Inefficient coupling between proton transport and ATP synthesis may be the pathogenic mechanism for NARP and Leigh syndrome resulting from the T8993G mutation in mtDNA

Biochemical Journal

Volumn 395, Issue 3, 2006, Pages 493-500

  Sgarbi, Gianluca ^a   Baracca, Alessandra ^a   Lenaz, Giorgio ^a   Valentino, Lucia M ^a   Carelli, Valerio ^a   Solaini, Giancarlo ^a  

^a UNIVERSITY OF BOLOGNA   (Italy)

Author keywords

ATPase 6 subunit; F1F0 ATPase; Membrane potential; Mitochondria; Mitochondrial DNA (mtDNA) point mutation; Proton transport

Indexed keywords

ADENOSINETRIPHOSPHATE; CATALYSIS; DISEASES; DNA; FLUORESCENCE; GENES; MUTAGENESIS; NEUROLOGY; PROTONS; SYNTHESIS (CHEMICAL);

ATPASE 6 SUBUNIT; F1F0 ATPASE; MEMBRANE POTENTIAL; MITOCHONDRIA; MITOCHONDRIAL DNA (MTDNA) POINT MUTATION; PROTON TRANSPORT;

ENZYMES;

ADENOSINE TRIPHOSPHATE; DIGITONIN; FLUORESCENT DYE; GUANINE; MITOCHONDRIAL DNA; OLIGOMYCIN; PROTON TRANSPORTING ADENOSINE TRIPHOSPHATE SYNTHASE; RHODAMINE 123; THYMINE;

ARTICLE; ATAXIA; CELL MEMBRANE PERMEABILITY; CELL MUTANT; CLINICAL ARTICLE; CONTROLLED STUDY; ENZYME ACTIVITY; GENE MUTATION; GENETIC LINKAGE; HETEROPLASMY; HUMAN; HUMAN CELL; LEIGH DISEASE; LYMPHOCYTE; MEMBRANE POTENTIAL; MITOCHONDRIAL MEMBRANE; MITOCHONDRION; NARP SYNDROME; NEUROPATHY; PATHOGENESIS; PATHOGENICITY; POINT MUTATION; PRIORITY JOURNAL; PROTON TRANSPORT; RETINITIS PIGMENTOSA;

ADENOSINE TRIPHOSPHATE; CELL MEMBRANE PERMEABILITY; CELLS, CULTURED; DIGITONIN; DNA, MITOCHONDRIAL; FEMALE; HUMANS; ION TRANSPORT; LEIGH DISEASE; MALE; MUTATION; PEDIGREE; PROTONS; RETINITIS PIGMENTOSA; SUBSTRATE SPECIFICITY; SYNDROME; THREONINE;

ATAXIA;

EID: 33645576104     PISSN: 02646021     EISSN: None     Source Type: Journal    
DOI: 10.1042/BJ20051748     Document Type: Article

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