| 1 | MTM1
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| Cellular, biochemical and molecular changes in muscles from patients with X-linked myotubular myopathy due to MTM1 mutations.
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| Bachmann C, Jungbluth H, Muntoni F, Manzur AY, Zorzato F, Treves S.
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| Hum Mol Genet 26(2):320-332. doi: 10.1093/hmg/ddw388.
2017
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| 2 | MTM1
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| Phosphatidylinositol 3-kinase inhibition restores Ca2+ release defects and prolongs survival in myotubularin-deficient mice.
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| Kutchukian C, Lo Scrudato M, Tourneur Y, Poulard K, Vignaud A, Berthier C, Allard B, Lawlor MW, Buj-Bello A, Jacquemond V.
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| Proc Natl Acad Sci U S A 113(50):14432-14437. Epub 2016 Nov 28.
2016
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| 3 | MTM1
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| Novel findings associated with MTM1 suggest a higher number of female symptomatic carriers.
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| Savarese M, Musumeci O, Giugliano T, Rubegni A, Fiorillo C, Fattori F, Torella A, Battini R, Rodolico C, Pugliese A, Piluso G, Maggi L, D'Amico A, Bruno C, Bertini E, Santorelli FM, Mora M, Toscano A, Minetti C, Nigro V.
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| Neuromuscul Disord 26(4-5):292-9. doi: 10.1016/j.nmd.2016.02.004. Epub 2016 Feb 17.
2016
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| 4 | MTM1, SPEG
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| SPEG interacts with myotubularin, and its deficiency causes centronuclear myopathy with dilated cardiomyopathy.
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| Agrawal PB, Pierson CR, Joshi M, Liu X, Ravenscroft G, Moghadaszadeh B, Talabere T, Viola M, Swanson LC, Haliloğlu G, Talim B, Yau KS, Allcock RJ, Laing NG, Perrella MA, Beggs AH.
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| Am J Hum Genet 95(2):218-26. doi: 10.1016/j.ajhg.2014.07.004. Epub 2014 Jul 31.
2014
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| 5 | BIN1, MTM1
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| The myotubularin-amphiphysin 2 complex in membrane tubulation and centronuclear myopathies.
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| Royer B, Hnia K, Gavriilidis C, Tronchère H, Tosch V, Laporte J.
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| EMBO Rep 14(10):907-15. doi: 10.1038/embor.2013.119. Epub 2013 Aug 6.
2013
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| 6 | MTM1
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| Loss of catalytically inactive lipid phosphatase myotubularin-related protein 12 impairs myotubularin stability and promotes centronuclear myopathy in zebrafish.
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| Gupta VA, Hnia K, Smith LL, Gundry SR, McIntire JE, Shimazu J, Bass JR, Talbot EA, Amoasii L, Goldman NE, Laporte J, Beggs AH.
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| PLoS Genet 9(6):e1003583. doi: 10.1371/journal.pgen.1003583. Epub 2013 Jun 20.
2013
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| 7 | MTM1
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| Lack of myotubularin (MTM1) leads to muscle hypotrophy through unbalanced regulation of the autophagy and ubiquitin-proteasome pathways.
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| Al-Qusairi L, Prokic I, Amoasii L, Kretz C, Messaddeq N, Mandel JL, Laporte J.
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| FASEB J 27(8):3384-94. doi: 10.1096/fj.12-220947. Epub 2013 May 21.
2013
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| 8 | MTM1, PYKFYVE
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| Myotubularin and PtdIns3P remodel the sarcoplasmic reticulum in muscle in vivo.
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| Amoasii L, Hnia K, Chicanne G, Brech A, Cowling BS, Müller MM, Schwab Y, Koebel P, Ferry A, Payrastre B, Laporte J.
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| J Cell Sci 126(Pt 8):1806-19. doi: 10.1242/jcs.118505. Epub 2013 Feb 26.
2013
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| 9 | MTM1
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| Myotubular myopathy caused by multiple abnormal splicing variants in the MTM1 RNA in a patient with a mild phenotype.
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| Vasli N, Laugel V, Böhm J, Lannes B, Biancalana V, Laporte J.
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| Eur J Hum Genet 20(6):701-4. doi: 10.1038/ejhg.2011.256. Epub 2012 Jan 18.
2012
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| 10 | MTM1
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| Phosphatase-dead myotubularin ameliorates X-linked centronuclear myopathy phenotypes in mice.
