期刊
BIOCHEMICAL SOCIETY TRANSACTIONS
卷 46, 期 -, 页码 311-320出版社
PORTLAND PRESS LTD
DOI: 10.1042/BST20170149
关键词
-
资金
- British Heart Foundation (BHF) [PG/11/58/29004, RG/11/14/29056]
- National Natural Science Foundation of China [81270289]
- British Heart Foundation [PG/11/58/29004, RG/11/14/29056] Funding Source: researchfish
Nesprins (nuclear envelope spectrin repeat proteins) are multi-isomeric scaffolding proteins. Nesprin-1 and -2 are highly expressed in skeletal and cardiac muscles and together with SUN (Sad1p/UNC84) domain-containing proteins form the LInker of Nucleoskeleton and Cytoskeleton (LINC) complex at the nuclear envelope in association with lamin A/C and emerin. Mutations in nesprin-1/2 have been found in patients with autosomal dominant Emery-Dreifuss muscular dystrophy (EDMD) as well as dilated cardiomyopathy (DCM). Several lines of evidence indicate that compromised LINC complex function is the critical step leading to muscle disease. Here, we review recent advances in our understanding of the functions of nesprin-1/2 in the LINC complex and mechanistic insights into how mutations in nesprin-1/2 lead to nesprin-related muscle diseases, in particular DCM and EDMD.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据