Centronuclear myopathies under attack: A plethora of therapeutic targets

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Centronuclear myopathies under attack: A plethora of therapeutic targets

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scientific article published on 01 January 2018

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wetenschappelijk artikel

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наукова стаття, опублікована у 2018

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Centronuclear myopathies under attack: A plethora of therapeutic targets

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Centronuclear myopathies under attack: A plethora of therapeutic targets

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Centronuclear myopathies under attack: A plethora of therapeutic targets

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Centronuclear myopathies under attack: A plethora of therapeutic targets

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Centronuclear myopathies under attack: A plethora of therapeutic targets

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Centronuclear myopathies under attack: A plethora of therapeutic targets

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P1476

Centronuclear myopathies under attack: A plethora of therapeutic targets

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P2093

Hichem Tasfaout

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Jocelyn Laporte

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Creative Commons Attribution-NonCommercial 4.0 License

P2860

A mutation in the myostatin gene increases muscle mass and enhances racing performance in heterozygote dogs

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

Dominant mutation of CCDC78 in a unique congenital myopathy with prominent internal nuclei and atypical cores

Dynamin GTPase regulation is altered by PH domain mutations found in centronuclear myopathy patients

Myostatin mutation associated with gross muscle hypertrophy in a child

Direct dynamin-actin interactions regulate the actin cytoskeleton.

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

A novel PtdIns3P and PtdIns(3,5)P2 phosphatase with an inactivating variant in centronuclear myopathy

Myotubularin controls desmin intermediate filament architecture and mitochondrial dynamics in human and mouse skeletal muscle.

The myotubularin-amphiphysin 2 complex in membrane tubulation and centronuclear myopathies

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387-406

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scholarly article

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10.3233/JND-180309

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English

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Belinda Cowling

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ScienceSource

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2018-01-01T00:00:00Z

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30103348

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centronuclear myopathy

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6218136

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