(Q24305126)

GOA release 2020-03-11

centronuclear myopathy

1 reference

10

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Jean-Louis Mandel

9

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Nicolas Dondaine

7

object named as

Nicolas Dondaine

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Hélène Tronchère

3

object named as

Hélène Tronchère

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author name string

Valérie Tosch

1

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Holger M Rohde

2

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Edmar Zanoteli

4

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Nancy Monroy

5

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Christine Kretz

6

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Bernard Payrastre

Functional redundancy in the myotubularin family

8

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language of work or name

English

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publication date

1 November 2006

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published in

Human Molecular Genetics

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volume

15

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issue

21

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page(s)

3098-106

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cites work

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL250

7 January 2021

The I.M.A.G.E. Consortium: an integrated molecular analysis of genomes and their expression

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL250

7 January 2021

Protein tyrosine phosphatases in the human genome

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL250

7 January 2021

Computational analysis of protein tyrosine phosphatases: practical guide to bioinformatics and data resources

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL250

7 January 2021

Phosphoinositide signaling disorders in human diseases

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL250

7 January 2021

Centronuclear myopathy: clinical aspects of ten Brazilian patients with childhood onset

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL250

7 January 2021

Daughter of sevenless is a substrate of the phosphotyrosine phosphatase Corkscrew and functions during sevenless signaling

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL250

7 January 2021

Form and function in protein dephosphorylation

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL250

7 January 2021

Phosphoinositides: key players in cell signalling, in time and space.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL250

7 January 2021

Lipids in endocytic membrane transport and sorting

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL250

7 January 2021

Characterization of MTMR3. an inositol lipid 3-phosphatase with novel substrate specificity

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL250

7 January 2021

PTEN and myotubularin phosphatases: from 3-phosphoinositide dephosphorylation to disease

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL250

7 January 2021

Crystal structure of a phosphoinositide phosphatase, MTMR2: insights into myotubular myopathy and Charcot-Marie-Tooth syndrome

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL250

7 January 2021

Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL250

7 January 2021

Subversion of phosphoinositide metabolism by intracellular bacterial pathogens

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL250

7 January 2021

A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL250

7 January 2021

Mutations in dynamin 2 cause dominant centronuclear myopathy

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL250

7 January 2021

A novel egg-derived tyrosine phosphatase, EDTP, that participates in the embryogenesis of Sarcophaga peregrina (flesh fly).

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL250

7 January 2021

Spatio-temporal analysis of gene expression during aging in Drosophila melanogaster.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL250

7 January 2021

Protein-lipid interactions and phosphoinositide metabolism in membrane traffic: insights from vesicle recycling in nerve terminals

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL250

7 January 2021

Identification of myotubularin as the lipid phosphatase catalytic subunit associated with the 3-phosphatase adapter protein, 3-PAP

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL250

7 January 2021

Myotubularin, a protein tyrosine phosphatase mutated in myotubular myopathy, dephosphorylates the lipid second messenger, phosphatidylinositol 3-phosphate

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL250

7 January 2021

Development of "substrate-trapping" mutants to identify physiological substrates of protein tyrosine phosphatases

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL250

7 January 2021

Myotubularin and MTMR2, phosphatidylinositol 3-phosphatases mutated in myotubular myopathy and type 4B Charcot-Marie-Tooth disease

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL250

7 January 2021

Production of phosphatidylinositol 5-phosphate by the phosphoinositide 3-phosphatase myotubularin in mammalian cells

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL250

7 January 2021

Myotubularin regulates the function of the late endosome through the gram domain-phosphatidylinositol 3,5-bisphosphate interaction

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL250

7 January 2021

Mutations in MTMR13, a new pseudophosphatase homologue of MTMR2 and Sbf1, in two families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease associated with early-onset glaucoma

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL250

7 January 2021

Localization of phosphatidylinositol 3-phosphate in yeast and mammalian cells

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL250

7 January 2021

Insulin induces phosphatidylinositol-3-phosphate formation through TC10 activation.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL250

7 January 2021

Loss of phosphatase activity in myotubularin-related protein 2 is associated with Charcot-Marie-Tooth disease type 4B1.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL250

7 January 2021

Mutations in the MTM1 gene implicated in X-linked myotubular myopathy. ENMC International Consortium on Myotubular Myopathy. European Neuro-Muscular Center

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL250

7 January 2021

Mutation of the SBF2 gene, encoding a novel member of the myotubularin family, in Charcot-Marie-Tooth neuropathy type 4B2/11p15.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL250

7 January 2021

Myotubularins, a large disease-associated family of cooperating catalytically active and inactive phosphoinositides phosphatases

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL250

7 January 2021

Myotubularin, a phosphatase deficient in myotubular myopathy, acts on phosphatidylinositol 3-kinase and phosphatidylinositol 3-phosphate pathway

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL250

7 January 2021

X-linked myotubular and centronuclear myopathies

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL250

7 January 2021

The phosphoinositide 3-kinase pathway

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL250

7 January 2021

Role for the pleckstrin homology domain-containing protein CKIP-1 in phosphatidylinositol 3-kinase-regulated muscle differentiation.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL250

7 January 2021

The myotubular myopathies: differential diagnosis of the X linked recessive, autosomal dominant, and autosomal recessive forms and present state of DNA studies

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL250

7 January 2021

Turning signals on and off: GLUT4 traffic in the insulin-signaling highway

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL250

7 January 2021

Expression of myotubularin by an adenoviral vector demonstrates its function as a phosphatidylinositol 3-phosphate [PtdIns(3)P] phosphatase in muscle cell lines: involvement of PtdIns(3)P in insulin-stimulated glucose transport

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL250

7 January 2021

Clinical and histologic findings in autosomal centronuclear myopathy

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL250

7 January 2021

Protein kinase B phosphorylation of PIKfyve regulates the trafficking of GLUT4 vesicles.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL250

7 January 2021

Analysis of phosphoinositide binding domain properties within the myotubularin-related protein MTMR3.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL250

7 January 2021

[Myotubular myopathy: clinical, electrophysiological and histological study of a case]

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL250

7 January 2021