A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast
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Pathogenic mechanisms in centronuclear myopathiesMyotubularin, a protein tyrosine phosphatase mutated in myotubular myopathy, dephosphorylates the lipid second messenger, phosphatidylinositol 3-phosphateLaforin, defective in the progressive myoclonus epilepsy of Lafora type, is a dual-specificity phosphatase associated with polyribosomesMyotubularin and MTMR2, phosphatidylinositol 3-phosphatases mutated in myotubular myopathy and type 4B Charcot-Marie-Tooth diseaseRegulation of myotubularin-related (MTMR)2 phosphatidylinositol phosphatase by MTMR5, a catalytically inactive phosphataseThe phosphatidylinositol 3-phosphate phosphatase myotubularin- related protein 6 (MTMR6) is a negative regulator of the Ca2+-activated K+ channel KCa3.1The phosphoinositide-3-phosphatase MTMR2 associates with MTMR13, a membrane-associated pseudophosphatase also mutated in type 4B Charcot-Marie-Tooth diseaseIdentification of myotubularin as the lipid phosphatase catalytic subunit associated with the 3-phosphatase adapter protein, 3-PAPCharacterization of myotubularin-related protein 7 and its binding partner, myotubularin-related protein 9Characterization of the myotubularin dual specificity phosphatase gene family from yeast to humanMyotubularin controls desmin intermediate filament architecture and mitochondrial dynamics in human and mouse skeletal muscle.The myotubularin-amphiphysin 2 complex in membrane tubulation and centronuclear myopathiesAssociation of SET domain and myotubularin-related proteins modulates growth controlMutations 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 glaucomaMolecular basis for substrate recognition by MTMR2, a myotubularin family phosphoinositide phosphatase.The phosphoinositide kinase PIKfyve/Fab1p regulates terminal lysosome maturation in Caenorhabditis elegansMale infertility, impaired spermatogenesis, and azoospermia in mice deficient for the pseudophosphatase Sbf1Two closely related endocytic proteins that share a common OCRL-binding motif with APPL1Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouseIdentification of mitogen-activated protein kinase docking sites in enzymes that metabolize phosphatidylinositols and inositol phosphates.Congenital myopathies: an updateApproach to the diagnosis of congenital myopathiesDefective membrane remodeling in neuromuscular diseases: insights from animal modelsPhosphoinositides: tiny lipids with giant impact on cell regulationValidity of a Neurological Scoring System for Canine X-Linked Myotubular MyopathyGait characteristics in a canine model of X-linked myotubular myopathyLoss of myotubularin function results in T-tubule disorganization in zebrafish and human myotubular myopathyMTM-6, a phosphoinositide phosphatase, is required to promote synapse formation in Caenorhabditis elegansLoss of catalytically inactive lipid phosphatase myotubularin-related protein 12 impairs myotubularin stability and promotes centronuclear myopathy in zebrafishConstitutive expression of Yes-associated protein (Yap) in adult skeletal muscle fibres induces muscle atrophy and myopathyFrom dynamic live cell imaging to 3D ultrastructure: novel integrated methods for high pressure freezing and correlative light-electron microscopyPhosphoinositide regulation of integrin trafficking required for muscle attachment and maintenanceCaenorhabditis elegans myotubularin MTM-1 negatively regulates the engulfment of apoptotic cellsStructure of the catalytic phosphatase domain of MTMR8: implications for dimerization, membrane association and reversible oxidationMembrane topology and essential amino acid residues of Phs1, a 3-hydroxyacyl-CoA dehydratase involved in very long-chain fatty acid elongation.Germline mosaicism in X-linked myotubular myopathyMTM1 mutations in X-linked myotubular myopathyIdentification of novel mutations in the MTM1 gene causing severe and mild forms of X-linked myotubular myopathyMutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathyProtein tyrosine phosphatase-like A regulates myoblast proliferation and differentiation through MyoG and the cell cycling signaling pathway
P2860
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P2860
A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast
description
1996 nî lūn-bûn
@nan
1996 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
1996 թվականի հունիսին հրատարակված գիտական հոդված
@hy
1996年の論文
@ja
1996年論文
@yue
1996年論文
@zh-hant
1996年論文
@zh-hk
1996年論文
@zh-mo
1996年論文
@zh-tw
1996年论文
@wuu
name
A gene mutated in X-linked myo ...... tase family conserved in yeast
@ast
A gene mutated in X-linked myo ...... tase family conserved in yeast
@en
A gene mutated in X-linked myo ...... tase family conserved in yeast
@nl
type
label
A gene mutated in X-linked myo ...... tase family conserved in yeast
@ast
A gene mutated in X-linked myo ...... tase family conserved in yeast
@en
A gene mutated in X-linked myo ...... tase family conserved in yeast
@nl
prefLabel
A gene mutated in X-linked myo ...... tase family conserved in yeast
@ast
A gene mutated in X-linked myo ...... tase family conserved in yeast
@en
A gene mutated in X-linked myo ...... tase family conserved in yeast
@nl
P2093
P2860
P3181
P356
P1433
P1476
A gene mutated in X-linked myo ...... tase family conserved in yeast
@en
P2093
P Kioschis
S M Klauck
P2860
P2888
P304
P3181
P356
10.1038/NG0696-175
P407
P577
1996-06-01T00:00:00Z