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| Amoasii L, Bertazzi DL, Tronchère H, Hnia K, Chicanne G, Rinaldi B, Cowling BS, Ferry A, Klaholz B, Payrastre B, Laporte J, Friant S.
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| PLoS Genet 8(10):e1002965. doi: 10.1371/journal.pgen.1002965. Epub 2012 Oct 11.
2012
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| 11 | MTM1
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| Myotubularin-deficient myoblasts display increased apoptosis, delayed proliferation, and poor cell engraftment.
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| Lawlor MW, Alexander MS, Viola MG, Meng H, Joubert R, Gupta V, Motohashi N, Manfready RA, Hsu CP, Huang P, Buj-Bello A, Kunkel LM, Beggs AH, Gussoni E.
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| Am J Pathol 181(3):961-8. doi: 10.1016/j.ajpath.2012.05.016. Epub 2012 Jul 27.
2012
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| 12 | DES, MTM1
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| Myotubularin controls desmin intermediate filament architecture and mitochondrial dynamics in human and mouse skeletal muscle.
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| Hnia K, Tronchère H, Tomczak KK, Amoasii L, Schultz P, Beggs AH, Payrastre B, Mandel JL, Laporte J.
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| J Clin Invest 121(1):70-85. doi: 10.1172/JCI44021. Epub 2010 Dec 6.
2011
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| 13 | MTM1
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| Myotubularin regulates Akt-dependent survival signaling via phosphatidylinositol 3-phosphate.
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| Razidlo GL, Katafiasz D, Taylor GS.
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| J Biol Chem 286(22):20005-19. doi: 10.1074/jbc.M110.197749. Epub 2011 Apr 8.
2011
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| 14 | MTM1
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| Loss of myotubularin function results in T-tubule disorganization in zebrafish and human myotubular myopathy.
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| Dowling JJ, Vreede AP, Low SE, Gibbs EM, Kuwada JY, Bonnemann CG, Feldman EL.
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| PLoS Genet 5(2):e1000372. Epub 2009 Feb 6.
2009
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| 15 | MTM1
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| Myofiber size correlates with MTM1 mutation type and outcome in X-linked myotubular myopathy.
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| Pierson CR, Agrawal PB, Blasko J, Beggs AH.
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| Neuromuscul Disord 17(7):562-8. Epub 2007 May 29. Erratum in: Neuromuscul Disord. 2008 Jun;18(6):519.
2007
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| 16 | MTM1
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| Characterization of MTM1 mutations in 31 Japanese families with myotubular myopathy, including a patient carrying 240 kb deletion in Xq28 without male hypogenitalism.
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| Tsai TC, Horinouchi H, Noguchi S, Minami N, Murayama K, Hayashi YK, Nonaka I, Nishino I.
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| Neuromuscul Disord 15(3):245-52. Epub 2005 Jan 28. 2005
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| 17 | MTM1
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| Characterisation of mutations in 77 patients with X-linked myotubular myopathy, including a family with a very mild phenotype
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| Biancalana V, Caron O, Gallati S, Baas F, Kress W, Novelli G, D'Apice MR, Lagier-Tourenne C, Buj-Bello A, Romero NB, Mandel JL.
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| Hum Genet 112(2):135-42. 2003
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| 18 | MTM1, MTMR8
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| The myotubularin family: from genetic disease to phosphoinositide metabolism.
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| Laporte J, Blondeau F, Buj-Bello A, Mandel JL.
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| Trends Genet 17(4):221-8. 2001
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| 19 | MTM1
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| MTM1 mutations in X-linked myotubular myopathy.
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| Laporte J, Biancalana V, Tanner SM, Kress W, Schneider V, Wallgren-Pettersson C, Herger F, Buj-Bello A, Blondeau F, Liechti-Gallati S, Mandel JL.
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| Hum Mutat 15(5):393-409. Review. 2000
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| 20 | MTM1
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| Inaugural article: myotubularin, a protein tyrosine phosphatase mutated in myotubular myopathy, dephosphorylates the lipid second messenger, phosphatidylinositol 3-phosphate.
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| Taylor GS, Maehama T, Dixon JE.
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| Proc Natl Acad Sci U S A 97(16):8910-5. 2000
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| 21 | MTM1, MAMLD1, MSDX
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| The novel contiguous gene syndrome of myotubular myopathy (MTM1), male hypogenitalism and deletion in Xq28:report of the first familial case.
