Multiple roles for emerin: Implications for Emery-Dreifuss muscular dystrophy
Multiple roles for emerin: Implications for Emery-Dreifuss muscular dystrophy
复制标题
DOI：
10.1002/ar.a.20334
复制
发表时间：
2006-07-01
期刊：
影响因子：
--
通讯作者：
Wilson, Katherine L.
中科院分区：
文献类型：
--
作者：
Holaska, James M.;Wilson, Katherine L.
X连锁埃默里-德赖富斯肌营养不良症（X-EDMD）是通过EMD突变遗传的，EMD编码一种名为emerin的核膜蛋白。Emerin在大多数细胞中表达，但EDMD攻击特定组织。这篇综述总结了越来越多的证据表明，emerin在组织特异性基因调控和细胞核的机械完整性中发挥作用，并讨论了这些作用如何影响EDMD。
X-linked Emery-Dreifuss muscular dystrophy (X-EDMD) is inherited through mutations in EMD, which encodes a nuclear membrane protein named emerin. Emerin is expressed in most cells, but EDMD strikes specific tissues. This review summarizes growing evidence that emerin has roles in both tissue-specific gene regulation and the mechanical integrity of the nucleus and discusses how these roles might impact EDMD.