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Results confirm that the severe neonatal onset of myopathy in male infants is sufficient to address the direct molecular testing toward the MTM1 gene and, above all, suggest that the number of undiagnosed symptomatic female carriers is probably underestimated
This study demonistrated that MTM1 mutation releated to Centronuclear myopathy.
mutations in SPEG (show SPEG Proteins) cause a centronuclear myopathy phenotype as a result of its interaction with MTM1.
Mutations in specific myotubularins such as MTM1 result in myotubular myopathy and Charcot-Marie-Tooth peripheral neuropathy. (Review)
Large duplications in MTM1 may account for a number of Centronuclear myopathy cases that have remained genetically unresolved.
Analysis of human XLMTM patient myotubes showed that mutations that disrupt the interaction between myotubularin and MTMR12 (show MTMR12 Proteins) proteins result in reduction of both myotubularin and MTMR12 (show MTMR12 Proteins)
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
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.
A nonsense mutation Arg486STOP was identified in exon 7 of the MTM1 gene.
Myotubularin regulates Akt (show AKT1 Proteins)-dependent survival signaling via phosphatidylinositol 3-phosphate.
Differential muscle hypertrophy is associated with satellite cell numbers and Akt (show AKT1 Proteins) pathway activation following activin type IIB receptor (show ACVR2B Proteins) inhibition in Mtm1
MTM1 interacts with BIN1 (show BIN1 Proteins) in skeletal muscle.
Data show that the IGF1R (show IGF1R Proteins)/Akt (show AKT1 Proteins) pathway is affected in phosphoinositide phosphatase myotubularin (MTM1)-deficient muscles.
Deletion of the Mtm1 gene in a mature muscle reproduces the pathological hallmarks of myotubular myopathy.
study reveal a direct function of MTM1 enzymatic activity in SR remodeling and a key role for PtdIns3P in promoting SR membrane curvature in skeletal muscle.
aberrant mTORC1 signaling and impaired autophagy are consequences of the loss of Mtm1
Phosphatase-dead myotubularin ameliorates X-linked centronuclear myopathy phenotypes in mice.
These studies demonstrate specific abnormalities in myogenic cell number and behavior that may relate to the progression of disease in myotubularin deficiency.
Inhibition of activin receptor type IIB (show ACVR2B Proteins) increases strength and lifespan in myotubularin-deficient mice.
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.
, X-linked myotubular myopathy gene 1