Nesprin-1/2: roles in nuclear envelope organisation, myogenesis and muscle disease.
Biochem Soc Trans
; 46(2): 311-320, 2018 04 17.
Article
em En
| MEDLINE
| ID: mdl-29487227
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.
Palavras-chave
Texto completo:
1
Bases de dados:
MEDLINE
Assunto principal:
Proteínas Nucleares
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Desenvolvimento Muscular
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Proteínas Musculares
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Doenças Musculares
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Membrana Nuclear
Limite:
Animals
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Humans
Idioma:
En
Revista:
Biochem Soc Trans
Ano de publicação:
2018
Tipo de documento:
Article
País de afiliação:
China