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Emerin in health and disease - PubMed

Review

Emerin in health and disease

Adam J Koch et al. Semin Cell Dev Biol. 2014 May.

Abstract

Emery-Dreifuss muscular dystrophy (EDMD) is caused by mutations in the genes encoding emerin, lamins A and C and FHL1. Additional EDMD-like syndromes are caused by mutations in nesprins and LUMA. This review will specifically focus on emerin function and the current thinking for how loss or mutations in emerin cause EDMD. Emerin is a well-conserved, ubiquitously expressed protein of the inner nuclear membrane. Emerin has been shown to have diverse functions, including the regulation of gene expression, cell signaling, nuclear structure and chromatin architecture. This review will focus on the relationships between these functions and the EDMD disease phenotype. Additionally it will highlight open questions concerning emerin's roles in cell and nuclear biology and disease.

Keywords: Emerin; Emery-Dreifuss muscular dystrophy; Lamina; Laminopathies; Lamins A/C; Nuclear envelope.

Copyright © 2014 Elsevier Ltd. All rights reserved.

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Figures

Fig. 1
Fig. 1

Important regions of the emerin protein. LEM, Lap2, emerin, MAN1 domain; RBD, regulator binding domain; NE, nuclear envelope; APC-L, adenomatous polyposis coli-like domain; TM, transmembrane domain.

Fig. 2
Fig. 2

(A) Emerin regulates a number of cellular pathways by acting directly or indirectly with key players in these pathways. (B) Schematic representation of selected emerin protein-protein interactions and their effects on transcription and nucleocytoplasmic transport to regulate gene expression.

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