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Myotubularin 1

This gene encodes a dual-specificity phosphatase that acts on both phosphotyrosine and phosphoserine. It is required for muscle cell differentiation and mutations in this gene have been identified as being responsible for X-linked myotubular myopathy. [provided by RefSeq, Jul 2008] (from NCBI)
Top mentioned proteins: HAD, CAN, AGE, Bin1, Dynamin I
Papers on MTM1
Respiratory motor function in individuals with centronuclear myopathies.
Byrne et al., Gainesville, United States. In Muscle Nerve, Feb 2016
INTRODUCTION: Individuals with X-linked myotubular myopathy (XLMTM) and other centronuclear myopathies (CNMs) frequently have profound respiratory insufficiency that requires support early in life.
A phosphoinositide conversion mechanism for exit from endosomes.
Haucke et al., Berlin, Germany. In Nature, Feb 2016
Here we report that surface delivery of endosomal cargo requires hydrolysis of PI(3)P by the phosphatidylinositol 3-phosphatase MTM1, an enzyme whose loss of function leads to X-linked centronuclear myopathy (also called myotubular myopathy) in humans.
Mutation spectrum of the MTM1 gene in XLMTM patients: 10 years of experience in prenatal and postnatal diagnosis.
D'Apice et al., Roma, Italy. In Clin Genet, Jan 2016
X-linked myotubular myopathy (XLMTM) is a congenital neuromuscular disorder defined by severe hypotonia, respiratory failure and histopathologic changes in muscle biopsy.
Gene therapy in monogenic congenital myopathies.
Childers et al., Winston-Salem, United States. In Methods, Nov 2015
Preclinical findings in animal models appear promising, as illustrated by gene replacement for X-linked myotubular myopathy (XLMTM) in canine and murine models.
Muscle pathology, limb strength, walking gait, respiratory function and neurological impairment establish disease progression in the p.N155K canine model of X-linked myotubular myopathy.
Childers et al., Seattle, United States. In Ann Transl Med, Oct 2015
BACKGROUND: Loss-of-function mutations in the myotubularin (MTM1) gene cause X-linked myotubular myopathy (XLMTM), a fatal, inherited pediatric disease that affects the entire skeletal musculature.
Validity of a Neurological Scoring System for Canine X-Linked Myotubular Myopathy.
Childers et al., Blacksburg, United States. In Hum Gene Ther Clin Dev, Jun 2015
This devastating congenital myopathy is caused by mutation in the myotubularin (MTM1) gene.
Validity of a neurological scoring system for canine X-linked myotubular myopathy.
Childers et al., Seattle, United States. In Hum Gene Ther Clin Dev, Jun 2015
This devastating congenital myopathy is caused by mutation in the myotubularin (MTM1) gene.
DNM2 mutations in a cohort of sporadic patients with centronuclear myopathy.
Zanoteli et al., São Paulo, Brazil. In Genet Mol Biol, May 2015
Centronuclear myopathy (CNM) is a rare congenital muscle disease characterized by fibers with prominent centralized nuclei in muscle biopsies.
Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth.
Ravenscroft et al., Verdun, France. In Orphanet J Rare Dis, 2014
Within this cohort, mutations were found in eight previously known neuromuscular disease genes (CHRND, CHNRG, ECEL1, GBE1, MTM1, MYH3, NEB and RYR1) and four novel neuromuscular disease genes were identified and have been published as separate reports (GPR126, KLHL40, KLHL41 and SPEG).
Pathogenic mechanisms in centronuclear myopathies.
Gautel et al., London, United Kingdom. In Front Aging Neurosci, 2013
The most common forms of congenital myopathies with central nuclei have been attributed to X-linked recessive mutations in the MTM1 gene encoding myotubularin ("X-linked myotubular myopathy"), autosomal-dominant mutations in the DNM2 gene encoding dynamin-2 and the BIN1 gene encoding amphiphysin-2 (also named bridging integrator-1, BIN1, or SH3P9), and autosomal-recessive mutations in BIN1, the RYR1 gene encoding the skeletal muscle ryanodine receptor, and the TTN gene encoding titin.
Myotubularin-deficient myoblasts display increased apoptosis, delayed proliferation, and poor cell engraftment.
Gussoni et al., Boston, United States. In Am J Pathol, 2012
These studies demonstrate specific abnormalities in myogenic cell number and behavior that may relate to the progression of disease in myotubularin deficiency.
Myopathy in a woman and her daughter associated with a novel splice site MTM1 mutation.
Oldfors et al., Göteborg, Sweden. In Neuromuscul Disord, 2012
The patients of Myopathy had a novel heterozygous splice site mutation in the myotubularin gene, MTM1 (c.867+1G>T). Analysis of MTM1 cDNA revealed that the mutation resulted in aberrant splicing with variable exon skipping.
Modeling the human MTM1 p.R69C mutation in murine Mtm1 results in exon 4 skipping and a less severe myotubular myopathy phenotype.
Beggs et al., Columbus, United States. In Hum Mol Genet, 2012
data explain the basis for phenotypic variability among human patients with MTM1 p.R69C mutations and establish the Mtm1 p.R69C mouse as a valuable model for the disease, as its less severe phenotype will expand the scope of testable preclinical therapies
Myotubularin phosphoinositide phosphatases in human diseases.
Laporte et al., Illkirch-Graffenstaden, France. In Curr Top Microbiol Immunol, 2011
Such catalytic site characterizes the myotubularin 3-phosphatases that dephosphorylate PtdIns3P and PtdIns(3,5)P₂ and produce PtdIns5P.
Myotubularin regulates Akt-dependent survival signaling via phosphatidylinositol 3-phosphate.
Taylor et al., Omaha, United States. In J Biol Chem, 2011
Myotubularin regulates Akt-dependent survival signaling via phosphatidylinositol 3-phosphate.
X-linked myotubular myopathy in a family with two infant siblings: a case with MTM1 mutation.
Kim et al., Seoul, South Korea. In Yonsei Med J, 2011
A nonsense mutation Arg486STOP was identified in exon 7 of the MTM1 gene.
Case report of intrafamilial variability in autosomal recessive centronuclear myopathy associated to a novel BIN1 stop mutation.
Laporte et al., Illkirch-Graffenstaden, France. In Orphanet J Rare Dis, 2009
Centronuclear myopathies (CNM) describe a group of rare muscle diseases typically presenting an abnormal positioning of nuclei in muscle fibers.
Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy.
Laporte et al., Illkirch-Graffenstaden, France. In Nat Genet, 2007
The severe neonatal X-linked form (myotubular myopathy) is due to mutations in the phosphoinositide phosphatase myotubularin (MTM1), whereas mutations in dynamin 2 (DNM2) have been found in some autosomal dominant cases.
X-Linked Centronuclear Myopathy
Pierson et al., Seattle, United States. In Unknown Journal, 2002
MTM1 is the only gene in which mutation is known to cause XLCNM.
A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast.
Dahl et al., Strasbourg, France. In Nat Genet, 1996
Myotubularin loss-of-function mutations cause X-linked myotubular myopathy, a severe congenital myoopathy with predominance and hypotrophy of type I (slow) muscle fibers
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