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Article

Mitochondrial complex I deficiency of nuclear origin I. Structural genes.

Molecular genetics and metabolism - 1 Feb 2012

Pagniez-Mammeri Hélène, Loublier Sandrine, Legrand Alain, Bénit Paule, Rustin Pierre, Slama Abdelhamid

Abstract excerpt

Complex I (or NADH-ubiquinone oxidoreductase), is by far the largest respiratory chain complex with 38 subunits nuclearly encoded and 7 subunits encoded by the mitochondrial genome. Its deficiency is the most frequently encountered in mitochondrial disorders. Here, we summarize recent data obtained on architecture of complex I, and review the pathogenic mutations identified to date in nuclear structural complex I...

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Source

Identifiers

PMID: 22142868
DOI: 10.1016/j.ymgme.2011.11.188

Genes

NDUFS1
NDUFS2
NDUFS4
NDUFV1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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