Disruption of nesprin-1 produces an Emery Dreifuss muscular dystrophy-like phenotype in mice. (Q37292920)

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17 January 2020

title

Disruption of nesprin-1 produces an Emery Dreifuss muscular dystrophy-like phenotype in mice (English)

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17 January 2020

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3

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17 January 2020

James M Holaska

9

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17 January 2020

author name string

Megan J Puckelwartz

1

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17 January 2020

Eric Kessler

2

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17 January 2020

Didier Hodzic

4

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17 January 2020

K Natalie Randles

5

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17 January 2020

Glenn Morris

6

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17 January 2020

Judy U Earley

7

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17 January 2020

Michele Hadhazy

8

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17 January 2020

Stephanie K Mewborn

10

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17 January 2020

Peter Pytel

11

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17 January 2020

Elizabeth M McNally

12

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17 January 2020

publication date

13 November 2008

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17 January 2020

published in

Human Molecular Genetics

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17 January 2020

volume

18

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issue

4

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17 January 2020

page(s)

607-620

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describes a project that uses

17 January 2020

ImageJ

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11 June 2022

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inferred from PubMed Central ID database lookup

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108th ENMC International Workshop, 3rd Workshop of the MYO-CLUSTER project: EUROMEN, 7th International Emery-Dreifuss Muscular Dystrophy (EDMD) Workshop, 13-15 September 2002, Naarden, The Netherlands

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Functional consequences of an LMNA mutation associated with a new cardiac and non-cardiac phenotype

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Nesprin-1alpha self-associates and binds directly to emerin and lamin A in vitro

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Episodic coronary artery vasospasm and hypertension develop in the absence of Sur2 K(ATP) channels

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Loss of A-type lamin expression compromises nuclear envelope integrity leading to muscular dystrophy

6 September 2017

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Nesprin-1 and -2 are involved in the pathogenesis of Emery Dreifuss muscular dystrophy and are critical for nuclear envelope integrity

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Crossref

https://api.crossref.org/works/10.1093%2FHMG%2FDDN386

Skeletal muscle pathology in autosomal dominant Emery-Dreifuss muscular dystrophy with lamin A/C mutations

21 January 2018

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Crossref

https://api.crossref.org/works/10.1093%2FHMG%2FDDN386

Mouse model carrying H222P- Lmna mutation develops muscular dystrophy and dilated cardiomyopathy similar to human striated muscle laminopathies

21 January 2018

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12 December 2020

Pathology and nuclear abnormalities in hearts of transgenic mice expressing M371K lamin A encoded by an LMNA mutation causing Emery-Dreifuss muscular dystrophy

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12 December 2020

A novel mutation in the central rod domain of lamin A/C producing a phenotype resembling the Emery–Dreifuss muscular dystrophy phenotype

1 reference

12 December 2020

Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene

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12 December 2020

Expression of lamin A mutated in the carboxyl-terminal tail generates an aberrant nuclear phenotype similar to that observed in cells from patients with Dunnigan-type partial lipodystrophy and Emery-Dreifuss muscular dystrophy

1 reference

12 December 2020

Identifiers

DOI

10.1093/HMG/DDN386

1 reference

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17 January 2020

1 reference

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17 January 2020

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