Defects of Vps15 in skeletal muscles lead to autophagic vacuolar myopathy and lysosomal disease

EMBO Molecular Medicine

Volumn 5, Issue 6, 2013, Pages 870-890

  Nemazanyy, Ivan ^a,b   Blaauw, Bert ^c   Paolini, Cecilia ^d   Caillaud, Catherine ^a,b   Protasi, Feliciano ^d   Mueller, Amelie ^e   Proikas Cezanne, Tassula ^e   Russell, Ryan C ^f   Guan, Kun Liang ^f   Nishino, Ichizo ^g   Sandri, Marco ^c   Pende, Mario ^a,b   Panasyuk, Ganna ^a,b  

^a INSERM   (France)

^b UNIVERSITÉ PARIS DESCARTES   (France)

^c VENETIAN INSTITUTE OF MOLECULAR MEDICINE   (Italy)

^d UNIVERSITY OF CHIETI   (Italy)

^e UNIVERSITY OF TÜBINGEN   (Germany)

^f UNIVERSITY OF CALIFORNIA   (United States)

^g NATIONAL INSTITUTE OF NEUROSCIENCE   (Japan)

Author keywords

Autophagy; Human disease; Lysosomal storage disease; Mouse model; MTOR signalling

Indexed keywords

ADAPTOR PROTEIN; BECLIN 1; GLYCOGEN; LYSOSOME ASSOCIATED MEMBRANE PROTEIN 2; LYSOSOME ENZYME; MAMMALIAN TARGET OF RAPAMYCIN; PHOSPHATIDYLINOSITOL 3 KINASE; PROTEIN P62; PROTEIN SERINE THREONINE KINASE VPS15; WORTMANNIN;

ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; AUTOPHAGOSOME; AUTOPHAGY; CELL GROWTH; CELL MATURATION; CELL MUTANT; CONTROLLED STUDY; CREATINE KINASE BLOOD LEVEL; EXON; GENE OVEREXPRESSION; GENE TARGETING; HOMOLOGOUS RECOMBINATION; HUMAN; HUMAN CELL; IN VIVO GENE TRANSFER; KNOCKOUT MOUSE; LOXP SITE; LYSOSOME STORAGE DISEASE; MAMMAL CELL; MOUSE; MYOBLAST; MYOPATHY; NONHUMAN; PRIORITY JOURNAL; PROTEIN PHOSPHORYLATION; PROTEIN TARGETING; REGULATORY MECHANISM; SARCOLEMMA; SKELETAL MUSCLE; START CODON; TRANSLATION INITIATION;

ANIMALS; AUTOPHAGY; CELL LINE; CLASS III PHOSPHATIDYLINOSITOL 3-KINASES; HUMANS; LYSOSOMAL STORAGE DISEASES; LYSOSOMAL-ASSOCIATED MEMBRANE PROTEIN 2; MICE; MICE, KNOCKOUT; MICROTUBULE-ASSOCIATED PROTEINS; MUSCLE, SKELETAL; MUSCULAR DISEASES; TOR SERINE-THREONINE KINASES; TRANSCRIPTION FACTORS; VACUOLAR SORTING PROTEIN VPS15;

EID: 84878691312     PISSN: 17574676     EISSN: 17574684     Source Type: Journal    
DOI: 10.1002/emmm.201202057     Document Type: Article

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