NDLI: Emery-Dreifuss muscular dystrophy at the nuclear envelope: 10 years on

Content Provider	Springer Nature Link
Author	Ellis, J. A.
Copyright Year	2006
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.
Starting Page	2702
Ending Page	2709
Page Count	8
File Format	PDF
ISSN	1420682X
Journal	Cellular and Molecular Life Sciences
Volume Number	63
Issue Number	23
e-ISSN	14209071
Language	English
Publisher	Birkhäuser-Verlag
Publisher Date	2006-09-29
Publisher Place	Basel
Access Restriction	Subscribed
Subject Keyword	Emerin Emery-Dreifuss muscular dystrophy lamin A laminopathies Biomedicine general Life Sciences Biochemistry Cell Biology
Content Type	Text
Resource Type	Article
Subject	Cell Biology Molecular Biology Molecular Medicine Pharmacology Cellular and Molecular Neuroscience

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Both emerin and lamin C depend on lamin A for localization at the nuclear envelope

Nuclear envelope defects associated with LMNA mutations cause dilated cardiomyopathy and Emery-Dreifuss muscular dystrophy

Interaction between Emerin and Nuclear Lamins

Invertebrate models of lamin diseases

Identification of an emerin–β-catenin complex in the heart important for intercalated disc architecture and β-catenin localisation

The cell cycle dependent mislocalisation of emerin may contribute to the Emery-Dreifuss muscular dystrophy phenotype

Multiple roles for emerin: Implications for Emery-Dreifuss muscular dystrophy

The expression, lamin-dependent localization and RNAi depletion phenotype for emerin in C. elegans

Muscle development, regeneration and laminopathies: how lamins or lamina-associated proteins can contribute to muscle development, regeneration and disease

Emery-Dreifuss muscular dystrophy at the nuclear envelope: 10 years on

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Both emerin and lamin C depend on lamin A for localization at the nuclear envelope

Nuclear envelope defects associated with LMNA mutations cause dilated cardiomyopathy and Emery-Dreifuss muscular dystrophy

Interaction between Emerin and Nuclear Lamins

Invertebrate models of lamin diseases

Identification of an emerin–β-catenin complex in the heart important for intercalated disc architecture and β-catenin localisation

The cell cycle dependent mislocalisation of emerin may contribute to the Emery-Dreifuss muscular dystrophy phenotype

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Emery-Dreifuss muscular dystrophy at the nuclear envelope: 10 years on