Multiple roles for emerin: implications for Emery-Dreifuss muscular dystrophy.
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.
Holaska
James M
JM
Department of Cell Biology, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, USA.
Wilson
Katherine L
KL
D000818:Animals; D002467:Cell Nucleus / Q000737:chemistry* / Q000378:metabolism / Q000502:physiology*; D006801:Humans; D008565:Membrane Proteins / Q000502:physiology*; D020389:Muscular Dystrophy, Emery-Dreifuss / Q000235:genetics* / Q000378:metabolism* / Q000473:pathology / Q000503:physiopathology; D009687:Nuclear Proteins / Q000502:physiology*; D009928:Organ Specificity / Q000235:genetics
D008565:Membrane Proteins; D009687:Nuclear Proteins; C092710:emerin