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Nesprins in health and disease.

Cartwright, S.; Karakesisoglou, I.

Authors

S. Cartwright



Abstract

LINC (Linker of Nucleoskeleton and Cytoskeleton) complex is an evolutionary conserved structure that spans the entire nuclear envelope (NE), and integrates the nuclear interior with the cytoskeleton, in order to support a diverse array of fundamental biological processes. Key components of the LINC complex are the nesprins (Nuclear Envelope SPectrin Repeat proteINS) that were initially described as large integral NE proteins. However, nesprin genes are complex and generate many variants, which occupy various sub-cellular compartments suggesting additional functions. Hence, the potential involvement of nesprins in disease has expanded immensely on what we already know. That is, nesprins are implicated in diseases such as cancer, myopathies, arthrogryposis, neurological disorders and hearing loss. Here we review nesprins by providing an in depth account of their structure, molecular interactions and cellular functions with relevance to their potential roles in disease. Specifically, we speculate about possible pathomechanisms underlying nesprin-associated diseases.

Citation

Cartwright, S., & Karakesisoglou, I. (2014). Nesprins in health and disease. Seminars in Cell and Developmental Biology, 29, 169-179. https://doi.org/10.1016/j.semcdb.2013.12.010

Journal Article Type Article
Online Publication Date Dec 25, 2013
Publication Date 2014-05
Deposit Date Jul 10, 2014
Journal Seminars in Cell and Developmental Biology
Print ISSN 1084-9521
Publisher Elsevier
Volume 29
Pages 169-179
DOI https://doi.org/10.1016/j.semcdb.2013.12.010
Keywords Ageing; Cancer; Cerebellar ataxia; LINC complex; Nesprin; SUN-domain proteins