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Article

Dysfunctions of cellular oxidative metabolism in patients with mutations in the NDUFS1 and NDUFS4 genes of complex I.

The Journal of biological chemistry - 14 Apr 2006

Iuso Arcangela, Scacco Salvatore, Piccoli Claudia, Bellomo Francesco, Petruzzella Vittoria, Trentadue Raffaella, Minuto Michele, Ripoli Maria, Capitanio Nazzareno, Zeviani Massimo, Papa Sergio

Abstract excerpt

The pathogenic mechanism of a G44A nonsense mutation in the NDUFS4 gene and a C1564A mutation in the NDUFS1 gene of respiratory chain complex I was investigated in fibroblasts from human patients. As previously observed the NDUFS4 mutation prevented complete assembly of the complex and caused full suppression of the activity. The mutation (Q522K replacement) in NDUFS1 gene, coding for the 75-kDa Fe-S subunit of...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Electron Transport Complex I

Share to Electrophoresis, Gel, Two-Dimensional

Share to Glutathione

Share to Membrane Potentials

Share to NADH Dehydrogenase

Share to NADH, NADPH Oxidoreductases

Source

Identifiers

PMID: 16478720
DOI: 10.1074/jbc.M513387200

Genes

NDUFS1
NDUFS4

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Dysfunctions of cellular oxidative metabolism in patients with mutations in the NDUFS1 and NDUFS4 genes of complex I.PMID 16478720Read ↗

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