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.
Publication types
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Research Support, N.I.H., Extramural
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Research Support, Non-U.S. Gov't
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Review
MeSH terms
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Animals
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Cell Nucleus / chemistry*
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Cell Nucleus / metabolism
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Cell Nucleus / physiology*
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Humans
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Membrane Proteins / physiology*
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Muscular Dystrophy, Emery-Dreifuss / genetics*
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Muscular Dystrophy, Emery-Dreifuss / metabolism*
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Muscular Dystrophy, Emery-Dreifuss / pathology
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Muscular Dystrophy, Emery-Dreifuss / physiopathology
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Nuclear Proteins / physiology*
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Organ Specificity / genetics
Substances
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Membrane Proteins
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Nuclear Proteins
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emerin