Nesprin-1/2: roles in nuclear envelope organisation, myogenesis and muscle disease

Biochemical Society Transactions
Can ZhouQiuping Zhang

Abstract

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.

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Apr 2, 2020·Cells·Daniel J OwensCatherine Coirault
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Jul 6, 2021·Frontiers in Cell and Developmental Biology·Yu-Long LiDe-Li Shi
Aug 10, 2021·Frontiers in Cell and Developmental Biology·Maria J A van Ingen, Tyler J Kirby

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