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Items: 1 to 20 of 160

1.

Myotubularin controls desmin intermediate filament architecture and mitochondrial dynamics in human and mouse skeletal muscle.

Hnia K, Tronchère H, Tomczak KK, Amoasii L, Schultz P, Beggs AH, Payrastre B, Mandel JL, Laporte J.

J Clin Invest. 2011 Jan;121(1):70-85. doi: 10.1172/JCI44021. Epub 2010 Dec 6.

2.

Phosphatase-dead myotubularin ameliorates X-linked centronuclear myopathy phenotypes in mice.

Amoasii L, Bertazzi DL, Tronchère H, Hnia K, Chicanne G, Rinaldi B, Cowling BS, Ferry A, Klaholz B, Payrastre B, Laporte J, Friant S.

PLoS Genet. 2012;8(10):e1002965. doi: 10.1371/journal.pgen.1002965. Epub 2012 Oct 11.

3.

Site-specific Mtm1 mutagenesis by an AAV-Cre vector reveals that myotubularin is essential in adult muscle.

Joubert R, Vignaud A, Le M, Moal C, Messaddeq N, Buj-Bello A.

Hum Mol Genet. 2013 May 1;22(9):1856-66. doi: 10.1093/hmg/ddt038. Epub 2013 Feb 5.

PMID:
23390130
4.

SPEG interacts with myotubularin, and its deficiency causes centronuclear myopathy with dilated cardiomyopathy.

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.

Am J Hum Genet. 2014 Aug 7;95(2):218-26. doi: 10.1016/j.ajhg.2014.07.004. Epub 2014 Jul 31.

5.

[The myotubularin-desmin complex regulates mitochondria dynamics].

Hnia K, Laporte J.

Med Sci (Paris). 2011 May;27(5):458-60. doi: 10.1051/medsci/2011275004. Epub 2011 May 25. French. No abstract available.

6.

Myotubularin and PtdIns3P remodel the sarcoplasmic reticulum in muscle in vivo.

Amoasii L, Hnia K, Chicanne G, Brech A, Cowling BS, Müller MM, Schwab Y, Koebel P, Ferry A, Payrastre B, Laporte J.

J Cell Sci. 2013 Apr 15;126(Pt 8):1806-19. doi: 10.1242/jcs.118505. Epub 2013 Feb 26.

7.

Lack of myotubularin (MTM1) leads to muscle hypotrophy through unbalanced regulation of the autophagy and ubiquitin-proteasome pathways.

Al-Qusairi L, Prokic I, Amoasii L, Kretz C, Messaddeq N, Mandel JL, Laporte J.

FASEB J. 2013 Aug;27(8):3384-94. doi: 10.1096/fj.12-220947. Epub 2013 May 21.

PMID:
23695157
8.

Modeling the human MTM1 p.R69C mutation in murine Mtm1 results in exon 4 skipping and a less severe myotubular myopathy phenotype.

Pierson CR, Dulin-Smith AN, Durban AN, Marshall ML, Marshall JT, Snyder AD, Naiyer N, Gladman JT, Chandler DS, Lawlor MW, Buj-Bello A, Dowling JJ, Beggs AH.

Hum Mol Genet. 2012 Feb 15;21(4):811-25. doi: 10.1093/hmg/ddr512. Epub 2011 Nov 7.

9.

Loss of catalytically inactive lipid phosphatase myotubularin-related protein 12 impairs myotubularin stability and promotes centronuclear myopathy in zebrafish.

Gupta VA, Hnia K, Smith LL, Gundry SR, McIntire JE, Shimazu J, Bass JR, Talbot EA, Amoasii L, Goldman NE, Laporte J, Beggs AH.

PLoS Genet. 2013 Jun;9(6):e1003583. doi: 10.1371/journal.pgen.1003583. Epub 2013 Jun 20.

10.

MTM1 mutation associated with X-linked myotubular myopathy in Labrador Retrievers.

Beggs AH, Böhm J, Snead E, Kozlowski M, Maurer M, Minor K, Childers MK, Taylor SM, Hitte C, Mickelson JR, Guo LT, Mizisin AP, Buj-Bello A, Tiret L, Laporte J, Shelton GD.

Proc Natl Acad Sci U S A. 2010 Aug 17;107(33):14697-702. doi: 10.1073/pnas.1003677107. Epub 2010 Aug 3.