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| Bartsch O, et al.
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| Cytogenet Cell Genet 85(3-4):310-314. 1999
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| 22 | MTM1
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| Germline mosaicism in X-linked myotubular myopathy.
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| Hane BG, et al.
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| Clin Genet 56(1):77-81. 1999
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| 23 | MTM1
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| Identification of novel mutations in the MTM1 gene causing severe and mild forms of X-linked myotubular myopathy.
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| Buj-Bello A, et al.
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| Hum Mutat 14(4):320-325 1999
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| 24 | ACR, MTM1, SETDB1
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| Assignment of a novel bifurcated SET domain gene, SETDB1, to human chromosome band 1q21 by in situ hybridization and radiation hybrids.
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| Harte PJ, Wu W, Carrasquillo MM, Matera AG.
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| Cytogenet Cell Genet 84(1-2):83-6. 1999
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| 25 | MTM1
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| Extensive germinal mosaicism in a family with X linked myotubular myopathy simulates genetic heterogeneity.
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| Vincent MC, et al.
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| J Med Genet 35 : 241-243. 1998
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| 26 | MTM1, SBF1
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| Association of SET domain and myotubularin-related proteins modulates growth control.
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| Cui X, et al.
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| Nat Genet 18 : 331-337. 1998
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| 27 | MTM1
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| Genomic organization of the MTM1 gene implicated in X-linked myotubular myopathy.
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| Laporte J, Guiraud-Chaumeil C, Tanner SM, Blondeau F, Hu LJ, Vicaire S, Liechti-Gallati S, Mandel JL.
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| Eur J Hum Genet 6(4):325-30. 1998
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| 28 | MTM1, MTMR1, MTMR2, MTMR3, MTMR4, MTMR6, MTMR7, SBF1
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| Characterization of the myotubularin dual specificity phosphatase gene family from yeast to human.
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| Laporte J, et al.
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| Hum Mol Genet 7 : 1703-1712. 1998
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| 29 | MTM1, MTMR1
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| Genomic organization of a 225-kb region in Xq28 containing the gene for X-linked myotubular myopathy (MTM1) and a related gene (MTMR1).
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| Kioschis P, et al.
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| Genomics 54 : 256-266. 1998
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| 30 | KMT2D, MTM1, NSD2, SETDB1
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| SET domain proteins modulate chromatin domains in eu- and heterochromatin.
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| Jenuwein T, et al.
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| Cell Mol Life Sci 54(1):80-93. Review. 1998
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| 31 | MTM1
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| A mutation in the MTM1 gene invalidates a previous suggestion of nonallelic heterogeneity in X-linked myotubular myopathy.
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| Guiraud-Chaumeil C, Vincent MC, Laporte J, Fardeau M, Samson F, Mandel JL.
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| Am J Hum Genet 60(6):1542-4. 1997
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| 32 | MTM1
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| Mutations in the MTM1 gene implicated in X-linked myotubular myopathy. ENMC International Consortium on Myotubular Myopathy. European Neuro-Muscular Center.
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| Laporte J, Guiraud-Chaumeil C, Vincent MC, Mandel JL, Tanner SM, Liechti-Gallati S, Wallgren-Pettersson C, Dahl N, Kress W, Bolhuis PA, Fardeau M, Samson F, Bertini E.
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| Hum Mol Genet 6(9):1505-11. 1997
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| 33 | MTM1
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| Characterization of mutations in the myotubularin gene in twenty six patients with X-linked myotubular myopathy.
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| de Gouyon BM, Zhao W, Laporte J, Mandel JL, Metzenberg A, Herman GE.
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| Hum Mol Genet 6(9):1499-504. 1997
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| 34 | MAMLD1, MTM1, MSDX
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| Cloning and characterization of an alternatively spliced gene in proximal Xq28 deleted in two patients with intersexual genitalia and myotubular myopathy.
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| Laporte J, Kioschis P, Hu LJ, Kretz C, Carlsson B, Poustka A, Mandel JL,Dahl N.
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| Genomics 41(3):458-62. 1997
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| 35 | MSDX, MTM1
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| Deletions in Xq28 in two boys with myotubular myopathy and abnormal genital development define a new contiguous gene syndrome in a 430 kb region.
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| Hu LJ, et al.
