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Items: 1 to 20 of 109

1.

Crystal structure of a phosphoinositide phosphatase, MTMR2: insights into myotubular myopathy and Charcot-Marie-Tooth syndrome.

Begley MJ, Taylor GS, Kim SA, Veine DM, Dixon JE, Stuckey JA.

Mol Cell. 2003 Dec;12(6):1391-402.

2.

Myotubularin and MTMR2, phosphatidylinositol 3-phosphatases mutated in myotubular myopathy and type 4B Charcot-Marie-Tooth disease.

Kim SA, Taylor GS, Torgersen KM, Dixon JE.

J Biol Chem. 2002 Feb 8;277(6):4526-31. Epub 2001 Dec 3.

3.

The structure and regulation of myotubularin phosphatases.

Begley MJ, Dixon JE.

Curr Opin Struct Biol. 2005 Dec;15(6):614-20. Epub 2005 Nov 9. Review.

PMID:
16289848
4.

Loss of phosphatase activity in myotubularin-related protein 2 is associated with Charcot-Marie-Tooth disease type 4B1.

Berger P, Bonneick S, Willi S, Wymann M, Suter U.

Hum Mol Genet. 2002 Jun 15;11(13):1569-79.

PMID:
12045210
5.

The myotubularin family: from genetic disease to phosphoinositide metabolism.

Laporte J, Blondeau F, Buj-Bello A, Mandel JL.

Trends Genet. 2001 Apr;17(4):221-8.

PMID:
11275328
7.

The myotubularin family: novel phosphoinositide regulators.

Nandurkar HH, Huysmans R.

IUBMB Life. 2002 Jan;53(1):37-43. Review.

8.

Membrane association of myotubularin-related protein 2 is mediated by a pleckstrin homology-GRAM domain and a coiled-coil dimerization module.

Berger P, Schaffitzel C, Berger I, Ban N, Suter U.

Proc Natl Acad Sci U S A. 2003 Oct 14;100(21):12177-82. Epub 2003 Oct 6.

9.

Diagnosis of X-linked myotubular myopathy by detection of myotubularin.

Laporte J, Kress W, Mandel JL.

Ann Neurol. 2001 Jul;50(1):42-6.

PMID:
11456308
10.

Mutations in MTMR13, a new pseudophosphatase homologue of MTMR2 and Sbf1, in two families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease associated with early-onset glaucoma.

Azzedine H, Bolino A, Taïeb T, Birouk N, Di Duca M, Bouhouche A, Benamou S, Mrabet A, Hammadouche T, Chkili T, Gouider R, Ravazzolo R, Brice A, Laporte J, LeGuern E.

Am J Hum Genet. 2003 May;72(5):1141-53. Epub 2003 Apr 8.

11.

Regulation of myotubularin-related (MTMR)2 phosphatidylinositol phosphatase by MTMR5, a catalytically inactive phosphatase.

Kim SA, Vacratsis PO, Firestein R, Cleary ML, Dixon JE.

Proc Natl Acad Sci U S A. 2003 Apr 15;100(8):4492-7. Epub 2003 Mar 31.

12.

Myotubularin phosphatases: policing 3-phosphoinositides.

Robinson FL, Dixon JE.

Trends Cell Biol. 2006 Aug;16(8):403-12. Epub 2006 Jul 7. Review.

PMID:
16828287
13.

Myotubularin phosphoinositide phosphatases in human diseases.

Amoasii L, Hnia K, Laporte J.

Curr Top Microbiol Immunol. 2012;362:209-33. doi: 10.1007/978-94-007-5025-8_10. Review.

PMID:
23086420
14.

Molecular characterization and expression analysis of Mtmr2, mouse homologue of MTMR2, the Myotubularin-related 2 gene, mutated in CMT4B.

Bolino A, Marigo V, Ferrera F, Loader J, Romio L, Leoni A, Di Duca M, Cinti R, Cecchi C, Feltri ML, Wrabetz L, Ravazzolo R, Monaco AP.

Gene. 2002 Jan 23;283(1-2):17-26.

PMID:
11867209
15.

A novel PtdIns3P and PtdIns(3,5)P2 phosphatase with an inactivating variant in centronuclear myopathy.

Tosch V, Rohde HM, Tronchère H, Zanoteli E, Monroy N, Kretz C, Dondaine N, Payrastre B, Mandel JL, Laporte J.

Hum Mol Genet. 2006 Nov 1;15(21):3098-106. Epub 2006 Sep 28.

PMID:
17008356
16.

Myotubularin, a phosphatase deficient in myotubular myopathy, acts on phosphatidylinositol 3-kinase and phosphatidylinositol 3-phosphate pathway.

Blondeau F, Laporte J, Bodin S, Superti-Furga G, Payrastre B, Mandel JL.

Hum Mol Genet. 2000 Sep 22;9(15):2223-9.

PMID:
11001925
17.

Multi-level regulation of myotubularin-related protein-2 phosphatase activity by myotubularin-related protein-13/set-binding factor-2.

Berger P, Berger I, Schaffitzel C, Tersar K, Volkmer B, Suter U.

Hum Mol Genet. 2006 Feb 15;15(4):569-79. Epub 2006 Jan 6.

PMID:
16399794
18.

118th ENMC International Workshop on Advances in Myotubular Myopathy. 26-28 September 2003, Naarden, The Netherlands. (5th Workshop of the International Consortium on Myotubular Myopathy).

Bertini E, Biancalana V, Bolino A, Buj Bello A, Clague M, Guicheney P, Jungbluth H, Kress W, Musaro' A, Nandurkar H, Pirola L, Romero N, Senderek J, Suter U, Sewry C, Tronchere H, Wallgren-Pettersson C, Wishart MJ, Laporte J.

Neuromuscul Disord. 2004 Jun;14(6):387-96. No abstract available.

PMID:
15145343
19.

Endosomal targeting of the phosphoinositide 3-phosphatase MTMR2 is regulated by an N-terminal phosphorylation site.

Franklin NE, Taylor GS, Vacratsis PO.

J Biol Chem. 2011 May 6;286(18):15841-53. doi: 10.1074/jbc.M110.209122. Epub 2011 Mar 3.

20.

Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2.

Bolino A, Muglia M, Conforti FL, LeGuern E, Salih MA, Georgiou DM, Christodoulou K, Hausmanowa-Petrusewicz I, Mandich P, Schenone A, Gambardella A, Bono F, Quattrone A, Devoto M, Monaco AP.

Nat Genet. 2000 May;25(1):17-9.

PMID:
10802647

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