VMA21 deficiency prevents vacuolar ATPase assembly and causes autophagic vacuolar myopathy

Acta Neuropathologica

Volumn 125, Issue 3, 2013, Pages 439-457

  Ramachandran, Nivetha ^a   Munteanu, Iulia ^a,b,c   Wang, Peixiang ^a   Ruggieri, Alessandra ^a   Rilstone, Jennifer J ^a,b   Israelian, Nyrie ^a   Naranian, Taline ^a   Paroutis, Paul ^a   Guo, Ray ^a   Ren, Zhi Ping ^a   Nishino, Ichizo ^d   Chabrol, Brigitte ^e   Pellissier, Jean Francois ^e   Minetti, Carlo ^f   Udd, Bjarne ^g   Fardeau, Michel ^h   Tailor, Chetankumar S ^a   Mahuran, Don J ^a   Kissel, John T ⁱ   Kalimo, Hannu ^j,k   Levy, Nicolas ^l   Manolson, Morris F ^m   Ackerley, Cameron A ^a   Minassian, Berge A ^a,b   more..

^a HOSPITAL FOR SICK CHILDREN   (Canada)

^b UNIVERSITY OF TORONTO   (Canada)

^c UNIVERSITY COLLEGE LONDON   (United Kingdom)

^d NATIONAL INSTITUTE OF MENTAL HEALTH   (Japan)

^e TIMONE HOSPITAL   (France)

^f UNIVERSITY OF GENOA   (Italy)

^g VAASA CENTRAL HOSPITAL   (Finland)

^h PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

ⁱ OHIO STATE UNIVERSITY   (United States)

^j UNIVERSITY OF HELSINKI   (Finland)

^k UNIVERSITY OF TURKU   (Finland)

^l AIX MARSEILLE UNIVERSITY   (France)

^m UNIVERSITY OF TORONTO   (Canada)

more..

Author keywords

Autophagy; Lysosomal acidification; Splicing mutations; Vacuolar ATP ase; Vacuolar myopathy

Indexed keywords

ADENOSINE TRIPHOSPHATASE; BECLIN 1; PHOSPHATIDYLINOSITOL 3 KINASE; UNCLASSIFIED DRUG; V ADENOSINE TRIPHOSPHATASE;

ARTICLE; AUTOLYSOSOME; CELL VACUOLE; CONTROLLED STUDY; DOWN REGULATION; ENZYME ACTIVITY; ENZYME PHOSPHORYLATION; EXON; GENE; GENE DISRUPTION; GENE FREQUENCY; GENE IDENTIFICATION; GENE LOCATION; GENETIC VARIABILITY; HUMAN; HUMAN TISSUE; INTRACELLULAR SIGNALING; INTRON; MACROAUTOPHAGY; MALE; MOLECULAR PATHOLOGY; MUSCLE ATROPHY; MUTATIONAL ANALYSIS; MYOPATHY; NEUROPATHOLOGY; PRIORITY JOURNAL; PROTEIN DEGRADATION; PROTEIN PROTEIN INTERACTION; VMA21 GENE; X LINKED MYOPATHY WITH EXCESSIVE AUTOPHAGY;

ADENOSINE TRIPHOSPHATASES; ANIMALS; AUTOPHAGY; CELLS, CULTURED; HUMANS; HYDROGEN-ION CONCENTRATION; LEUCINE; LYSOSOMAL STORAGE DISEASES; LYSOSOMES; MALE; MICE; MUSCLE, SKELETAL; MUSCULAR DISEASES; MUTATION; RNA INTERFERENCE; RNA, MESSENGER; SACCHAROMYCES CEREVISIAE; SACCHAROMYCES CEREVISIAE PROTEINS; SUBCELLULAR FRACTIONS; TIME FACTORS; VACUOLAR PROTON-TRANSLOCATING ATPASES; VACUOLES;

EID: 84876840432     PISSN: 00016322     EISSN: 14320533     Source Type: Journal    
DOI: 10.1007/s00401-012-1073-6     Document Type: Article

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