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| Hum Mol Genet 5 : 139-143. 1996
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| 36 | MTM1, D0S1366E, MAMLD1, XAP81, XAP82, XAP83, XAP84, XAP85, XAP87, XAP88, XAP89, XAP90
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| A 900-kb cosmid contig and 10 new transcripts within the candidate region for myotubular myopathy (MTM1).
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| Kioschis P, et al.
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| Genomics 33 : 365-373. 1996
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| 37 | MSDX, MTM1
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| X-linked myotubular myopathy : refinement of the gene to a 280-kb regionwith new and highly informative microsatellite markers.
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| Hu LJ, et al.
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| Hum Genet 98 : 178-181. 1996
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| 38 | MTM1, MTMR1
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| A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast.
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| Laporte J, et al.
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| Nat Genet 13 : 175-182. 1996
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| 39 | ATP2B3, MTM1
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| Detection of a new polymorphism in the plasma-membrane Ca2+ ATPase isoform-3 gene and its exclusion as a candidate for X-linked myotubular myopathy (MTM1).
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| Smolenicka Z, et al.
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| Hum Genet 98 : 681-684. 1996
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| 40 | MTM1
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| X-linked myotubular myopathy : refinement of the critical gene region.
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| Smolenicka Z, et al.
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| Neuromuscul Disord 6 : 275-281. 1996
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| 41 | MTM1
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| X-linked myotubular myopathy : clinical observations in ten additional cases.
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| Joseph M, et al.
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| Am J Med Genet 59 : 168-173. 1995
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| 42 | MTM1
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| Myotubular myopathy in a girl with a deletion at Xq27-q28 and unbalanced X inactivation assigns the MTM1 gene to a 600-kb region.
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| Dahl N, et al.
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| Am J Hum Genet 56 : 1108-1115. 1995
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| 43 | MTM1
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| Genetic linkage heterogeneity in myotubular myopathy.
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| Samson F, et al.
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| Am J Hum Genet 57 : 120-126. 1995
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| 44 | MSDX, MTM1
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| Myotubular myopathy in a girl with a deletion at Xq27-q28 and unbalanced X inactivation assigns the MTM1 gene to a 600 kb region.
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| Dahl N, et al.
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| Am J Hum Genet 56 : 1108-1116. 1995
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| 45 | CNM1, MYF6, MTMR14, MTM1, DNM2
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| The myotubular myopathies: differential diagnosis of the X linked recessive, autosomal dominant, and autosomal recessive forms and present state of DNA studies.
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| Wallgren-Pettersson C, Clarke A, Samson F, Fardeau M, Dubowitz V, Moser H, Grimm T, Barohn RJ, Barth PG.
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| J Med Genet 32(9):673-9. Review. 1995
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| 46 | MTM1
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| The gene for X-linked myotubumar myopathy is located in an 8 Mb region at the border of Xq27.3 and Xq28.
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| Janssen EAM, et al.
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| Neuromuscul Disord 4 : 455-461. 1994
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| 47 | MTM1
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| X linked myotubular myopathy (MTM1) maps between DXS304 and DXS305, closely linked to the DXS455 VNTR and a new, highly informative microsatellite marker (DXS1684).
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| Dahl N, et al.
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| J Med Genet 31 : 922-924. 1994
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| 48 | MTM1
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| Interstitial deletion at Xq27-q28 in a girl with X-linked centronuclear myopathy.
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| Dahl N, et al.
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| Cytogenet Cell Genet 64 : 181. 1993
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| 49 | MTM1
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| X linked neonatal centronuclear/myotubular myopathy : evidence for linkage to Xq28 DNA marker loci.
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| Thomas NST, et al.
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| J Med Genet 27 : 284-287. 1990
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| 50 | MTM1
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| X-linked myotubular myopathy : a linkage study.
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| Darnfors C, et al.
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| Clin Genet 37 : 335-340. 1990
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| 51 | MTM1
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| A linkage study of a large pedigree with X linked centronuclear myopathy.
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| Starr J, et al.
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| J Med Genet 27 : 281-283. 1990
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| 52 | MTM1
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| X linked neonatal myotubular myopathy : one recombination detected with four polymorphic DNA markers from Xq28.
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| Lehesjoki AE, et al.
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| J Med Genet 27 : 288-291. 1990
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| 53 | MTM1
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| X-linked myotubular myopathy (MTM1) : evidence for linkage to Xq28 DNA markers.
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| Thomas NST, et al.
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| (HGM9) Cytogenet Cell Genet 46 : 704. 1987
|