Mutations in the NDUFS4 gene of mitochondrial complex I alter stability of the splice variants (Articolo in rivista)

Type

• Prodotto della ricerca (Classe)
• Articolo in rivista (Classe)

Label

• Mutations in the NDUFS4 gene of mitochondrial complex I alter stability of the splice variants (Articolo in rivista) (literal)

Anno

• 2005-01-01T00:00:00+01:00 (literal)

Alternative label

• Vittoria Petruzzella, Damiano Panelli, Alessandra Torraco, Alessandro Stella, Sergio Papa. (2005)
  Mutations in the NDUFS4 gene of mitochondrial complex I alter stability of the splice variants
  in FEBS letters (Print)
  (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori

• Vittoria Petruzzella, Damiano Panelli, Alessandra Torraco, Alessandro Stella, Sergio Papa. (literal)

Pagina inizio

• 3770 (literal)

Pagina fine

• 3376 (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroVolume

• 579 (literal)

Rivista

• FEBS letters (Rivista)

Note

• ISI Web of Science (WOS) (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#affiliazioni

• Department of Medical Biochemistry and Medical Biology, University of Bari, Piazza G. Cesare, Bari 70124, Italy Institute of Biomembranes and Bioenergetics, Italian Research Council, Bari 70124, Italy Medical Genetics Section, Dipartimento di Biomedicina dell'eta` Evolutiva Policlinico, University of Bari, Bari 70124, Italy (literal)

Titolo

• Mutations in the NDUFS4 gene of mitochondrial complex I alter stability of the splice variants (literal)

Abstract

• The effect on the stability of alternative transcripts of different mutations of the NDUFS4 gene in patients with Leigh syndrome with complex I deficiency is presented. Normally, two NDUFS4 splice variants are degraded by nonsense mediated mRNA decay (NMD) while a third form does not trigger NMD degradation. In a patient with a premature termination codon in exon 1, all the three splice variants are up-regulated. The present is the first case of a nonsense mutation leading to the abrogation of NMD, which can represent an additional event to be considered in the evaluation of clinically relevant muta- tions. (literal)

Prodotto di

• Sistemi boenergetici di membrana: meccanismi funzionali e fisiopatologia. (SV.P14.005.001) (Modulo)
• Istituto di biomembrane e bioenergetica (IBBE) (Istituto)

Autore CNR

• SERGIO PAPA (Unità di personale esterno)

Insieme di parole chiave

• Keywords of "Mutations in the NDUFS4 gene of mitochondrial complex I alter stability of the splice variants" (Insieme di parole chiave)

Incoming links:

Prodotto

• Istituto di biomembrane e bioenergetica (IBBE) (Istituto)
• Sistemi boenergetici di membrana: meccanismi funzionali e fisiopatologia. (SV.P14.005.001) (Modulo)

Autore CNR di

• SERGIO PAPA (Unità di personale esterno)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#rivistaDi

• FEBS letters (Rivista)

Insieme di parole chiave di

• Keywords of "Mutations in the NDUFS4 gene of mitochondrial complex I alter stability of the splice variants" (Insieme di parole chiave)