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Emery-Dreifuss muscular dystrophy at the nuclear envelope: 10 years on.
Cell Mol Life Sci. 2006 Dec; 63(23):2702-9.CM

Abstract

Emery-Dreifuss muscular dystrophy (EDMD) is a neuromuscular degenerative condition with an associated dilated cardiomyopathy and cardiac conduction defect. It can be inherited in either an X-linked or autosomal manner by mutations in the nuclear proteins emerin and lamin A/C, respectively. Traditionally muscular dystrophies were associated with defects in sarcolemma-associated proteins and, therefore, a nuclear connection suggested the existence of novel signalling pathways associated with this group of diseases. Subsequently, other mutations in the lamin A/C gene were attributed to a range of tissue-specific degenerative conditions, collectively known as the 'laminopathies'. Therefore, any proposed hypothesis underlying the molecular mechanism of EDMD needs to include this anomaly. As we celebrate the 10th anniversary of the identification of emerin as a component of the nuclear envelope, I discuss here the available evidence that currently implicates EDMD as arising from perturbations in myogenic regulatory pathways, causing temporal delays in both cell cycle progression and muscle regeneration.

Authors+Show Affiliations

The Randall Division of Cell and Molecular Biophysics, King's College, New Hunts House, Guy's Campus, London, UK. juliet.ellis@kcl.ac.uk

Pub Type(s)

Journal Article
Review

Language

eng

PubMed ID

17013557

Citation

Ellis, J A.. "Emery-Dreifuss Muscular Dystrophy at the Nuclear Envelope: 10 Years On." Cellular and Molecular Life Sciences : CMLS, vol. 63, no. 23, 2006, pp. 2702-9.
Ellis JA. Emery-Dreifuss muscular dystrophy at the nuclear envelope: 10 years on. Cell Mol Life Sci. 2006;63(23):2702-9.
Ellis, J. A. (2006). Emery-Dreifuss muscular dystrophy at the nuclear envelope: 10 years on. Cellular and Molecular Life Sciences : CMLS, 63(23), 2702-9.
Ellis JA. Emery-Dreifuss Muscular Dystrophy at the Nuclear Envelope: 10 Years On. Cell Mol Life Sci. 2006;63(23):2702-9. PubMed PMID: 17013557.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Emery-Dreifuss muscular dystrophy at the nuclear envelope: 10 years on. A1 - Ellis,J A, PY - 2006/10/3/pubmed PY - 2007/2/3/medline PY - 2006/10/3/entrez SP - 2702 EP - 9 JF - Cellular and molecular life sciences : CMLS JO - Cell Mol Life Sci VL - 63 IS - 23 N2 - Emery-Dreifuss muscular dystrophy (EDMD) is a neuromuscular degenerative condition with an associated dilated cardiomyopathy and cardiac conduction defect. It can be inherited in either an X-linked or autosomal manner by mutations in the nuclear proteins emerin and lamin A/C, respectively. Traditionally muscular dystrophies were associated with defects in sarcolemma-associated proteins and, therefore, a nuclear connection suggested the existence of novel signalling pathways associated with this group of diseases. Subsequently, other mutations in the lamin A/C gene were attributed to a range of tissue-specific degenerative conditions, collectively known as the 'laminopathies'. Therefore, any proposed hypothesis underlying the molecular mechanism of EDMD needs to include this anomaly. As we celebrate the 10th anniversary of the identification of emerin as a component of the nuclear envelope, I discuss here the available evidence that currently implicates EDMD as arising from perturbations in myogenic regulatory pathways, causing temporal delays in both cell cycle progression and muscle regeneration. SN - 1420-682X UR - https://www.unboundmedicine.com/medline/citation/17013557/Emery_Dreifuss_muscular_dystrophy_at_the_nuclear_envelope:_10_years_on_ L2 - https://doi.org/10.1007/s00018-006-6247-8 DB - PRIME DP - Unbound Medicine ER -