaefer1  | |
[1] Department of Cell Biology and Molecular Genetics, University of Maryland, College Park, USA | |
关键词: aging; farnesylation; lamin A; laminopathies; progeria; | |
DOI : 10.1111/acel.12021 | |
来源: Wiley | |
【 摘 要 】
The A- and B-type lamins are nuclear intermediate filament proteins in eukaryotic cells with a broad range of functions, including the organization of nuclear architecture and interaction with proteins in many cellular functions. Over 180 disease-causing mutations, termed ‘laminopathies,’ have been mapped throughout LMNA, the gene for A-type lamins in humans. Laminopathies can range from muscular dystrophies, cardiomyopathy, to Hutchinson–Gilford progeria syndrome. A number of mouse lines carrying some of the same mutations as those resulting in human diseases have been established. These LMNA-related mouse models have provided valuable insights into the functions of lamin A biogenesis and the roles of individual A-type lamins during tissue development. This review groups these LMNA-related mouse models into three categories: null mutants, point mutants, and progeroid mutants. We compare their phenotypes and discuss their potential implications in laminopathies and aging.Abstract
【 授权许可】
Unknown
© 2012 The Authors Aging Cell © 2012 Blackwell Publishing Ltd/Anatomical Society of Great Britain and Ireland
【 预 览 】
Files | Size | Format | View |
---|---|---|---|
RO202107150000022ZK.pdf | 292KB | download |