A nonsense mutation in the NDUFS4 gene encoding the 18 kDA (AQDQ) subunit of complex I abolishes assembly and activity of the complex in a patient with Leigh-like syndrome

Human Molecular Genetics

Volumn 10, Issue 5, 2001, Pages 529-535

  Petruzzella, Vittoria ^a   Vergari, Rosaria ^a   Puzziferri, Irene ^a   Boffoli, Domenico ^a   Lamantea, Eleonora ^b   Zeviani, Massimo ^b   Papa, Sergio ^a  

^a UNIVERSITY OF BARI   (Italy)

^b DEPARTMENT OF NEUROSURGERY   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ADENINE; AMINO ACID; CYCLIC AMP; CYCLIC AMP DEPENDENT PROTEIN KINASE; GUANINE; NUCLEOTIDE; OXIDOREDUCTASE; PEPTIDE; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE); ROTENONE; TRYPTOPHAN; UBIQUINONE;

ARTICLE; CASE REPORT; CELL NUCLEUS; CODON; CONTROLLED STUDY; ELECTROPHORESIS; ENZYME ACTIVATION; ENZYME ACTIVITY; ENZYME PHOSPHORYLATION; ENZYME SUBUNIT; FEMALE; FIBROBLAST CULTURE; GENE EXPRESSION; GENE SEQUENCE; HOMOZYGOSITY; HUMAN; HUMAN CELL; INFANT; LEIGH DISEASE; MITOCHONDRIAL MEMBRANE; MITOCHONDRION; NONSENSE MUTATION; PRIORITY JOURNAL; PROTEIN ASSEMBLY; PROTEIN TARGETING; RNA TRANSLATION; SEQUENCE ANALYSIS; STIMULATION; STOP CODON;

EID: 0035283150     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/10.5.529     Document Type: Article

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