Related references
Note: Only part of the references are listed.Dynamin 2 mutations cause sporadic centronuclear myropathy with neonatal onset
Marc Bitoun et al.
ANNALS OF NEUROLOGY (2007)
Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy
Anne-Sophie Nicot et al.
NATURE GENETICS (2007)
Myotubularin lipid phosphatase binds the hVPS15/hVPS34 lipid kinase complex on endosomes
Canhong Cao et al.
TRAFFIC (2007)
Two novel mutations in dynamin-2 cause axonal Charcot-Marie-Tooth disease
G. M. Fabrizi et al.
NEUROLOGY (2007)
Myofiber size correlates with MTM1 mutation type and outcome in X-linked myotubular myopathy
Christopher R. Pierson et al.
NEUROMUSCULAR DISORDERS (2007)
Phenotypic correction of alpha-sarcoglycan deficiency by intra-arterial injection of a muscle-specific serotype 1 rAAV vector
Francoise Fougerousse et al.
MOLECULAR THERAPY (2007)
Sustained AAV-mediated dystrophin expression in a canine model of Duchenne muscular dystrophy with a brief course of immunosuppression
Zejing Wang et al.
MOLECULAR THERAPY (2007)
Signaling mechanisms involved in disuse muscle atrophy
Peng Zhang et al.
MEDICAL HYPOTHESES (2007)
Myotubularin phosphatases: policing 3-phosphoinositides
Fred L. Robinson et al.
TRENDS IN CELL BIOLOGY (2006)
Systematic analysis of myotubularins:: heteromeric interactions, subcellular localisation and endosome-related functions
Oscar Lorenzo et al.
JOURNAL OF CELL SCIENCE (2006)
Body-wide gene therapy of Duchenne muscular dystrophy in the mdx mouse model
MA Denti et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2006)
Gene therapy strategies for Duchenne muscular dystrophy utilizing recombinant adeno-associated virus vectors
MJ Blankinship et al.
MOLECULAR THERAPY (2006)
Adeno-associated virus serotypes: Vector toolkit for human gene therapy
Zhijian Wu et al.
MOLECULAR THERAPY (2006)
Mutations in dynamin 2 cause dominant centronuclear myopathy
M Bitoun et al.
NATURE GENETICS (2005)
Amelioration of laminin-α2-deficient congenital muscular dystrophy by somatic gene transfer of miniagrin
CP Qiao et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2005)
X-linked myotubular and centronuclear myopathies
CR Pierson et al.
JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY (2005)
Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease
S Züchner et al.
NATURE GENETICS (2005)
Adeno-associated virus serotype 8 efficiently delivers genes to muscle and heart
Z Wang et al.
NATURE BIOTECHNOLOGY (2005)
Myotubularin regulates the function of the late endosome through the GRAM domain-phosphatidylinositol 3,5-bisphosphate interaction
K Tsujita et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2004)
Rescue of dystrophic muscle through U7 snRNA-mediated exon skipping
A Goyenvalle et al.
SCIENCE (2004)
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
C Chaussade et al.
MOLECULAR ENDOCRINOLOGY (2003)
Myotubularins, a large disease-associated family of cooperating catalytically active and inactive phosphoinositides phosphatases
J Laporte et al.
HUMAN MOLECULAR GENETICS (2003)
Characterization of myotubularin-related protein 7 and its binding partner, myotubularin-related protein 9
Y Mochizuki et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2003)
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
H Azzedine et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2003)
Force impairment in calpain 3-deficient mice is not correlated with mechanical disruption
F Fougerousse et al.
MUSCLE & NERVE (2003)
Mutation of the SBF2 gene, encoding a novel member of the myotubularin family, in Charcot-Marie-Tooth neuropathy type 4B2/11p15
J Senderek et al.
HUMAN MOLECULAR GENETICS (2003)
Genotype-phenotype correlations in X-linked myotubular myopathy
M McEntagart et al.
NEUROMUSCULAR DISORDERS (2002)
Amphiphysin 2 (Bin1) and T-tubule biogenesis in muscle
EY Lee et al.
SCIENCE (2002)
Amphiphysin is necessary for organization of the excitation-contraction coupling machinery of muscles, but not for synaptic vesicle endocytosis in Drosophila
A Razzaq et al.
GENES & DEVELOPMENT (2001)
Normal innervation and differentiation of X-linked myotubular myopathy muscle cells in a nerve-muscle coculture system
OM Dorchies et al.
NEUROMUSCULAR DISORDERS (2001)
Caveolin-3 null mice show a loss of caveolae, changes in the microdomain distribution of the dystrophin-glycoprotein complex, and T-tubule abnormalities
F Galbiati et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2001)
FYVE-DSP2, a FYVE domain-containing dual specificity protein phosphatase that dephosphorylates phosphotidylinositol 3-phosphate
RX Zhao et al.
EXPERIMENTAL CELL RESEARCH (2001)
Localized Igf-1 transgene expression sustains hypertrophy and regeneration in senescent skeletal muscle
A Musarò et al.
NATURE GENETICS (2001)
Myotubularin, a phosphatase deficient in myotubular myopathy, acts on phosphatidylinositol 3-kinase and phosphatidylinositol 3-phosphate pathway
F Blondeau et al.
HUMAN MOLECULAR GENETICS (2000)
Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2
A Bolino et al.
NATURE GENETICS (2000)