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Titolo:
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
Autore:
Petruzzella, V; Vergari, R; Puzziferri, I; Boffoli, D; Lamantea, E; Zeviani, M; Papa, S;
Indirizzi:
Univ Bari, Dept Med Biochem & Biol, I-70124 Bari, Italy Univ Bari Bari Italy I-70124 ept Med Biochem & Biol, I-70124 Bari, Italy Natl Neurol Inst C Besta, Div Biochem & Genet, I-20133 Milan, Italy Natl Neurol Inst C Besta Milan Italy I-20133 Genet, I-20133 Milan, Italy
Titolo Testata:
HUMAN MOLECULAR GENETICS
fascicolo: 5, volume: 10, anno: 2001,
pagine: 529 - 535
SICI:
0964-6906(20010301)10:5<529:ANMITN>2.0.ZU;2-M
Fonte:
ISI
Lingua:
ENG
Soggetto:
BOVINE HEART-MITOCHONDRIA; DEPENDENT PROTEIN-KINASE; ADENINE-NUCLEOTIDE TRANSLOCATOR; NADH-UBIQUINONE OXIDOREDUCTASE; NUCLEAR RESPIRATORY FACTOR-1; ELECTRON-TRANSPORT CHAIN; NEUROSPORA-CRASSA; DEFICIENCY; PHOSPHORYLATION; DNA;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
40
Recensione:
Indirizzi per estratti:
Indirizzo: Papa, S Univ Bari, Dept Med Biochem & Biol, Piazza G Cesare, I-70124 Bari,Italy Univ Bari Piazza G Cesare Bari Italy I-70124 I-70124 Bari, Italy
Citazione:
V. Petruzzella et al., "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", HUM MOL GEN, 10(5), 2001, pp. 529-535

Abstract

Sequence analysis of mitochondrial and nuclear candidate genes of complex I in children with deficiency of this complex and exhibiting Leigh-like syndrome has revealed, in one of them, a novel mutation in the NDUFS4 gene encoding the 18 kDa subunit. Phosphorylation of this subunit by cAMP-dependentprotein kinase has previously been found to activate the complex. The present mutation consists of a homozygous G-->A transition at nucleotide position +44 of the coding sequence of the gene, resulting in the change of a tryptophan codon to a stop codon. Such mutation causes premature termination of the protein after only 14 amino acids of the putative mitochondrial targeting peptide. Fibroblast cultures from the patient exhibited severe reduction of the rotenone-sensitive NADH-->UQ oxidoreductase activity of complex I, which was insensitive to cAMP stimulation. Two-dimensional electrophoresis showed the absence of detectable normally assembled complex I in the inner mitochondrial membrane. These findings show that the expression of the NDUFS4 gene is essential for the assembly of a functional complex I.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 27/01/20 alle ore 01:21:18