MTM1 Antibody

1. Using exome sequencing to decipher family history in a healthy individual: Comparison of pathogenic and population MTM1 variants. PMID: 30047259
2. Expression of several MTMR2 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. PMID: 28934386
3. level of myotubes MTM1 mutations do not dramatically affect calcium homeostasis and calcium release mediated through the ryanodine receptor 1, 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, a decrease in muscle-specific microRNAs and a considerable up-regulation of HDAC4. PMID: 28007904
4. 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. PMID: 27155155
5. 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 PMID: 27017278
6. This study demonistrated that MTM1 mutation releated to Centronuclear myopathy. PMID: 25957634
7. mutations in SPEG cause a centronuclear myopathy phenotype as a result of its interaction with MTM1. PMID: 25087613
8. Mutations in specific myotubularins such as MTM1 result in myotubular myopathy and Charcot-Marie-Tooth peripheral neuropathy. (Review) PMID: 22403079
9. Large duplications in MTM1 may account for a number of Centronuclear myopathy cases that have remained genetically unresolved. PMID: 22968136
10. Analysis of human XLMTM patient myotubes showed that mutations that disrupt the interaction between myotubularin and MTMR12 proteins result in reduction of both myotubularin and MTMR12 PMID: 23818870
11. 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 PMID: 22068590
12. 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. PMID: 22101172
13. A nonsense mutation Arg486STOP was identified in exon 7 of the MTM1 gene. PMID: 21488203
14. Myotubularin regulates Akt-dependent survival signaling via phosphatidylinositol 3-phosphate. PMID: 21478156
15. Sequence analysis of the entire coding region of the MTM1 gene identified a hemizygous deletion of the T nucleotide at position 431 in exon 6 (c.431delT [p.Leu144fs]), which results in frameshift at codon 144. PMID: 20500434
16. mutations in MTM1 disrupted the MTM1-desmin complex, resulting in abnormal intermediate filament assembly and architecture in muscle cells PMID: 21135508
17. hemizygous mutations in the MTM1 gene including c.1261-10A>G in case, 1, c.70C>T (R24X) in case 2, and a previously unreported mutation, c.924_926delCTT(p. F308del), in case 3 PMID: 20358311
18. Shows that most MTM1 mutations including missense lead to a strong decrease in protein level : the associated myotubular myopathy is most probably due to total loss-of-function PMID: 11456308
19. The phosphatase activity of myotubularin MTM1 towards the 3-position of phosphatidylinositol 3-phosphate is conserved in homologous proteins MTMR2 and MTMR3 PMID: 11846405
20. Knocking-out MTM1 in mouse reproduces a myotubular myopathy phenotype and suggests a role for myotubularin in structural organization of muscle fibers PMID: 12391329
21. Myotubularin MTM1 is implicated in intracellular trafficking of the glucose receptor GLUT4 PMID: 14500759
22. REVIEW : MTM1 and homologous proteins are mutated in several neuromuscular diseases PMID: 18429927
23. A phylogenetic study revealing co-evolution of myotubularins with PI 3-kinase class III complex PMID: 18774718
24. Disruption of MTM1 in mouse leads to defects in triad structure, a proposed mechanism for the related muscle disease PMID: 19846786
25. Myotubularin MTM1 forms cytosolic needle-like structures upon stress PMID: 20140253
26. Novel MTM1 antibodies for molecular diagnosis, and identification of novel deep intronic mutations PMID: 20434914
27. mutations in fifty patients with X-linked myotubular myopathy in the United States PMID: 11793470
28. Localization to Rac1-induced cell membrane ruffles is dependent on the presence of a domain highly conserved in the myotubularin family. Myotubularin may dephosphorylate a subpool of PtdIns3P at the plasma membrane. PMID: 12118066
29. REVIEW: the cellular mechanisms of PTEN and MTMR function and their role in the etiology of cancer and other human diseases PMID: 12495846
30. 192 different mutations in the MTM1 gene have been described in 328 families. PMID: 12522554
31. investigation of MTM1 and MTMR6 and finding that they use PtdIns(3,5)P2 in addition to PtdIns3P as a substrate in vitro PMID: 12646134
32. Identification of myotubularin as the lipid phosphatase catalytic subunit associated with the 3-phosphatase adapter protein, 3-PAP. PMID: 12847286
33. role of MTM1 in the production of phosphatidylinositol 5-phosphate in mammalian cells suggesting the lack of transformation of phosphatidylinositol 3,5-bisphosphate into PtdIns(5)P might be an important component in the etiology of myotubular myopathy PMID: 14660569
34. myotubularin phosphatase physiologically functions in late endosomal trafficking and vacuolar morphology through interaction with PtdIns(3,5)P(2). PMID: 14722070
35. We newly identified 26 unrelated Japanese patients with MTM1 mutations by genomic DNA and transcript analysis, including 12 novel mutations. PMID: 15725586
36. Two families had a myopathy affecting only women, with asymmetric weakness, skeletal asymmetry, and an elevated hemidiaphragm. One family had a myotubularin stop codon mutation in exon 9; the other had a splice site mutation in exon 13. PMID: 15883335
37. Patients with MTM1 missense mutations had larger myofiber diameters than those with truncation/deletion mutations. These data indicate that differences in myofiber size correlate with MTM1 mutation type and patient outcome. PMID: 17537630
38. X-linked myotubular myopathy of baby boy has new mutation of mtm1. PMID: 17621527
39. The diagnosis of myotubular myopathy was confirmed by genetic analysis revealing a novel frameshift mutation (1314-1315insT) of the myotubularin-coding MTM1 gene. PMID: 17827085
40. Data show that an atypical, late-onset form of MTM1-related centronuclear myopathy has a new histological marker "Necklace fibers". PMID: 19084976
41. A base pair change was detected in exon 11 of the MTM1 gene: c.1160C>A, which caused an amino acid change, p.S387Y. The father's gene was normal but the mother had the same mutation as her son and was thus a carrier. PMID: 19129059
42. Expression of human myotubularin inhibited growth of S. pombe and induced a vacuolar phenotype similar to mutants of VPS34, a phosphatidylinositol 3-kinase (PI3K). Myotubularin directly dephosphorylates phosphatidylinositol 3-monophosphate (PtdIns3P) PMID: 11001925
43. REVIEW: Myotubularin defines a large family of cooperating catalytically active and inactive phosphatases, conserved from yeast to human. Myotubularin homologs, MTMR2 and MTMR13, are mutated in autosomal recessive Charcot-Marie-Tooth neuropathies. PMID: 12925573
44. Myotubularin loss-of-function mutations cause X-linked myotubular myopathy, a severe congenital myoopathy with predominance and hypotrophy of type I (slow) muscle fibers PMID: 8640223
45. Heterozygous female carriers of MTM1 mutations who develop myopathic symptoms may present with limb girdle and facial weakness and may manifest a skewed pattern of X-chromosome inactivation. PMID: 11552027
46. Myotubularin is the 2nd member of the PTP superfamily to utilize an inositol lipid as its physiologic substrate and activity toward PI(3)P may be common to all myotubularin family enzymes. Loss of PI(3)P phosphatase activity correlates with human disease. PMID: 10900271

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HGNC: 7448

OMIM: 300415

KEGG: hsa:4534

STRING: 9606.ENSP00000359423

UniGene: Hs.655056