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Pathogenic mechanisms in centronuclear myopathiesMyotubularin 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 phosphataseMyotubularin controls desmin intermediate filament architecture and mitochondrial dynamics in human and mouse skeletal muscle.Molecular basis for substrate recognition by MTMR2, a myotubularin family phosphoinositide phosphatase.Respiratory assessment in centronuclear myopathiesStructure of the catalytic phosphatase domain of MTMR8: implications for dimerization, membrane association and reversible oxidationCrystal Structure of Human Myotubularin-Related Protein 1 Provides Insight into the Structural Basis of Substrate SpecificityAAV-mediated intramuscular delivery of myotubularin corrects the myotubular myopathy phenotype in targeted murine muscle and suggests a function in plasma membrane homeostasisThe inositol phosphatase MTMR4 is a novel target of the ubiquitin ligase Nedd4The lipid phosphatase myotubularin is essential for skeletal muscle maintenance but not for myogenesis in miceMaxQuant enables high peptide identification rates, individualized p.p.b.-range mass accuracies and proteome-wide protein quantificationCongenital myopathies: diseases of the actin cytoskeleton.Reducing dynamin 2 expression rescues X-linked centronuclear myopathyIn vivo imaging of skeletal muscle in mice highlights muscle defects in a model of myotubular myopathy.X-linked myotubular myopathy in a family with two infant siblings: a case with MTM1 mutation.Modeling the human MTM1 p.R69C mutation in murine Mtm1 results in exon 4 skipping and a less severe myotubular myopathy phenotypeMyotubular myopathy caused by multiple abnormal splicing variants in the MTM1 RNA in a patient with a mild phenotype.Myofiber size correlates with MTM1 mutation type and outcome in X-linked myotubular myopathyMuscle pathology, limb strength, walking gait, respiratory function and neurological impairment establish disease progression in the p.N155K canine model of X-linked myotubular myopathy.Clinical utility gene card for: Centronuclear and myotubular myopathies.Phosphatase-dead myotubularin ameliorates X-linked centronuclear myopathy phenotypes in miceMembrane association of myotubularin-related protein 2 is mediated by a pleckstrin homology-GRAM domain and a coiled-coil dimerization moduleRespiratory motor function in individuals with centronuclear myopathiesTwo Cases of X-Linked Myotubular Myopathy with Novel MTM1 Mutations.Large duplication in MTM1 associated with myotubular myopathy.Enzyme replacement therapy rescues weakness and improves muscle pathology in mice with X-linked myotubular myopathy.X-linked recessive myotubular myopathy with MTM1 mutationsSynthesis and function of membrane phosphoinositides in budding yeast, Saccharomyces cerevisiaeExpanding the MTM1 mutational spectrum: novel variants including the first multi-exonic duplication and development of a locus-specific database.Novel findings associated with MTM1 suggest a higher number of female symptomatic carriers.Centronuclear (myotubular) myopathy.Endosomal phosphoinositides and human diseases.Protein tyrosine phosphatases: dual-specificity phosphatases in health and disease.Unusual splice-site mutations in the RSK2 gene and suggestion of genetic heterogeneity in Coffin-Lowry syndrome.Adeno-associated virus-mediated gene therapy for metabolic myopathy.T-tubule disorganization and defective excitation-contraction coupling in muscle fibers lacking myotubularin lipid phosphataseFrequency and Phenotype of Myotubular Myopathy Amongst Danish Patients with Congenital Myopathy Older than 5 Years.Barfly: sculpting membranes at the Drosophila neuromuscular junction.Inositol lipid phosphatases in membrane trafficking and human disease.
P2860
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P2860
description
2000 nî lūn-bûn
@nan
2000 թուականին հրատարակուած գիտական յօդուած
@hyw
2000 թվականին հրատարակված գիտական հոդված
@hy
2000年の論文
@ja
2000年論文
@yue
2000年論文
@zh-hant
2000年論文
@zh-hk
2000年論文
@zh-mo
2000年論文
@zh-tw
2000年论文
@wuu
name
MTM1 mutations in X-linked myotubular myopathy
@ast
MTM1 mutations in X-linked myotubular myopathy
@en
MTM1 mutations in X-linked myotubular myopathy
@nl
type
label
MTM1 mutations in X-linked myotubular myopathy
@ast
MTM1 mutations in X-linked myotubular myopathy
@en
MTM1 mutations in X-linked myotubular myopathy
@nl
prefLabel
MTM1 mutations in X-linked myotubular myopathy
@ast
MTM1 mutations in X-linked myotubular myopathy
@en
MTM1 mutations in X-linked myotubular myopathy
@nl
P2093
P2860
P3181
P1433
P1476
MTM1 mutations in X-linked myotubular myopathy
@en
P2093
A Buj-Bello
C Wallgren-Pettersson
F Blondeau
S Liechti-Gallati
S M Tanner
V Biancalana
V Schneider
P2860
P304
P3181
P356
10.1002/(SICI)1098-1004(200005)15:5<393::AID-HUMU1>3.0.CO;2-R
P407
P577
2000-01-01T00:00:00Z