Gene Symbol: Mtm1
Description: myotubularin 1
Alias: myotubularin, X-linked myotubular myopathy gene 1, phosphatidylinositol-3,5-bisphosphate 3-phosphatase, phosphatidylinositol-3-phosphate phosphatase
Laporte J, Hu L, Kretz C, Mandel J, Kioschis P, Coy J, et al
. A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast. Nat Genet. 1996;13:175-82 pubmed
X-linked recessive myotubular myopathy (MTM1) is characterized by severe hypotonia and generalized muscle weakness, with impaired maturation of muscle fibres...
Tsujita K, Itoh T, Ijuin T, Yamamoto A, Shisheva A, Laporte J, et al
. Myotubularin regulates the function of the late endosome through the gram domain-phosphatidylinositol 3,5-bisphosphate interaction. J Biol Chem. 2004;279:13817-24 pubmed
b>Myotubularin and related proteins constitute a large and highly conserved family possessing phosphoinositide 3-phosphatase activity, although not all members possess this activity...
Laporte J, Blondeau F, Gansmuller A, Lutz Y, Vonesch J, Mandel J. The PtdIns3P phosphatase myotubularin is a cytoplasmic protein that also localizes to Rac1-inducible plasma membrane ruffles. J Cell Sci. 2002;115:3105-17 pubmed
b>Myotubularin, the phosphatase mutated in X-linked myotubular myopathy, was shown to dephosphorylate phosphatidylinositol 3-monophosphate (PtdIns3P) and was also reported to interact with nuclear transcriptional regulators from the ..
Buj Bello A, Laugel V, Messaddeq N, Zahreddine H, Laporte J, Pellissier J, et al
. The lipid phosphatase myotubularin is essential for skeletal muscle maintenance but not for myogenesis in mice. Proc Natl Acad Sci U S A. 2002;99:15060-5 pubmed
b>Myotubularin is a ubiquitously expressed phosphatase that acts on phosphatidylinositol 3-monophosphate [PI(3)P], a lipid implicated in intracellular vesicle trafficking and autophagy...
Schaletzky J, Dove S, Short B, Lorenzo O, Clague M, Barr F. Phosphatidylinositol-5-phosphate activation and conserved substrate specificity of the myotubularin phosphatidylinositol 3-phosphatases. Curr Biol. 2003;13:504-9 pubmed
..We propose that the myotubularin family of enzymes utilize both PtdIns3P and PtdIns(3,5)P2 as substrates, and that PtdIns5P functions in a ..
Buj Bello A, Fougerousse F, Schwab Y, Messaddeq N, Spehner D, Pierson C, et al
. AAV-mediated intramuscular delivery of myotubularin corrects the myotubular myopathy phenotype in targeted murine muscle and suggests a function in plasma membrane homeostasis. Hum Mol Genet. 2008;17:2132-43 pubmed publisher
Myotubular myopathy (XLMTM, OMIM 310400) is a severe congenital muscular disease due to mutations in the myotubularin gene (MTM1) and characterized by the presence of small myofibers with frequent occurrence of central nuclei...
Taylor G, Maehama T, Dixon J. Myotubularin, a protein tyrosine phosphatase mutated in myotubular myopathy, dephosphorylates the lipid second messenger, phosphatidylinositol 3-phosphate. Proc Natl Acad Sci U S A. 2000;97:8910-5 pubmed
..We report here that myotubularin, a protein tyrosine phosphatase required for muscle cell differentiation, is a potent PI(3)P phosphatase...
Buj Bello A, Furling D, Tronchère H, Laporte J, Lerouge T, Butler Browne G, et al
. Muscle-specific alternative splicing of myotubularin-related 1 gene is impaired in DM1 muscle cells. Hum Mol Genet. 2002;11:2297-307 pubmed
The myotubularin-related 1 (MTMR1) gene belongs to a highly conserved family of eucaryotic phosphatases, with at least 11 members in humans...
Nandurkar H, Layton M, Laporte J, Selan C, Corcoran L, Caldwell K, et al
. Identification of myotubularin as the lipid phosphatase catalytic subunit associated with the 3-phosphatase adapter protein, 3-PAP. Proc Natl Acad Sci U S A. 2003;100:8660-5 pubmed
b>Myotubularin is a dual-specific phosphatase that dephosphorylates phosphatidylinositol 3-phosphate and phosphatidylinositol (3,5)-bisphosphate...