作者: Ji-Yeon Shin , William T. Dauer , Howard J. Worman
DOI: 10.1016/J.SEMCDB.2014.01.010
关键词: Inner membrane 、 Cell biology 、 Nuclear lamina 、 Biology 、 Lamin 、 Nucleoporin 、 Emerin 、 Membrane protein 、 Molecular biology 、 Nuclear membrane 、 Nuclear protein
摘要: Mutations in genes encoding widely expressed nuclear envelope proteins often lead to diseases that manifest specific tissues. Lamina-associated polypeptide 1 (LAP1) is an integral protein of the inner membrane most cells and Within envelope, LAP1 interacts physically with lamins, torsinA emerin, suggesting it may serve as a key node for transducing signals across membrane. Indeed, recent vivo studies genetically modified mice strongly support functional links between both (in neurons) emerin muscle). These suggest tissue-selective caused by mutations result, at least part, from selective disruption discrete complexes.