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词条 Myotubularin 1
释义

  1. References

  2. Further reading

  3. External links

{{Infobox_gene}}Myotubularin is a protein that in humans is encoded by the MTM1 gene.[1]

This gene is a member of a gene family that encodes lipid phosphatases. Myotubularin is required for muscle cell differentiation and mutations in this gene have been identified as being responsible for X-linked myotubular myopathy.[1]

References

1. ^1 {{cite web | title = Entrez Gene: MTM1 myotubularin 1| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=4534| accessdate = }}

Further reading

{{refbegin | 2}}
  • {{cite journal |vauthors=Laporte J, Biancalana V, Tanner SM, etal |title=MTM1 mutations in X-linked myotubular myopathy. |journal=Hum. Mutat. |volume=15 |issue= 5 |pages= 393–409 |year= 2000 |pmid= 10790201 |doi= 10.1002/(SICI)1098-1004(200005)15:5<393::AID-HUMU1>3.0.CO;2-R }}
  • {{cite journal |vauthors=Wishart MJ, Dixon JE |title=PTEN and myotubularin phosphatases: from 3-phosphoinositide dephosphorylation to disease. |journal=Trends Cell Biol. |volume=12 |issue= 12 |pages= 579–85 |year= 2003 |pmid= 12495846 |doi=10.1016/S0962-8924(02)02412-1 }}
  • {{cite journal |vauthors=Laporte J, Bedez F, Bolino A, Mandel JL |title=Myotubularins, a large disease-associated family of cooperating catalytically active and inactive phosphoinositides phosphatases. | series=12 |journal=Hum. Mol. Genet. |volume=Spec No 2 |issue= 90002|pages= R285–92 |year= 2004 |pmid= 12925573 |doi= 10.1093/hmg/ddg273 }}
  • {{cite journal |vauthors=Kovács SK, Korcsik J, Szabó H, etal |title=[Myotubular myopathy. Case report and review of the literature] |journal=Orvosi hetilap |volume=148 |issue= 37 |pages= 1757–62 |year= 2007 |pmid= 17827085 |doi= 10.1556/OH.2007.28054 }}
  • {{cite journal | author=Magnussen E |title=[In memoriam: Elisabeth Larsen] |journal=Sygeplejersken |volume=75 |issue= 9 |pages= 16–7 |year= 1975 |pmid= 1090027 |doi= }}
  • {{cite journal |vauthors=Liechti-Gallati S, Müller B, Grimm T, etal |title=X-linked centronuclear myopathy: mapping the gene to Xq28. |journal=Neuromuscul. Disord. |volume=1 |issue= 4 |pages= 239–45 |year= 1992 |pmid= 1822801 |doi=10.1016/0960-8966(91)90096-B }}
  • {{cite journal |vauthors=Laporte J, Hu LJ, Kretz C, etal |title=A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast. |journal=Nat. Genet. |volume=13 |issue= 2 |pages= 175–82 |year= 1996 |pmid= 8640223 |doi= 10.1038/ng0696-175 }}
  • {{cite journal |vauthors=de Gouyon BM, Zhao W, Laporte J, etal |title=Characterization of mutations in the myotubularin gene in twenty six patients with X-linked myotubular myopathy. |journal=Hum. Mol. Genet. |volume=6 |issue= 9 |pages= 1499–504 |year= 1998 |pmid= 9285787 |doi=10.1093/hmg/6.9.1499 }}
  • {{cite journal |vauthors=Laporte J, Guiraud-Chaumeil C, Vincent MC, etal |title=Mutations in the MTM1 gene implicated in X-linked myotubular myopathy. ENMC International Consortium on Myotubular Myopathy. European Neuro-Muscular Center. |journal=Hum. Mol. Genet. |volume=6 |issue= 9 |pages= 1505–11 |year= 1998 |pmid= 9305655 |doi=10.1093/hmg/6.9.1505 }}
