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Expression of several MTMR2 (zeige MTMR2 Proteine) isoforms ameliorates the myopathic phenotype owing to MTM1 loss, with increased muscle force, reduced myofiber atrophy, and reduction of the intracellular disorganization hallmarks associated with myotubular myopathy.
level of myotubes MTM1 mutations do not dramatically affect calcium homeostasis and calcium release mediated through the ryanodine receptor 1 (zeige RYR1 Proteine), though they do affect myotube size and nuclear content..mature muscles such as those obtained from patient muscle biopsies exhibit a significant decrease in expression of the ryanodine receptor 1 (zeige RYR1 Proteine), a decrease in muscle-specific (zeige EIF3K Proteine) microRNAs and a considerable up-regulation of HDAC4 (zeige HDAC4 Proteine).
In platelets, MTM1 is a highly active 3-phosphatase mainly associated to membranes and found on the dense granules and to a lesser extent on alpha-granules.
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 (zeige SPEG Proteine) 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 (zeige MTMR12 Proteine) proteins result in reduction of both myotubularin and MTMR12 (zeige MTMR12 Proteine)
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
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.
, myotubularin 1
, X-linked myotubular myopathy gene 1