"A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast."
Laporte J. , Hu L.-J. , Kretz C. , Mandel J.-L. , Kioschis P. , Coy J. , Klauck S.M. , Poutska A. , Dahl N.
Nat. Genet.13:175-182(1996) [PubMed] [Europe PMC] [Abstract]

"Genomic organization of the MTM1 gene implicated in X-linked myotubular myopathy."
Laporte J. , Guiraud-Chaumeil C. , Tanner S.M. , Blondeau F. , Hu L.J. , Vicaire S. , Liechti-Gallati S. , Mandel J.-L.
Eur. J. Hum. Genet.6:325-330(1998) [PubMed] [Europe PMC] [Abstract]

"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T. , Suzuki Y. , Nishikawa T. , Otsuki T. , Sugiyama T. , Irie R. , Wakamatsu A. , Hayashi K. , Sato H. , Nagai K. , Kimura K. , Makita H. , Sekine M. , Obayashi M. , Nishi T. , Shibahara T. , Tanaka T. , Ishii S. , Yamamoto J. , Saito K. , Kawai Y. , Isono Y. , Nakamura Y. , Nagahari K. , Murakami K. , Yasuda T. , Iwayanagi T. , Wagatsuma M. , Shiratori A. , Sudo H. , Hosoiri T. , Kaku Y. , Kodaira H. , Kondo H. , Sugawara M. , Takahashi M. , Kanda K. , Yokoi T. , Furuya T. , Kikkawa E. , Omura Y. , Abe K. , Kamihara K. , Katsuta N. , Sato K. , Tanikawa M. , Yamazaki M. , Ninomiya K. , Ishibashi T. , Yamashita H. , Murakawa K. , Fujimori K. , Tanai H. , Kimata M. , Watanabe M. , Hiraoka S. , Chiba Y. , Ishida S. , Ono Y. , Takiguchi S. , Watanabe S. , Yosida M. , Hotuta T. , Kusano J. , Kanehori K. , Takahashi-Fujii A. , Hara H. , Tanase T.-O. , Nomura Y. , Togiya S. , Komai F. , Hara R. , Takeuchi K. , Arita M. , Imose N. , Musashino K. , Yuuki H. , Oshima A. , Sasaki N. , Aotsuka S. , Yoshikawa Y. , Matsunawa H. , Ichihara T. , Shiohata N. , Sano S. , Moriya S. , Momiyama H. , Satoh N. , Takami S. , Terashima Y. , Suzuki O. , Nakagawa S. , Senoh A. , Mizoguchi H. , Goto Y. , Shimizu F. , Wakebe H. , Hishigaki H. , Watanabe T. , Sugiyama A. , Takemoto M. , Kawakami B. , Yamazaki M. , Watanabe K. , Kumagai A. , Itakura S. , Fukuzumi Y. , Fujimori Y. , Komiyama M. , Tashiro H. , Tanigami A. , Fujiwara T. , Ono T. , Yamada K. , Fujii Y. , Ozaki K. , Hirao M. , Ohmori Y. , Kawabata A. , Hikiji T. , Kobatake N. , Inagaki H. , Ikema Y. , Okamoto S. , Okitani R. , Kawakami T. , Noguchi S. , Itoh T. , Shigeta K. , Senba T. , Matsumura K. , Nakajima Y. , Mizuno T. , Morinaga M. , Sasaki M. , Togashi T. , Oyama M. , Hata H. , Watanabe M. , Komatsu T. , Mizushima-Sugano J. , Satoh T. , Shirai Y. , Takahashi Y. , Nakagawa K. , Okumura K. , Nagase T. , Nomura N. , Kikuchi H. , Masuho Y. , Yamashita R. , Nakai K. , Yada T. , Nakamura Y. , Ohara O. , Isogai T. , Sugano S. more...
Nat. Genet.36:40-45(2004) [PubMed] [Europe PMC] [Abstract]

