AAV-mediated intramuscular delivery of myotubularin corrects the myotubular myopathy phenotype in targeted murine muscle and suggests a function in plasma membrane homeostasis
- Author
- BUJ-BELLO, Anna1 ; FOUGEROUSSE, Francoise2 ; BEGGS, Alan H5 ; SCHULTZ, Patrick4 ; MONTUS, Marie2 ; DENEFLE, Patrice2 ; MANDEL, Jean-Louis1 ; SCHWAB, Yannick3 ; MESSADDEQ, Nadia3 ; SPEHNER, Danièle4 ; PIERSON, Christopher R5 ; DURAND, Muriel2 ; KRETZ, Christine1 ; DANOS, Olivier2 ; DOUAR, Anne-Marie2
[1] Department of Neurobiology and Genetics, Institut de Génétique et de Biologie, Moléculaire et Cellulaire (IGBMC), INSERM U596, CNRS UMR 7104, Université Louis Pasteur de Strasbourg, Collège de France, 67404 Illkirch, France
[2] Gdndthon, R&D Department, 1 rue de l'lnternationale, 91000 Evry, France
[3] Imaging Center -Electron Microscopy, Institut de Génétique et de Biologie, Moléculaire et Cellulaire (IGBMC), INSERM U596, CNRS UMR 7104, Université Louis Pasteur de Strasbourg, Collège de France, 67404 Illkirch, France
[4] Department of Structural Biology and Genomics, Institut de Génétique et de Biologie, Moléculaire et Cellulaire (IGBMC), INSERM U596, CNRS UMR 7104, Université Louis Pasteur de Strasbourg, Collège de France, 67404 Illkirch, France
[5] Children's Hospital, Harvard Medical School, Boston, United States - Source
Human molecular genetics (Print). 2008, Vol 17, Num 14, pp 2132-2143, 12 p ; ref : 48 ref
- Publisher
- Oxford University Press, Oxford
- Publication country
- United Kingdom
- Document type
- Article
- Language
- English
- Keyword (fr)
- Dependovirus Génétique Homéostasie Membrane plasmique Muscle Myopathie myotubulaire Phénotype Souris Thérapie génique Vecteur Maladie congénitale Mammalia Parvoviridae Parvovirinae Pathologie du muscle strié Rodentia Vertebrata Virus
- Keyword (en)
- Dependovirus Genetics Homeostasis Plasma membrane Muscle Myotubular myopathy Phenotype Mouse Gene therapy Vector Congenital disease Mammalia Parvoviridae Parvovirinae Striated muscle disease Rodentia Vertebrata Virus
- Keyword (es)
- Dependovirus Genética Homeostasis Membrana plasmática Músculo Miopatía miotubular Fenotipo Ratón Terapia génica Vector Enfermedad congénita Mammalia Parvoviridae Parvovirinae Músculo estriado patología Rodentia Vertebrata Virus
- Classification
- Pascal
- 002 Biological and medical sciences / 002A Fundamental and applied biological sciences. Psychology / 002A04 Molecular and cellular biology
- Pascal
- 002 Biological and medical sciences / 002A Fundamental and applied biological sciences. Psychology / 002A07 Genetics of eukaryotes. Biological and molecular evolution
- Pascal
- 002 Biological and medical sciences / 002A Fundamental and applied biological sciences. Psychology / 002A31 Biotechnology / 002A31D Industrial applications and implications. Economical aspects / 002A31D01 Health. Pharmaceutical industry / 002A31D01D Gene therapy
- Discipline
- Biotechnology Eukaryotes genetics. Biological and molecular evolution Molecular and cell biology
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 20484060
Sauf mention contraire ci-dessus, le contenu de cette notice bibliographique peut être utilisé dans le cadre d’une licence CC BY 4.0 Inist-CNRS / Unless otherwise stated above, the content of this bibliographic record may be used under a CC BY 4.0 licence by Inist-CNRS / A menos que se haya señalado antes, el contenido de este registro bibliográfico puede ser utilizado al amparo de una licencia CC BY 4.0 Inist-CNRS
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DOI
10.1093/hmg/ddn112 
https://dx.doi.org/10.1093/hmg/ddn112
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