The regulation of PTC containing transcripts of the human NDUFS4 gene of complex I of respiratory chain and the impact of pathological mutations (Articolo in rivista)

Type

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

Label

• The regulation of PTC containing transcripts of the human NDUFS4 gene of complex I of respiratory chain and the impact of pathological mutations (Articolo in rivista) (literal)

Anno

• 2008-01-01T00:00:00+01:00 (literal)

Alternative label

• Damiano Panelli, Vittoria Petruzzella, Rita Vitale, Domenico De Rasmo, Arnold Munnich, Agnès Rötig, Sergio Papa (2008)
  The regulation of PTC containing transcripts of the human NDUFS4 gene of complex I of respiratory chain and the impact of pathological mutations
  in Biochimie (Print)
  (literal)

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

• Damiano Panelli, Vittoria Petruzzella, Rita Vitale, Domenico De Rasmo, Arnold Munnich, Agnès Rötig, Sergio Papa (literal)

Rivista

• Biochimie (Rivista)

Note

• ISI Web of Science (WOS) (literal)

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

• Department of Medical Biochemistry, Biology and Physics, University of Bari, Piazza G. Cesare, Bari 70124,Italy, Institute of Biomembranes and Bioenergetics, Italian Research Council, Bari, Piazza G. Cesare 70124, Italy Département de Génétique, Maternité and INSERM U393, Hôpital Necker-Enfants Malades, 149 Rue de Sèvres, 75015, Paris, France. (literal)

Titolo

• The regulation of PTC containing transcripts of the human NDUFS4 gene of complex I of respiratory chain and the impact of pathological mutations (literal)

Abstract

• The regulation of alternative transcripts of the NDUFS4 gene of complex I of the respiratory chain has been studied in human cells lines. One of the alternative transcripts (SV1) is subjected to the NMD degradation pathway which involves the hUPF1 and hUPF2 factors. Another transcript (SV3) appears to be controlled in the nuclear fraction and to be enhanced when hUPF1 is depleted, but unaffected by translation inhibitors or when hUPF2 expression is down-regulated. A pathological homozygous nonsense mutation in exon 1, found in a patient affected by mitochondrial disorder, inactivated in the patient’s fibroblasts NMD degradation of SV1 and enhanced the nuclear production of SV3. In another patient with a homozygous splice acceptor site mutation in intron 1, SV3, which was the only transcript of NDUFS4 gene to be produced, accumulated in fibroblasts (literal)

Prodotto di

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

Autore CNR

• Vittoria Petruzzella (Unità di personale esterno)
• SERGIO PAPA (Unità di personale esterno)

Incoming links:

Prodotto

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

Autore CNR di

• Vittoria Petruzzella (Unità di personale esterno)
• SERGIO PAPA (Unità di personale esterno)

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

• Biochimie (Rivista)