| First Author | Zhang H | Year | 2013 |
| Journal | Aging Cell | Volume | 12 |
| Issue | 1 | Pages | 2-10 |
| PubMed ID | 23095062 | Mgi Jnum | J:218148 |
| Mgi Id | MGI:5616720 | Doi | 10.1111/acel.12021 |
| Citation | Zhang H, et al. (2013) Mouse models of laminopathies. Aging Cell 12(1):2-10 |
| abstractText | 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. |
