Phosphatase-dead myotubularin ameliorates X-linked centronuclear myopathy phenotypes in mice
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The myotubularin-amphiphysin 2 complex in membrane tubulation and centronuclear myopathiesLoss of catalytically inactive lipid phosphatase myotubularin-related protein 12 impairs myotubularin stability and promotes centronuclear myopathy in zebrafishMembrane trafficking in the yeast Saccharomyces cerevisiae modelPathophysiological concepts in the congenital myopathies: blurring the boundaries, sharpening the focusA mutation in VPS15 (PIK3R4) causes a ciliopathy and affects IFT20 release from the cis-GolgiVariants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar DisorganizationReducing dynamin 2 expression rescues X-linked centronuclear myopathyBridging integrator 1 (Bin1) deficiency in zebrafish results in centronuclear myopathy.In vivo imaging of skeletal muscle in mice highlights muscle defects in a model of myotubular myopathy.Antisense oligonucleotide-mediated Dnm2 knockdown prevents and reverts myotubular myopathy in mice.SPEG interacts with myotubularin, and its deficiency causes centronuclear myopathy with dilated cardiomyopathyPlentiful PtdIns5P from scanty PtdIns(3,5)P2 or from ample PtdIns? PIKfyve-dependent models: Evidence and speculation (response to: DOI 10.1002/bies.201300012).Phosphatidylinositol 5-phosphate: a nuclear stress lipid and a tuner of membranes and cytoskeleton dynamics.Expression of the neuropathy-associated MTMR2 gene rescues MTM1-associated myopathy.Yeast as a simple eukaryotic model to study human diseases linked to membrane trafficking.Amphiphysin (BIN1) negatively regulates dynamin 2 for normal muscle maturation.Centronuclear myopathies under attack: A plethora of therapeutic targetsTamoxifen prolongs survival and alleviates symptoms in mice with fatal X-linked myotubular myopathy
P2860
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P2860
Phosphatase-dead myotubularin ameliorates X-linked centronuclear myopathy phenotypes in mice
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2012 nî lūn-bûn
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2012年の論文
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2012年学术文章
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2012年学术文章
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2012年学术文章
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2012年学术文章
@zh-my
2012年学术文章
@zh-sg
2012年學術文章
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2012年學術文章
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2012年學術文章
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name
Phosphatase-dead myotubularin ...... ar myopathy phenotypes in mice
@ast
Phosphatase-dead myotubularin ...... ar myopathy phenotypes in mice
@en
type
label
Phosphatase-dead myotubularin ...... ar myopathy phenotypes in mice
@ast
Phosphatase-dead myotubularin ...... ar myopathy phenotypes in mice
@en
prefLabel
Phosphatase-dead myotubularin ...... ar myopathy phenotypes in mice
@ast
Phosphatase-dead myotubularin ...... ar myopathy phenotypes in mice
@en
P2093
P2860
P50
P1433
P1476
Phosphatase-dead myotubularin ...... ar myopathy phenotypes in mice
@en
P2093
Arnaud Ferry
Bernard Payrastre
Bruno Klaholz
Bruno Rinaldi
Dimitri L Bertazzi
Gaëtan Chicanne
Hélène Tronchère
Jocelyn Laporte
P2860
P304
P356
10.1371/JOURNAL.PGEN.1002965
P577
2012-10-11T00:00:00Z