  • {{cite journal |vauthors=Tanner SM, Laporte J, Guiraud-Chaumeil C, Liechti-Gallati S |title=Confirmation of prenatal diagnosis results of X-linked recessive myotubular myopathy by mutational screening, and description of three new mutations in the MTM1 gene. |journal=Hum. Mutat. |volume=11 |issue= 1 |pages= 62–8 |year= 1998 |pmid= 9450905 |doi= 10.1002/(SICI)1098-1004(1998)11:1<62::AID-HUMU10>3.0.CO;2-X }}
  • {{cite journal |vauthors=Cui X, De Vivo I, Slany R, etal |title=Association of SET domain and myotubularin-related proteins modulates growth control. |journal=Nat. Genet. |volume=18 |issue= 4 |pages= 331–7 |year= 1998 |pmid= 9537414 |doi= 10.1038/ng0498-331 }}
  • {{cite journal |vauthors=Laporte J, Blondeau F, Buj-Bello A, etal |title=Characterization of the myotubularin dual specificity phosphatase gene family from yeast to human. |journal=Hum. Mol. Genet. |volume=7 |issue= 11 |pages= 1703–12 |year= 1998 |pmid= 9736772 |doi=10.1093/hmg/7.11.1703 }}
  • {{cite journal |vauthors=Laporte J, Guiraud-Chaumeil C, Tanner SM, etal |title=Genomic organization of the MTM1 gene implicated in X-linked myotubular myopathy. |journal=Eur. J. Hum. Genet. |volume=6 |issue= 4 |pages= 325–30 |year= 1998 |pmid= 9781038 |doi= 10.1038/sj.ejhg.5200189 }}
  • {{cite journal |vauthors=Kioschis P, Wiemann S, Heiss NS, etal |title=Genomic organization of a 225-kb region in Xq28 containing the gene for X-linked myotubular myopathy (MTM1) and a related gene (MTMR1). |journal=Genomics |volume=54 |issue= 2 |pages= 256–66 |year= 1999 |pmid= 9828128 |doi= 10.1006/geno.1998.5560 }}
  • {{cite journal |vauthors=Nishino I, Minami N, Kobayashi O, etal |title=MTM1 gene mutations in Japanese patients with the severe infantile form of myotubular myopathy. |journal=Neuromuscul. Disord. |volume=8 |issue= 7 |pages= 453–8 |year= 1999 |pmid= 9829274 |doi=10.1016/S0960-8966(98)00075-3 }}
  • {{cite journal |vauthors=Tanner SM, Schneider V, Thomas NS, etal |title=Characterization of 34 novel and six known MTM1 gene mutations in 47 unrelated X-linked myotubular myopathy patients. |journal=Neuromuscul. Disord. |volume=9 |issue= 1 |pages= 41–9 |year= 1999 |pmid= 10063835 |doi=10.1016/S0960-8966(98)00090-X }}
  • {{cite journal |vauthors=Häne BG, Rogers RC, Schwartz CE |title=Germline mosaicism in X-linked myotubular myopathy. |journal=Clin. Genet. |volume=56 |issue= 1 |pages= 77–81 |year= 1999 |pmid= 10466421 |doi=10.1034/j.1399-0004.1999.560111.x }}
  • {{cite journal |vauthors=Buj-Bello A, Biancalana V, Moutou C, etal |title=Identification of novel mutations in the MTM1 gene causing severe and mild forms of X-linked myotubular myopathy. |journal=Hum. Mutat. |volume=14 |issue= 4 |pages= 320–5 |year= 1999 |pmid= 10502779 |doi= 10.1002/(SICI)1098-1004(199910)14:4<320::AID-HUMU7>3.0.CO;2-O }}
  • {{cite journal |vauthors=Taylor GS, Maehama T, Dixon JE |title=Inaugural article: myotubularin, a protein tyrosine phosphatase mutated in myotubular myopathy, dephosphorylates the lipid second messenger, phosphatidylinositol 3-phosphate. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=97 |issue= 16 |pages= 8910–5 |year= 2000 |pmid= 10900271 |doi= 10.1073/pnas.160255697 | pmc=16795 }}
{{refend}}

External links

  • [https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=mtm GeneReviews/NCBI/NIH/UW entry on X-Linked Myotubular Myopathy or Centronuclear Myopathy]
{{Protein tyrosine phosphatases}}{{gene-X-stub}}

1 : Human proteins
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