OPA1 mutations associated with dominant optic atrophy impair oxidative phosphorylation and mitochondrial fusion

Brain

Volumn 131, Issue 2, 2008, Pages 352-367

  Zanna, Claudia ^a   Ghelli, Anna ^a   Porcelli, Anna Maria ^a   Karbowski, Mariusz ^b   Youle, Richard J ^b   Schimpf, Simone ^c   Wissinger, Bernd ^c   Pinti, Marcello ^d   Cossarizza, Andrea ^d   Vidoni, Sara ^a   Valentino, Maria Lucia ^a   Rugolo, Michela ^a   Carelli, Valerio ^a  

^a UNIVERSITY OF BOLOGNA   (Italy)

^b NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE   (United States)

^c UNIVERSITY HOSPITAL TÜBINGEN   (Germany)

^d UNIVERSITY OF MODENA AND REGGIO EMILIA   (Italy)

Author keywords

AIF; DOA; Mitochondrial fusion; OPA1; Oxidative phosphorylation

Indexed keywords

GALACTOSE; GUANOSINE TRIPHOSPHATASE; PROTON TRANSPORTING ADENOSINE TRIPHOSPHATE SYNTHASE;

AEROBIC METABOLISM; APOPTOSIS; ARTICLE; AUTOSOMAL DOMINANT OPTIC ATROPHY; CONTROLLED STUDY; GENE MUTATION; GENE SEQUENCE; HUMAN; MITOCHONDRIAL RESPIRATION; OXIDATIVE PHOSPHORYLATION; PRIORITY JOURNAL; PROTEIN EXPRESSION; SKIN FIBROBLAST;

ADENOSINE TRIPHOSPHATE; APOPTOSIS; CELLS, CULTURED; DNA MUTATIONAL ANALYSIS; DNA, MITOCHONDRIAL; ELECTRON TRANSPORT; FIBROBLASTS; GENE DELETION; GTP PHOSPHOHYDROLASES; HUMANS; MITOCHONDRIA; OPTIC ATROPHY, AUTOSOMAL DOMINANT; OXIDANTS; OXIDATIVE PHOSPHORYLATION; SKIN;

EID: 38849190029     PISSN: 00068950     EISSN: 14602156     Source Type: Journal    
DOI: 10.1093/brain/awm335     Document Type: Article

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