Dysfunctions of cellular oxidative metabolism in patients with mutations in the NDUFS1 and NDUFS4 genes of complex I

Journal of Biological Chemistry

Volumn 281, Issue 15, 2006, Pages 10374-10380

  Iuso, Arcangela ^a   Scacco, Salvatore ^a   Piccoli, Claudia ^b   Bellomo, Francesco ^a   Petruzzella, Vittoria ^a   Trentadue, Raffaella ^a   Minuto, Michele ^a   Ripoli, Maria ^b   Capitanio, Nazzareno ^b   Zeviani, Massimo ^c   Papa, Sergio ^a,d  

^a UNIVERSITY OF BARI   (Italy)

^b UNIVERSITY OF FOGGIA   (Italy)

^c DEPARTMENT OF NEUROSURGERY   (Italy)

^d CNR   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

DISEASES; GENES; MEDICAL PROBLEMS; METABOLISM; MUTAGENESIS; OXIDATION;

CELLULAR OXIDATIVE METABOLISM; FIBROBLASTS; MUTATIONS; REACTIVE OXYGEN SPECIES (ROS);

CELLS;

ADENOSINE TRIPHOSPHATE; BUCLADESINE; CYTOCHROME C OXIDASE; GLUTATHIONE; GLUTATHIONE PEROXIDASE; HYDROGEN PEROXIDE; REACTIVE OXYGEN METABOLITE; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE); ROTENONE; ANTIOXIDANT; CYCLIC AMP; CYTOCHROME B5 REDUCTASE; NDUFS1 PROTEIN, HUMAN; NDUFS4 PROTEIN, HUMAN; OXIDOREDUCTASE; OXYGEN; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE;

AEROBIC METABOLISM; ARTICLE; CASE REPORT; CATALYSIS; CELL CULTURE; CELL METABOLISM; CELL MUTANT; CONTROLLED STUDY; ENZYME ACTIVITY; ENZYME INHIBITION; FIBROBLAST; GEL ELECTROPHORESIS; GENE; GENE EXPRESSION; GENE MUTATION; HUMAN; HUMAN CELL; IMMUNOBLOTTING; INFANT; MALE; MEMBRANE POTENTIAL; METABOLIC INHIBITION; MISSENSE MUTATION; MITOCHONDRION; NDUFS1 GENE; NDUFS4 GENE; NONSENSE MUTATION; PRIORITY JOURNAL; PROTEIN EXPRESSION; RESPIRATORY CHAIN; CELL LINE; CELL MEMBRANE POTENTIAL; CELL RESPIRATION; CHEMISTRY; CONFOCAL MICROSCOPY; ELECTRON TRANSPORT; GENETIC TRANSCRIPTION; GENETICS; HOMOZYGOTE; KINETICS; METABOLISM; MUTATION; PHYSIOLOGY; POLYACRYLAMIDE GEL ELECTROPHORESIS; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; STOP CODON; TWO DIMENSIONAL GEL ELECTROPHORESIS;

ADENOSINE TRIPHOSPHATE; ANTIOXIDANTS; CATALYSIS; CELL LINE; CELL RESPIRATION; CODON, NONSENSE; CYCLIC AMP; ELECTRON TRANSPORT; ELECTRON TRANSPORT COMPLEX I; ELECTROPHORESIS, GEL, TWO-DIMENSIONAL; ELECTROPHORESIS, POLYACRYLAMIDE GEL; FIBROBLASTS; GLUTATHIONE; HOMOZYGOTE; HUMANS; HYDROGEN PEROXIDE; KINETICS; MEMBRANE POTENTIALS; MICROSCOPY, CONFOCAL; MITOCHONDRIA; MUTATION; NADH DEHYDROGENASE; NADH, NADPH OXIDOREDUCTASES; OXYGEN; REACTIVE OXYGEN SPECIES; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; TRANSCRIPTION, GENETIC;

EID: 33744515907     PISSN: 00219258     EISSN: 1083351X     Source Type: Journal    
DOI: 10.1074/jbc.M513387200     Document Type: Article

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