11.

AAV-mediated intramuscular delivery of myotubularin corrects the myotubular myopathy phenotype in targeted murine muscle and suggests a function in plasma membrane homeostasis.

Buj-Bello A, Fougerousse F, Schwab Y, Messaddeq N, Spehner D, Pierson CR, Durand M, Kretz C, Danos O, Douar AM, Beggs AH, Schultz P, Montus M, Denèfle P, Mandel JL.

Hum Mol Genet. 2008 Jul 15;17(14):2132-43. doi: 10.1093/hmg/ddn112. Epub 2008 Apr 22.

12.

Defects in amphiphysin 2 (BIN1) and triads in several forms of centronuclear myopathies.

Toussaint A, Cowling BS, Hnia K, Mohr M, Oldfors A, Schwab Y, Yis U, Maisonobe T, Stojkovic T, Wallgren-Pettersson C, Laugel V, Echaniz-Laguna A, Mandel JL, Nishino I, Laporte J.

Acta Neuropathol. 2011 Feb;121(2):253-66. doi: 10.1007/s00401-010-0754-2. Epub 2010 Oct 7.

PMID:
20927630
13.

The myotubularin-amphiphysin 2 complex in membrane tubulation and centronuclear myopathies.

Royer B, Hnia K, Gavriilidis C, Tronchère H, Tosch V, Laporte J.

EMBO Rep. 2013 Oct;14(10):907-15. doi: 10.1038/embor.2013.119. Epub 2013 Aug 6.

14.

"Necklace" fibers, a new histological marker of late-onset MTM1-related centronuclear myopathy.

Bevilacqua JA, Bitoun M, Biancalana V, Oldfors A, Stoltenburg G, Claeys KG, Lacène E, Brochier G, Manéré L, Laforêt P, Eymard B, Guicheney P, Fardeau M, Romero NB.

Acta Neuropathol. 2009 Mar;117(3):283-91. doi: 10.1007/s00401-008-0472-1. Epub 2008 Dec 16.

PMID:
19084976
15.

Reducing dynamin 2 expression rescues X-linked centronuclear myopathy.

Cowling BS, Chevremont T, Prokic I, Kretz C, Ferry A, Coirault C, Koutsopoulos O, Laugel V, Romero NB, Laporte J.

J Clin Invest. 2014 Mar;124(3):1350-63. doi: 10.1172/JCI71206. Epub 2014 Feb 24.

16.

Expression of myotubularins in blood platelets: Characterization and potential diagnostic of X-linked myotubular myopathy.

Mansour R, Severin S, Xuereb JM, Gratacap MP, Laporte J, Buj-Bello A, Tronchère H, Payrastre B.

Biochem Biophys Res Commun. 2016 Jul 29;476(3):167-73. doi: 10.1016/j.bbrc.2016.04.127. Epub 2016 May 4.

PMID:
27155155
17.

Large duplication in MTM1 associated with myotubular myopathy.

Amburgey K, Lawlor MW, Del Gaudio D, Cheng YW, Fitzpatrick C, Minor A, Li X, Aughton D, Das S, Beggs AH, Dowling JJ.

Neuromuscul Disord. 2013 Mar;23(3):214-8. doi: 10.1016/j.nmd.2012.11.010. Epub 2012 Dec 28.

18.

Expanding the MTM1 mutational spectrum: novel variants including the first multi-exonic duplication and development of a locus-specific database.

Oliveira J, Oliveira ME, Kress W, Taipa R, Pires MM, Hilbert P, Baxter P, Santos M, Buermans H, den Dunnen JT, Santos R.

Eur J Hum Genet. 2013 May;21(5):540-9. doi: 10.1038/ejhg.2012.201. Epub 2012 Sep 12.

19.

Zebrafish MTMR14 is required for excitation-contraction coupling, developmental motor function and the regulation of autophagy.

Dowling JJ, Low SE, Busta AS, Feldman EL.

Hum Mol Genet. 2010 Jul 1;19(13):2668-81. doi: 10.1093/hmg/ddq153. Epub 2010 Apr 16.

20.

Association of mitochondria with plectin and desmin intermediate filaments in striated muscle.

Reipert S, Steinböck F, Fischer I, Bittner RE, Zeöld A, Wiche G.

Exp Cell Res. 1999 Nov 1;252(2):479-91.

PMID:
10527638

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