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2006•The Anatomical Record Part A Discoveries in Molecular Cellular and Evolutionary BiologyOpen access

Multiple roles for emerin: Implications for Emery‐Dreifuss muscular dystrophy

James M. Holaska, Katherine L. Wilson

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Abstract

X-linked Emery-Dreifuss muscular dystrophy (X-EDMD) is inherited through mutations in EMD, which encodes a nuclear membrane protein named emerin. Emerin is expressed in most cells, but EDMD strikes specific tissues. This review summarizes growing evidence that emerin has roles in both tissue-specific gene regulation and the mechanical integrity of the nucleus and discusses how these roles might impact EDMD.

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What this paper is about

X-linked Emery-Dreifuss muscular dystrophy (X-EDMD) is inherited through mutations in EMD, which encodes a nuclear membrane protein named emerin. Emerin is expressed in most cells, but EDMD strikes specific tissues. This review summarizes growing evidence that emerin has roles in both tissue-specific gene regulation and the mechanical integrity of the nucleus and discusses how these roles might impact EDMD.

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OpenAlex reports 71 citations for this work. Citation counts describe recorded attention and do not establish research quality.

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Available abstract

X-linked Emery-Dreifuss muscular dystrophy (X-EDMD) is inherited through mutations in EMD, which encodes a nuclear membrane protein named emerin. Emerin is expressed in most cells, but EDMD strikes specific tissues. This review summarizes growing evidence that emerin has roles in both tissue-specific gene regulation and the mechanical integrity of the nucleus and discusses how these roles might impact EDMD.

Key concepts: Emerin, Muscular dystrophy, Biology, Inner membrane, Genetics, Gene, Nuclear protein, Membrane

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