Nesprin-1 and -2 are involved in the pathogenesis of Emery Dreifuss muscular dystrophy and are critical for nuclear envelope integrity (Q40087014)

17 September 2017

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

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17 September 2017

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Jason A Mellad

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17 September 2017

Qiuping Zhang

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Cornelia Bethmann

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Nathalie F Worth

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John D Davies

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Christina Wasner

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Anja Feuer

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Cassandra D Ragnauth

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Qijian Yi

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Derek T Warren

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Matthew A Wheeler

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Juliet A Ellis

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Jeremy N Skepper

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Matthias Vorgerd

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Beate Schlotter-Weigel

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Peter L Weissberg

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Manfred Wehnert

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Catherine M Shanahan

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29 August 2007

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Human Molecular Genetics

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2816-2833

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Emery-Dreifuss muscular dystrophy - a 40 year retrospective

17 September 2017

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https://api.crossref.org/works/10.1093%2FHMG%2FDDM238

Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDM238

Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDM238

Human laminopathies: nuclei gone genetically awry

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDM238

Mutation analysis of the lamin A/C gene (LMNA) among patients with different cardiomuscular phenotypes

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDM238

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

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDM238

Nesprin-2 is a multi-isomeric protein that binds lamin and emerin at the nuclear envelope and forms a subcellular network in skeletal muscle

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDM238

The nesprins are giant actin-binding proteins, orthologous to Drosophila melanogaster muscle protein MSP-300

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDM238

Syne-1, a dystrophin- and Klarsicht-related protein associated with synaptic nuclei at the neuromuscular junction

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDM238

Nesprin-3, a novel outer nuclear membrane protein, associates with the cytoskeletal linker protein plectin

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDM238

Nesprins: intracellular scaffolds that maintain cell architecture and coordinate cell function?

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDM238

Enaptin, a giant actin-binding protein, is an element of the nuclear membrane and the actin cytoskeleton

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDM238

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

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDM238

Lamin A/C-dependent localization of Nesprin-2, a giant scaffolder at the nuclear envelope

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDM238

SUN-domain proteins: 'Velcro' that links the nucleoskeleton to the cytoskeleton

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDM238

Nuclear envelope alterations in fibroblasts from LGMD1B patients carrying nonsense Y259X heterozygous or homozygous mutation in lamin A/C gene.

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDM238

Distribution of emerin during the cell cycle

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDM238

Distinct functional domains in nesprin-1alpha and nesprin-2beta bind directly to emerin and both interactions are disrupted in X-linked Emery-Dreifuss muscular dystrophy

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDM238

The nuclear lamina comes of age.

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDM238

Decreased mechanical stiffness in LMNA-/- cells is caused by defective nucleo-cytoskeletal integrity: implications for the development of laminopathies.

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDM238

Abnormal nuclear shape and impaired mechanotransduction in emerin-deficient cells

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDM238

Both lamin A and lamin C mutations cause lamina instability as well as loss of internal nuclear lamin organization.

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDM238

Coupling of the nucleus and cytoplasm: role of the LINC complex

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDM238

The inner nuclear membrane protein Sun1 mediates the anchorage of Nesprin-2 to the nuclear envelope

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDM238

SUN1 interacts with nuclear lamin A and cytoplasmic nesprins to provide a physical connection between the nuclear lamina and the cytoskeleton

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDM238

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

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDM238

Demonstration of mechanical connections between integrins, cytoskeletal filaments, and nucleoplasm that stabilize nuclear structure

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDM238

Molecular mechanisms of muscular dystrophies: old and new players

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDM238

The inner nuclear membrane protein emerin regulates beta-catenin activity by restricting its accumulation in the nucleus

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDM238

Disease severity in dominant Emery Dreifuss is increased by mutations in both emerin and desmin proteins.

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDM238

Nesprin-1alpha contributes to the targeting of mAKAP to the cardiac myocyte nuclear envelope

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDM238

ANChors away: an actin based mechanism of nuclear positioning

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDM238

Syne proteins anchor muscle nuclei at the neuromuscular junction

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDM238

Mutations in SYNE1 lead to a newly discovered form of autosomal recessive cerebellar ataxia.

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDM238

Syne-1 and Syne-2 play crucial roles in myonuclear anchorage and motor neuron innervation

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDM238

21 January 2018

Identifiers

DOI

10.1093/HMG/DDM238

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17 September 2017

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