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GoPubMed Proteins lists recent and important papers and reviews for proteins. Page last changed on 08 Dec 2016.

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)
Papers on MTM1
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 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.
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