Literature DB >> 26605303

Gene replacement rescues severe muscle pathology and prolongs survival in myotubularin-deficient mice and dogs.

Martin K Childers1, Alan H Beggs1, Ana Buj-Bello1.   

Abstract

Entities:  

Year:  2015        PMID： 26605303      PMCID： PMC4620094          DOI： 10.3978/j.issn.2305-5839.2015.10.01

Source DB:  PubMed          Journal:  Ann Transl Med        ISSN： 2305-5839


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  14 in total

1.  Medical complications in long-term survivors with X-linked myotubular myopathy.

Authors:  G E Herman; M Finegold; W Zhao; B de Gouyon; A Metzenberg
Journal:  J Pediatr       Date:  1999-02       Impact factor: 4.406

2.  Gene therapy in myotubular myopathy: promising progress and future directions.

Authors:  Christopher R Pierson
Journal:  Ann Transl Med       Date:  2015-04

3.  Gene therapy prolongs survival and restores function in murine and canine models of myotubular myopathy.

Authors:  Martin K Childers; Romain Joubert; Karine Poulard; Christelle Moal; Robert W Grange; Jonathan A Doering; Michael W Lawlor; Branden E Rider; Thibaud Jamet; Nathalie Danièle; Samia Martin; Christel Rivière; Thomas Soker; Caroline Hammer; Laetitia Van Wittenberghe; Mandy Lockard; Xuan Guan; Melissa Goddard; Erin Mitchell; Jane Barber; J Koudy Williams; David L Mack; Mark E Furth; Alban Vignaud; Carole Masurier; Fulvio Mavilio; Philippe Moullier; Alan H Beggs; Anna Buj-Bello
Journal:  Sci Transl Med       Date:  2014-01-22       Impact factor: 17.956

4.  Identification of novel mutations in the MTM1 gene causing severe and mild forms of X-linked myotubular myopathy.

Authors:  A Buj-Bello; V Biancalana; C Moutou; J Laporte; J L Mandel
Journal:  Hum Mutat       Date:  1999       Impact factor: 4.878

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

Authors:  Alan H Beggs; Johann Böhm; Elizabeth Snead; Marek Kozlowski; Marie Maurer; Katie Minor; Martin K Childers; Susan M Taylor; Christophe Hitte; James R Mickelson; Ling T Guo; Andrew P Mizisin; Anna Buj-Bello; Laurent Tiret; Jocelyn Laporte; G Diane Shelton
Journal:  Proc Natl Acad Sci U S A       Date:  2010-08-03       Impact factor: 11.205

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

Authors:  Karim Hnia; Helene Tronchère; Kinga K Tomczak; Leonela Amoasii; Patrick Schultz; Alan H Beggs; Bernard Payrastre; Jean Louis Mandel; Jocelyn Laporte
Journal:  J Clin Invest       Date:  2010-12-06       Impact factor: 14.808

7.  A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast.

Authors:  J Laporte; L J Hu; C Kretz; J L Mandel; P Kioschis; J F Coy; S M Klauck; A Poustka; N Dahl
Journal:  Nat Genet       Date:  1996-06       Impact factor: 38.330

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

Authors:  Anna Buj-Bello; Vincent Laugel; Nadia Messaddeq; Hala Zahreddine; Jocelyn Laporte; Jean-Francois Pellissier; Jean-Louis Mandel
Journal:  Proc Natl Acad Sci U S A       Date:  2002-10-21       Impact factor: 11.205

9.  The PtdIns3P phosphatase myotubularin is a cytoplasmic protein that also localizes to Rac1-inducible plasma membrane ruffles.

Authors:  Jocelyn Laporte; Francois Blondeau; Anne Gansmuller; Yves Lutz; Jean-Luc Vonesch; Jean-Louis Mandel
Journal:  J Cell Sci       Date:  2002-08-01       Impact factor: 5.285

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

Authors:  Anna Buj-Bello; Françoise Fougerousse; Yannick Schwab; Nadia Messaddeq; Danièle Spehner; Christopher R Pierson; Muriel Durand; Christine Kretz; Olivier Danos; Anne-Marie Douar; Alan H Beggs; Patrick Schultz; Marie Montus; Patrice Denèfle; Jean-Louis Mandel
Journal:  Hum Mol Genet       Date:  2008-04-22       Impact factor: 6.150
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  1 in total

1.  PIK3C2B inhibition improves function and prolongs survival in myotubular myopathy animal models.

Authors:  Nesrin Sabha; Jonathan R Volpatti; Hernan Gonorazky; Aaron Reifler; Ann E Davidson; Xingli Li; Nadine M Eltayeb; Claudia Dall'Armi; Gilbert Di Paolo; Susan V Brooks; Ana Buj-Bello; Eva L Feldman; James J Dowling
Journal:  J Clin Invest       Date:  2016-08-22       Impact factor: 14.808
  1 in total

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