"The DNA sequence of the human X chromosome."
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Mural R.J. , Istrail S. , Sutton G. , Florea L. , Halpern A.L. , Mobarry C.M. , Lippert R. , Walenz B. , Shatkay H. , Dew I. , Miller J.R. , Flanigan M.J. , Edwards N.J. , Bolanos R. , Fasulo D. , Halldorsson B.V. , Hannenhalli S. , Turner R. , Yooseph S. , Lu F. , Nusskern D.R. , Shue B.C. , Zheng X.H. , Zhong F. , Delcher A.L. , Huson D.H. , Kravitz S.A. , Mouchard L. , Reinert K. , Remington K.A. , Clark A.G. , Waterman M.S. , Eichler E.E. , Adams M.D. , Hunkapiller M.W. , Myers E.W. , Venter J.C. more...
Submitted (2005-07) to the EMBL/GenBank/DDBJ databases

"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res.14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]

"Association of SET domain and myotubularin-related proteins modulates growth control."
Cui X. , De Vivo I. , Slany R. , Miyamoto A. , Firestein R. , Cleary M.L.
Nat. Genet.18:331-337(1998) [PubMed] [Europe PMC] [Abstract]

"MTM1 mutations in X-linked myotubular myopathy."
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Hum. Mutat.15:393-409(2000) [PubMed] [Europe PMC] [Abstract]

"Myotubularin, a phosphatase deficient in myotubular myopathy, acts on phosphatidylinositol 3-kinase and phosphatidylinositol 3-phosphate pathway."
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Hum. Mol. Genet.9:2223-2229(2000) [PubMed] [Europe PMC] [Abstract]

"Myotubularin, a protein tyrosine phosphatase mutated in myotubular myopathy, dephosphorylates the lipid second messenger, phosphatidylinositol 3-phosphate."
Taylor G.S. , Maehama T. , Dixon J.E.
Proc. Natl. Acad. Sci. U.S.A.97:8910-8915(2000) [PubMed] [Europe PMC] [Abstract]

"The PtdIns3P phosphatase myotubularin is a cytoplasmic protein that also localizes to Rac1-inducible plasma membrane ruffles."
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J. Cell Sci.115:3105-3117(2002) [PubMed] [Europe PMC] [Abstract]

"Phosphatidylinositol-5-phosphate activation and conserved substrate specificity of the myotubularin phosphatidylinositol 3-phosphatases."
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Curr. Biol.13:504-509(2003) [PubMed] [Europe PMC] [Abstract]

"Identification of myotubularin as the lipid phosphatase catalytic subunit associated with the 3-phosphatase adapter protein, 3-PAP."
Nandurkar H.H. , Layton M. , Laporte J. , Selan C. , Corcoran L. , Caldwell K.K. , Mochizuki Y. , Majerus P.W. , Mitchell C.A.
Proc. Natl. Acad. Sci. U.S.A.100:8660-8665(2003) [PubMed] [Europe PMC] [Abstract]

"Myotubularin regulates the function of the late endosome through the gram domain-phosphatidylinositol 3,5-bisphosphate interaction."
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"A probability-based approach for high-throughput protein phosphorylation analysis and site localization."
Beausoleil S.A. , Villen J. , Gerber S.A. , Rush J. , Gygi S.P.
Nat. Biotechnol.24:1285-1292(2006) [PubMed] [Europe PMC] [Abstract]

"A quantitative atlas of mitotic phosphorylation."
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Proc. Natl. Acad. Sci. U.S.A.105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract]

"Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
Olsen J.V. , Vermeulen M. , Santamaria A. , Kumar C. , Miller M.L. , Jensen L.J. , Gnad F. , Cox J. , Jensen T.S. , Nigg E.A. , Brunak S. , Mann M.
Sci. Signal.3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]

"Initial characterization of the human central proteome."
Burkard T.R. , Planyavsky M. , Kaupe I. , Breitwieser F.P. , Buerckstuemmer T. , Bennett K.L. , Superti-Furga G. , Colinge J.
BMC Syst. Biol.5:17-17(2011) [PubMed] [Europe PMC] [Abstract]

"Myotubularin controls desmin intermediate filament architecture and mitochondrial dynamics in human and mouse skeletal muscle."
Hnia K. , Tronchere H. , Tomczak K.K. , Amoasii L. , Schultz P. , Beggs A.H. , Payrastre B. , Mandel J.L. , Laporte J.
J. Clin. Invest.121:70-85(2011) [PubMed] [Europe PMC] [Abstract]

