| Literature DB >> 24508913 |
Ji-Yeon Shin1, William T Dauer2, Howard J Worman3.
Abstract
Mutations in genes encoding widely expressed nuclear envelope proteins often lead to diseases that manifest in specific tissues. Lamina-associated polypeptide 1 (LAP1) is an integral protein of the inner nuclear membrane that is expressed in most cells and tissues. Within the nuclear envelope, LAP1 interacts physically with lamins, torsinA and emerin, suggesting it may serve as a key node for transducing signals across the inner nuclear membrane. Indeed, recent in vivo studies in genetically modified mice strongly support functional links between LAP1 and both torsinA (in neurons) and emerin (in muscle). These studies suggest that tissue-selective diseases caused by mutations in genes encoding nuclear envelope proteins may result, at least in part, from the selective disruption of discrete nuclear envelope protein complexes.Entities:
Keywords: Dystonia; Lamin; Muscular dystrophy; Nuclear envelope; Nuclear membrane
Mesh:
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Year: 2014 PMID: 24508913 PMCID: PMC4040325 DOI: 10.1016/j.semcdb.2014.01.010
Source DB: PubMed Journal: Semin Cell Dev Biol ISSN: 1084-9521 Impact factor: 7.727