Journal
MECHANISMS OF AGEING AND DEVELOPMENT
Volume 126, Issue 4, Pages 447-460Publisher
ELSEVIER IRELAND LTD
DOI: 10.1016/j.mad.2004.10.006
Keywords
lamin; progeria; nuclear organization; dystrophic syndromes
Categories
Funding
- NIA NIH HHS [P30 AG013280, R01AG024287] Funding Source: Medline
- NIGMS NIH HHS [T32 GM07270] Funding Source: Medline
Ask authors/readers for more resources
Nuclear lamins were identified as core nuclear matrix constituents over 20 years ago. They have been ascribed structural roles such as maintaining nuclear integrity and assisting in nuclear envelope formation after mitosis, and have also been linked to nuclear activities including DNA replication and transcription. Recently, A-type lamin mutations have been linked to a variety of rare human diseases including muscular dystrophy, lipodystrophy, cardiomyopathy, neuropathy and progeroid syndromes (collectively termed laminopathies). Most diseases arise from dominant, missense mutations, leading to speculation as to how different mutations in the same gene can give rise to such a diverse set of diseases, some of which share little phenotypic overlap. Understanding the cellular dysfunctions that lead to laminopathies will almost certainly provide insight into specific roles of A-type lamins in nuclear organization. Here, we compare and contrast the LMNA mutations leading to laminopathies with emphasis on progerias, and discuss possible functional roles for A-type lamins in the maintenance of healthy tissues. (c) 2004 Elsevier Ireland Ltd. All rights reserved.
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available