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Select item 68152041.

Benjamin T. Cocanougher, Lauren Flynn, Pomi Yun, Minal Jain, Melissa Waite, Ruhi Vasavada, Jason D. Wittenbach, Sabine de Chastonay, Sameer Chhibber, A. Micheil Innes, Linda MacLaren, Tahseen Mozaffar, Andrew E. Arai, Sandra Donkervoort, Carsten G. Bönnemann, A. Reghan Foley

Neurology. 2019 Oct 15; 93(16): e1535–e1542. doi: 10.1212/WNL.0000000000008316

PMCID:: PMC6815204

Abstract Article PDF–590K

Select item 65031662.

Three novel MTM1 pathogenic variants identified in Japanese patients with X‐linked myotubular myopathy

Atsuko Nishikawa, Aritoshi Iida, Shinichiro Hayashi, Mariko Okubo, Yasushi Oya, Gaku Yamanaka, Ikuko Takahashi, Ikuya Nonaka, Satoru Noguchi, Ichizo Nishino

Mol Genet Genomic Med. 2019 May; 7(5): e621. Published online 2019 Mar 18. doi: 10.1002/mgg3.621

PMCID:: PMC6503166

Abstract Article PDF–996K

Select item 61607063.

Using exome sequencing to decipher family history in a healthy individual: Comparison of pathogenic and population MTM1 variants

Monica Penon, Hengameh Zahed, Victoria Berger, Irene Su, Joseph T. Shieh

Mol Genet Genomic Med. 2018 Sep; 6(5): 722–727. Published online 2018 Jul 25. doi: 10.1002/mgg3.405

PMCID:: PMC6160706

Abstract Article PDF–1.3M

Select item 48629614.

Novel findings associated with MTM1 suggest a higher number of female symptomatic carriers

Marco Savarese, Olimpia Musumeci, Teresa Giugliano, Anna Rubegni, Chiara Fiorillo, Fabiana Fattori, Annalaura Torella, Roberta Battini, Carmelo Rodolico, Aniello Pugliese, Giulio Piluso, Lorenzo Maggi, Adele D'Amico, Claudio Bruno, Enrico Bertini, Filippo Maria Santorelli, Marina Mora, Antonio Toscano, Carlo Minetti, Vincenzo Nigro

Neuromuscul Disord. 2016 Apr-May; 26(4-5): 292–299. doi: 10.1016/j.nmd.2016.02.004

PMCID:: PMC4862961

Abstract Article

Select item 36413785.

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

Jorge Oliveira, Márcia E Oliveira, Wolfram Kress, Ricardo Taipa, Manuel Melo Pires, Pascale Hilbert, Peter Baxter, Manuela Santos, Henk Buermans, Johan T den Dunnen, Rosário Santos

Eur J Hum Genet. 2013 May; 21(5): 540–549. Published online 2012 Sep 12. doi: 10.1038/ejhg.2012.201

PMCID:: PMC3641378

Abstract Article PDF–1.7M

Select item 31010446.

X-linked Myotubular Myopathy in a Family with Two Infant Siblings: A Case with MTM1 Mutation

Ji Hyun Jeon, Ran Namgung, Min Soo Park, Kook In Park, Chul Lee, Jin Sung Lee, Se Hoon Kim

Yonsei Med J. 2011 May 1; 52(3): 547–550. Published online 2011 Apr 6. doi: 10.3349/ymj.2011.52.3.547

PMCID:: PMC3101044

Abstract Article PDF–582K

Select item 20431497.

Myofiber Size Correlates with MTM1 Mutation Type and Outcome in X-linked Myotubular Myopathy

Christopher R. Pierson, Pankaj B. Agrawal, Jessica Blasko, Alan H. Beggs

Neuromuscul Disord. Author manuscript; available in PMC 2008 Jul 1.

Published in final edited form as: Neuromuscul Disord. 2007 Jul; 17(7): 562–568. Published online 2007 May 29. doi: 10.1016/j.nmd.2007.03.010

Correction in:: volume 18 on page 519

PMCID:: PMC2043149

Abstract Article PDF–584K

Select item 32639948.

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

Christopher R. Pierson, Ashley N. Dulin-Smith, Ashley N. Durban, Morgan L. Marshall, Jordan T. Marshall, Andrew D. Snyder, Nada Naiyer, Jordan T. Gladman, Dawn S. Chandler, Michael W. Lawlor, Anna Buj-Bello, James J. Dowling, Alan H. Beggs

Hum Mol Genet. 2012 Feb 15; 21(4): 811–825. Published online 2011 Nov 7. doi: 10.1093/hmg/ddr512

PMCID:: PMC3263994

Abstract Article PDF–579K

Select item 31033749.

Myotubularin Regulates Akt-dependent Survival Signaling via Phosphatidylinositol 3-Phosphate

Gina L. Razidlo, Dawn Katafiasz, Gregory S. Taylor

J Biol Chem. 2011 Jun 3; 286(22): 20005–20019. Published online 2011 Apr 8. doi: 10.1074/jbc.M110.197749

PMCID:: PMC3103374

Abstract Article PDF–2.2M

Select item 281578310.

From Dynamic Live Cell Imaging to 3D Ultrastructure: Novel Integrated Methods for High Pressure Freezing and Correlative Light-Electron Microscopy

Coralie Spiegelhalter, Valérie Tosch, Didier Hentsch, Marc Koch, Pascal Kessler, Yannick Schwab, Jocelyn Laporte

PLoS One. 2010; 5(2): e9014. Published online 2010 Feb 3. doi: 10.1371/journal.pone.0009014

PMCID:: PMC2815783

Abstract Article PDF–2.4M

Select item 277396411.

