| Literature DB >> 11901143 |
Sirano Dhe-Paganon1, Eric D Werner, Young-In Chi, Steven E Shoelson.
Abstract
The nuclear lamins form a two-dimensional matrix that provides integrity to the cell nucleus and participates in nuclear activities. Mutations in the region of human LMNA encoding the carboxyl-terminal tail Lamin A/C are associated with forms of muscular dystrophy and familial partial lipodystrophy (FPLD). To help discriminate tissue-specific phenotypes, we have solved at 1.4-A resolution the three-dimensional crystal structure of the lamin A/C globular tail. The domain adopts a novel, all beta immunoglobulin-like fold. FPLD-associated mutations cluster within a small surface, whereas muscular dystrophy-associated mutations are distributed throughout the protein core and on its surface. These findings distinguish myopathy- and lipodystrophy-associated mutations and provide a structural framework for further testing hypotheses concerning lamin function.Entities:
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Year: 2002 PMID: 11901143 DOI: 10.1074/jbc.C200038200
Source DB: PubMed Journal: J Biol Chem ISSN: 0021-9258 Impact factor: 5.157