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Article: Multiple roles for emerin: implications for Emery-Dreifuss muscular dystrophy.

Holaska, James M / Wilson, Katherine L

The anatomical record. Part A, Discoveries in molecular, cellular, and evolutionary biology

2006  Volume 288, Issue 7, Page(s) 676–680

Abstract: X-linked Emery-Dreifuss muscular dystrophy (X-EDMD) is inherited through mutations in EMD ... 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. ...

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.
MeSH term(s) Animals ; Cell Nucleus/chemistry ; Cell Nucleus/metabolism ; Cell Nucleus/physiology ; Humans ; Membrane Proteins/physiology ; Muscular Dystrophy, Emery-Dreifuss/genetics ; Muscular Dystrophy, Emery-Dreifuss/metabolism ; Muscular Dystrophy, Emery-Dreifuss/pathology ; Muscular Dystrophy, Emery-Dreifuss/physiopathology ; Nuclear Proteins/physiology ; Organ Specificity/genetics
Chemical Substances Membrane Proteins ; Nuclear Proteins ; emerin
Language English
Publishing date 2006-07
Publishing country United States
Document type Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't ; Review
ZDB-ID 2103089-3
ISSN 1552-4884 ; 0003-276X
ISSN 1552-4884 ; 0003-276X
DOI 10.1002/ar.a.20334
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