T-tubule disorganization and defective excitation-contraction coupling in muscle fibers lacking myotubularin lipid phosphatase

Lama Al-Qusairi, Norbert Weiss, Anne Toussaint, Céline Berbey, Nadia Messaddeq, Christine Kretz, Despina Sanoudou, Alan H. Beggs, Bruno Allard, Jean-Louis Mandel, Jocelyn Laporte, Vincent Jacquemond, Anna Buj-Bello

Proc Natl Acad Sci U S A. 2009 Nov 3; 106(44): 18763–18768. Published online 2009 Oct 21. doi: 10.1073/pnas.0900705106

PMCID:: PMC2773964

Abstract Article PDF–967K

Select item 885185612.

Circ_FURIN knockdown assuages Testosterone-induced human ovarian granulosa-like tumor cell disorders by sponging miR-423-5p to reduce MTM1 expression in polycystic ovary syndrome

Xia Xu, Rui Guan, Ke Gong, Huaibing Xie, Lei Shi

Reprod Biol Endocrinol. 2022; 20: 32. Published online 2022 Feb 17. doi: 10.1186/s12958-022-00891-9

PMCID:: PMC8851856

Abstract Article PDF–4.9M

Select item 412940613.

SPEG Interacts with Myotubularin, and Its Deficiency Causes Centronuclear Myopathy with Dilated Cardiomyopathy

Pankaj B. Agrawal, Christopher R. Pierson, Mugdha Joshi, Xiaoli Liu, Gianina Ravenscroft, Behzad Moghadaszadeh, Tiffany Talabere, Marissa Viola, Lindsay C. Swanson, Göknur Haliloğlu, Beril Talim, Kyle S. Yau, Richard J.N. Allcock, Nigel G. Laing, Mark A. Perrella, Alan H. Beggs

Am J Hum Genet. 2014 Aug 7; 95(2): 218–226. doi: 10.1016/j.ajhg.2014.07.004

PMCID:: PMC4129406

Abstract Article PDF–4.0M

Select item 52432014.

The lipid phosphatase myotubularin is essential for skeletal muscle maintenance but not for myogenesis in mice

Anna Buj-Bello, Vincent Laugel, Nadia Messaddeq, Hala Zahreddine, Jocelyn Laporte, Jean-François Pellissier, Jean-Louis Mandel

Proc Natl Acad Sci U S A. 2002 Nov 12; 99(23): 15060–15065. Published online 2002 Oct 21. doi: 10.1073/pnas.212498399

PMCID:: PMC524320

Abstract Article PDF–572K

Select item 368850315.

Loss of Catalytically Inactive Lipid Phosphatase Myotubularin-related Protein 12 Impairs Myotubularin Stability and Promotes Centronuclear Myopathy in Zebrafish

Vandana A. Gupta, Karim Hnia, Laura L. Smith, Stacey R. Gundry, Jessica E. McIntire, Junko Shimazu, Jessica R. Bass, Ethan A. Talbot, Leonela Amoasii, Nathaniel E. Goldman, Jocelyn Laporte, Alan H. Beggs

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

PMCID:: PMC3688503

Abstract Article PDF–15M

Select item 260752316.

Endosomal Phosphoinositides and Human Diseases

Anne-Sophie Nicot, Jocelyn Laporte

Traffic. 2008 Aug; 9(8): 1240–1249. Published online 2008 May 20. doi: 10.1111/j.1600-0854.2008.00754.x

PMCID:: PMC2607523

Abstract Article PDF–269K

Select item 380723117.

The myotubularin–amphiphysin 2 complex in membrane tubulation and centronuclear myopathies

Barbara Royer, Karim Hnia, Christos Gavriilidis, Hélène Tronchère, Valérie Tosch, Jocelyn Laporte

EMBO Rep. 2013 Oct; 14(10): 907–915. Published online 2013 Aug 6. doi: 10.1038/embor.2013.119

PMCID:: PMC3807231

Abstract Article PDF–1.4M

Select item 16636818.

Identification of myotubularin as the lipid phosphatase catalytic subunit associated with the 3-phosphatase adapter protein, 3-PAP

Harshal H. Nandurkar, Meredith Layton, Jocelyn Laporte, Carly Selan, Lisa Corcoran, Kevin K. Caldwell, Yasuhiro Mochizuki, Philip W. Majerus, Christina A. Mitchell

Proc Natl Acad Sci U S A. 2003 Jul 22; 100(15): 8660–8665. Published online 2003 Jul 7. doi: 10.1073/pnas.1033097100

PMCID:: PMC166368

Abstract Article PDF–542K

Select item 1679519.

Myotubularin, a protein tyrosine phosphatase mutated in myotubular myopathy, dephosphorylates the lipid second messenger, phosphatidylinositol 3-phosphate

Gregory S. Taylor, Tomohiko Maehama, Jack E. Dixon

Proc Natl Acad Sci U S A. 2000 Aug 1; 97(16): 8910–8915. Published online 2000 Jul 18. doi: 10.1073/pnas.160255697

PMCID:: PMC16795

Abstract Article PDF–254K

Select item 300715220.

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

Karim Hnia, Helene Tronchère, Kinga K. Tomczak, Leonela Amoasii, Patrick Schultz, Alan H. Beggs, Bernard Payrastre, Jean Louis Mandel, Jocelyn Laporte

J Clin Invest. 2011 Jan 4; 121(1): 70–85. Published online 2010 Dec 6. doi: 10.1172/JCI44021