Mouse models of nesprin-related diseases

Zhou, Can, Rao, Li, Warren, Derek T, Shanahan, Catherine M and Zhang, Qiuping (2018) Mouse models of nesprin-related diseases. Biochemical Society Transactions, 46 (3). pp. 669-681. ISSN 0300-5127

[thumbnail of Accepted manuscript]
PDF (Accepted manuscript) - Accepted Version
Download (1MB) | Preview


Nesprins (nuclear envelope spectrin repeat proteins) are a family of multi-isomeric scaffolding proteins. Nesprins form the LInker of Nucleoskeleton-and-Cytoskeleton (LINC) complex with SUN (Sad1p/UNC84) domain-containing proteins at the nuclear envelope, in association with lamin A/C and emerin, linking the nucleoskeleton to the cytoskeleton. The LINC complex serves as both a physical linker between the nuclear lamina and the cytoskeleton and a mechanosensor. The LINC complex has a broad range of functions and is involved in maintaining nuclear architecture, nuclear positioning and migration, and also modulating gene expression. Over 80 disease-related variants have been identified in SYNE-1/2 (nesprin-1/2) genes, which result in muscular or central nervous system disorders including autosomal dominant Emery–Dreifuss muscular dystrophy, dilated cardiomyopathy and autosomal recessive cerebellar ataxia type 1. To date, 17 different nesprin mouse lines have been established to mimic these nesprin-related human diseases, which have provided valuable insights into the roles of nesprin and its scaffold LINC complex in a tissue-specific manner. In this review, we summarise the existing nesprin mouse models, compare their phenotypes and discuss the potential mechanisms underlying nesprin-associated diseases.

Item Type: Article
Uncontrolled Keywords: sdg 3 - good health and well-being ,/dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_being
Faculty \ School: Faculty of Science > School of Pharmacy
UEA Research Groups: Faculty of Science > Research Groups > Molecular and Tissue Pharmacology
Related URLs:
Depositing User: LivePure Connector
Date Deposited: 27 Jun 2018 14:30
Last Modified: 22 Oct 2022 03:51
DOI: 10.1042/BST20180085


Downloads per month over past year

Actions (login required)

View Item View Item