"SPEG interacts with myotubularin, and its deficiency causes centronuclear myopathy with dilated cardiomyopathy."
Agrawal P.B. , Pierson C.R. , Joshi M. , Liu X. , Ravenscroft G. , Moghadaszadeh B. , Talabere T. , Viola M. , Swanson L.C. , Haliloglu G. , Talim B. , Yau K.S. , Allcock R.J. , Laing N.G. , Perrella M.A. , Beggs A.H.
Am. J. Hum. Genet.95:218-226(2014) [PubMed] [Europe PMC] [Abstract]

"Characterization of mutations in the myotubularin gene in twenty six patients with X-linked myotubular myopathy."
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Hum. Mol. Genet.6:1499-1504(1997) [PubMed] [Europe PMC] [Abstract]

"Mutations in the MTM1 gene implicated in X-linked myotubular myopathy."
Laporte J. , Guiraud-Chaumeil C. , Vincent M.-C. , Mandel J.-L. , Tanner S.M. , Liechti-Gallati S. , Wallgren-Pettersson C. , Dahl N. , Kress W. , Bolhuis P.A. , Fardeau M. , Samson F. , Bertini E.
Hum. Mol. Genet.6:1505-1511(1997) [PubMed] [Europe PMC] [Abstract]

"MTM1 gene mutations in Japanese patients with the severe infantile form of myotubular myopathy."
Nishino I. , Minami N. , Kobayashi O. , Ikezawa M. , Goto Y. , Arahata K. , Nonaka I.
Neuromuscul. Disord.8:453-458(1998) [PubMed] [Europe PMC] [Abstract]

"Germline mosaicism in X-linked myotubular myopathy."
Haene B.G. , Rogers R.C. , Schwartz C.E.
Clin. Genet.56:77-81(1999) [PubMed] [Europe PMC] [Abstract]

"Identification of novel mutations in the MTM1 gene causing severe and mild forms of X-linked myotubular myopathy."
Buj-Bello A. , Biancalana V. , Moutou C. , Laporte J. , Mandel J.-L.
Hum. Mutat.14:320-325(1999) [PubMed] [Europe PMC] [Abstract]

"Characterization of 34 novel and six known MTM1 gene mutations in 47 unrelated X-linked myotubular myopathy patients."
Tanner S.M. , Schneider V. , Thomas N.S.T. , Clarke A. , Lazarou L. , Liechti-Gallati S.
Neuromuscul. Disord.9:41-49(1999) [PubMed] [Europe PMC] [Abstract]

"Characterization of mutations in fifty North American patients with X-linked myotubular myopathy."
Herman G.E. , Kopacz K. , Zhao W. , Mills P.L. , Metzenberg A. , Das S.
Hum. Mutat.19:114-121(2002) [PubMed] [Europe PMC] [Abstract]

"Rapid scanning of myotubularin (MTM1) gene by denaturing high-performance liquid chromatography (DHPLC)."
Flex E. , De Luca A. , D'Apice M.R. , Buccino A. , Dallapiccola B. , Novelli G.
Neuromuscul. Disord.12:501-505(2002) [PubMed] [Europe PMC] [Abstract]

"X-linked myotubular myopathy in a family with three adult survivors."
Yu S. , Manson J. , White S. , Bourne A. , Waddy H. , Davis M. , Haan E.
Clin. Genet.64:148-152(2003) [PubMed] [Europe PMC] [Abstract]

"Characterisation of mutations in 77 patients with X-linked myotubular myopathy, including a family with a very mild phenotype."
Biancalana V. , Caron O. , Gallati S. , Baas F. , Kress W. , Novelli G. , D'Apice M.R. , Lagier-Tourenne C. , Buj-Bello A. , Romero N.B. , Mandel J.-L.
Hum. Genet.112:135-142(2003) [PubMed] [Europe PMC] [Abstract]

"Extreme phenotypic variability in a German family with X-linked myotubular myopathy associated with E404K mutation in MTM1."
Hoffjan S. , Thiels C. , Vorgerd M. , Neuen-Jacob E. , Epplen J.T. , Kress W.
Neuromuscul. Disord.16:749-753(2006) [PubMed] [Europe PMC] [Abstract]

"X-linked myotubular myopathy with a novel MTM1 mutation in a Taiwanese child."
Chang C.Y. , Lin S.P. , Lin H.Y. , Chuang C.K. , Ho C.S. , Su Y.N.
J. Formos. Med. Assoc.107:965-970(2008) [PubMed] [Europe PMC] [Abstract]