(Q58124945)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20858595%20AND%20SRC:MED&resulttype=core&format=json

14 February 2020

title

A centronuclear myopathy-dynamin 2 mutation impairs skeletal muscle structure and function in mice (English)

1 reference

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14 February 2020

author

Stéphane Vassilopoulos

6

1 reference

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14 February 2020

Pascale Guicheney

11

1 reference

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14 February 2020

Marc Bitoun

12

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14 February 2020

3

Bernard Prudhon

1 reference

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14 February 2020

1

Anne-Cécile Durieux

1 reference

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14 February 2020

7

Bodvaël Fraysse

1 reference

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14 February 2020

5

Maud Beuvin

1 reference

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14 February 2020

8

Arnaud Ferry

1 reference

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14 February 2020

author name string

Alban Vignaud

2

1 reference

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14 February 2020

Mai Thao Viou

4

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14 February 2020

Jeanne Lainé

9

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14 February 2020

Norma B Romero

10

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14 February 2020

publication date

21 September 2010

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14 February 2020

published in

Human Molecular Genetics

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14 February 2020

volume

19

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14 February 2020

issue

24

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14 February 2020

page(s)

4820-4836

1 reference

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Centronuclear (myotubular) myopathy

14 February 2020

cites work

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ413

Mutations in dynamin 2 cause dominant centronuclear myopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ413

Characterization of the muscle involvement in dynamin 2-related centronuclear myopathy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ413

Centronuclear myopathies: a widening concept

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ413

Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ413

Expanding the clinical, pathological and MRI phenotype of DNM2-related centronuclear myopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ413

Identification of dynamin 2, an isoform ubiquitously expressed in rat tissues

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ413

The dynamin superfamily: universal membrane tubulation and fission molecules?

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ413

Dynamin 2 and human diseases.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ413

Dynamic instability of microtubules requires dynamin 2 and is impaired in a Charcot-Marie-Tooth mutant

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ413

Dynamin-mediated internalization of caveolae.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ413

Molecular mechanisms modulating muscle mass

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ413

Multiple types of skeletal muscle atrophy involve a common program of changes in gene expression

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ413

Rapid disuse and denervation atrophy involve transcriptional changes similar to those of muscle wasting during systemic diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ413

Signaling in muscle atrophy and hypertrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ413

Identification of ubiquitin ligases required for skeletal muscle atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ413

Foxo transcription factors induce the atrophy-related ubiquitin ligase atrogin-1 and cause skeletal muscle atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ413

FoxO3 coordinately activates protein degradation by the autophagic/lysosomal and proteasomal pathways in atrophying muscle cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ413

Calpain 3 participates in sarcomere remodeling by acting upstream of the ubiquitin-proteasome pathway.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ413

Activation of caspase-3 is an initial step triggering accelerated muscle proteolysis in catabolic conditions

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ413

Membrane traffic in skeletal muscle

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ413

Reorganization of microtubule nucleation during muscle differentiation

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ413

Fate of microtubule-organizing centers during myogenesis in vitro

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ413

Dynamin 2 mutants linked to centronuclear myopathies form abnormally stable polymers

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ413

Amphiphysin 2 (Bin1) and T-tubule biogenesis in muscle

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ413

Amphiphysin is necessary for organization of the excitation-contraction coupling machinery of muscles, but not for synaptic vesicle endocytosis in Drosophila

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ413

AAV-mediated intramuscular delivery of myotubularin corrects the myotubular myopathy phenotype in targeted murine muscle and suggests a function in plasma membrane homeostasis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ413

Loss of myotubularin function results in T-tubule disorganization in zebrafish and human myotubular myopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ413

T-tubule disorganization and defective excitation-contraction coupling in muscle fibers lacking myotubularin lipid phosphatase

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ413

Dysferlin in membrane trafficking and patch repair.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ413

Dysferlin in a hyperCKaemic patient with caveolin 3 mutation and in C2C12 cells after p38 MAP kinase inhibition

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ413

The sarcolemmal proteins dysferlin and caveolin-3 interact in skeletal muscle

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ413

Coordinated actions of actin and BAR proteins upstream of dynamin at endocytic clathrin-coated pits

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ413

Clathrin adaptor AP-2 is essential for early embryonal development.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ413

Physiological roles of clathrin adaptor AP complexes: lessons from mutant animals

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ413

A selective activity-dependent requirement for dynamin 1 in synaptic vesicle endocytosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ413

Interpreting neonatal lethal phenotypes in mouse mutants: insights into gene function and human diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ413

The alteration of calcium homeostasis in adult dystrophic mdx muscle fibers is worsened by a chronic exercise in vivo

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ413

Molecular and phenotypic characterization of a mouse model of oculopharyngeal muscular dystrophy reveals severe muscular atrophy restricted to fast glycolytic fibres

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ413

21 January 2018

Identifiers

DOI

10.1093/HMG/DDQ413

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20858595%20AND%20SRC:MED&resulttype=core&format=json

14 February 2020

1 reference