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

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

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

http://www.wikidata.org/entity/Q28508977

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Myotubularin controls desmin intermediate filament architecture and mitochondrial dynamics in human and mouse skeletal muscle.Skeletal Muscle Pathology in X-Linked Myotubular Myopathy: Review With Cross-Species Comparisons Congenital myopathies: an update Defective membrane remodeling in neuromuscular diseases: insights from animal models Gait characteristics in a canine model of X-linked myotubular myopathy Loss of myotubularin function results in T-tubule disorganization in zebrafish and human myotubular myopathy Pathophysiological concepts in the congenital myopathies: blurring the boundaries, sharpening the focus The inositol phosphatase MTMR4 is a novel target of the ubiquitin ligase Nedd4 Differential muscle hypertrophy is associated with satellite cell numbers and Akt pathway activation following activin type IIB receptor inhibition in Mtm1 p.R69C mice The potential of adeno-associated viral vectors for gene delivery to muscle tissue.Gene therapy prolongs survival and restores function in murine and canine models of myotubular myopathy.SPEG interacts with myotubularin, and its deficiency causes centronuclear myopathy with dilated cardiomyopathy MTM1 mutation associated with X-linked myotubular myopathy in Labrador Retrievers.Gene therapy for inherited muscle diseases: where genetics meets rehabilitation medicine.The ubiquitin ligase Nedd4-1 participates in denervation-induced skeletal muscle atrophy in mice.Inhibition of activin receptor type IIB increases strength and lifespan in myotubularin-deficient mice.Mice lacking microRNA 133a develop dynamin 2–dependent centronuclear myopathy.T-tubule biogenesis and triad formation in skeletal muscle and implication in human diseases.Modeling the human MTM1 p.R69C mutation in murine Mtm1 results in exon 4 skipping and a less severe myotubular myopathy phenotype Myotubularin-deficient myoblasts display increased apoptosis, delayed proliferation, and poor cell engraftment.Phosphatase-dead myotubularin ameliorates X-linked centronuclear myopathy phenotypes in mice Myotubular myopathy and the neuromuscular junction: a novel therapeutic approach from mouse models.Enzyme replacement therapy rescues weakness and improves muscle pathology in mice with X-linked myotubular myopathy.Adeno-associated virus-mediated gene therapy for metabolic myopathy.T-tubule disorganization and defective excitation-contraction coupling in muscle fibers lacking myotubularin lipid phosphatase Calcium homeostasis alterations in a mouse model of the Dynamin 2-related centronuclear myopathy.Dynamin 2 the rescue for centronuclear myopathy.Barfly: sculpting membranes at the Drosophila neuromuscular junction.Gene therapy in monogenic congenital myopathies.Gene therapy in myotubular myopathy: promising progress and future directions.Systemic AAV8-Mediated Gene Therapy Drives Whole-Body Correction of Myotubular Myopathy in Dogs.Defective autophagy and mTORC1 signaling in myotubularin null mice.Gene replacement rescues severe muscle pathology and prolongs survival in myotubularin-deficient mice and dogs.Induced liver allograft immunological tolerance in rats by intramuscular injection of recombinant adeno-associated virus-human cytotoxic T-lymphocyte-associated antigen-4 immunoglobulin (rAAV-hCTLA4Ig).Downregulation of myostatin pathway in neuromuscular diseases may explain challenges of anti-myostatin therapeutic approaches.A multicenter, retrospective medical record review of X-linked myotubular myopathy: The recensus study.Intravenous Administration of a MTMR2-Encoding AAV Vector Ameliorates the Phenotype of Myotubular Myopathy in Mice.Single Intramuscular Injection of AAV-shRNA Reduces DNM2 and Prevents Myotubular Myopathy in Mice.The structure and function of cardiac t-tubules in health and disease.Myotubularins and associated neuromuscular diseases

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P2860

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

http://www.wikidata.org/entity/Q28508977

description

2008 nî lūn-bûn

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2008 թուականի Ապրիլին հրատարակուած գիտական յօդուած

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2008 թվականի ապրիլին հրատարակված գիտական հոդված

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2008年の論文

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2008年学术文章

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2008年学术文章

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2008年学术文章

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2008年学术文章

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2008年学术文章

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2008年學術文章

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AAV-mediated intramuscular del ...... in plasma membrane homeostasis

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AAV-mediated intramuscular del ...... in plasma membrane homeostasis

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AAV-mediated intramuscular del ...... in plasma membrane homeostasis

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AAV-mediated intramuscular del ...... in plasma membrane homeostasis

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AAV-mediated intramuscular del ...... in plasma membrane homeostasis

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AAV-mediated intramuscular del ...... in plasma membrane homeostasis

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AAV-mediated intramuscular del ...... in plasma membrane homeostasis

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AAV-mediated intramuscular del ...... in plasma membrane homeostasis

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Human Molecular Genetics

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AAV-mediated intramuscular del ...... in plasma membrane homeostasis

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Anna Buj-Bello

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Anne-Marie Douar

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Christine Kretz

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Christopher R Pierson

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Danièle Spehner

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Françoise Fougerousse

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Marie Montus

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Muriel Durand

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Nadia Messaddeq

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Olivier Danos

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P2860

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

Myotubularin regulates the function of the late endosome through the gram domain-phosphatidylinositol 3,5-bisphosphate interaction

Characterization of myotubularin-related protein 7 and its binding partner, myotubularin-related protein 9

Production of high-titer recombinant adeno-associated virus vectors in the absence of helper adenovirus

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

Amphiphysin is necessary for organization of the excitation-contraction coupling machinery of muscles, but not for synaptic vesicle endocytosis in Drosophila

MTM1 mutations in X-linked myotubular myopathy

Myotubularins, a large disease-associated family of cooperating catalytically active and inactive phosphoinositides phosphatases

Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease

Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy

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2132-2143

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scholarly article

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10.1093/HMG/DDN112

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14

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17

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Jean-Louis Mandel

Danièle Spehner

Nadia Messaddeq

Patrick Schultz

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2008-04-22T00:00:00Z

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5419255

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18434328

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2441725

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