Mutations in genes encoding the nuclear envelope proteins emerin and lamin A/C lead to a range of tissue-specific degenerative diseases. These include dilated cardiomyopathy, limb-girdle muscular dystrophy and X-linked and autosomal dominant EDMD (Emery–Dreifuss muscular dystrophy). The molecular mechanisms underlying these disorders are poorly understood; however, recent work using animal models has identified a number of signalling pathways that are altered in response to the deletion of either emerin or lamin A/C or expression of Lmna mutants found in patients with laminopathies. A distinguishing feature of patients with EDMD is the association of a dilated cardiomyopathy with conduction defects. In the present article, we describe several of the pathways altered in response to an EDMD phenotype, which are known to be key mediators of hypertrophic growth, and focus on a possible role of an emerin–β-catenin interaction in the pathogenesis of this disease.
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December 2008
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Conference Article|
November 19 2008
Molecular signatures of Emery–Dreifuss muscular dystrophy
Matthew A. Wheeler;
Matthew A. Wheeler
1
1Randall Division of Cell and Molecular Biophysics, King's College, New Hunt's House, Guy's Campus, London SE1 1UL, U.K.
1To whom correspondence should be addressed (email matthew.a.wheeler@kcl.ac.uk).
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Juliet A. Ellis
Juliet A. Ellis
1Randall Division of Cell and Molecular Biophysics, King's College, New Hunt's House, Guy's Campus, London SE1 1UL, U.K.
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Publisher: Portland Press Ltd
Received:
July 08 2008
Online ISSN: 1470-8752
Print ISSN: 0300-5127
© The Authors Journal compilation © 2008 Biochemical Society
2008
Biochem Soc Trans (2008) 36 (6): 1354–1358.
Article history
Received:
July 08 2008
Citation
Matthew A. Wheeler, Juliet A. Ellis; Molecular signatures of Emery–Dreifuss muscular dystrophy. Biochem Soc Trans 1 December 2008; 36 (6): 1354–1358. doi: https://doi.org/10.1042/BST0361354
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