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Article

Differences in assembly or stability of complex I and other mitochondrial OXPHOS complexes in inherited complex I deficiency.

Human molecular genetics - 15 Mar 2004

Ugalde Cristina, Janssen Rolf J R J, van den Heuvel Lambert P, Smeitink Jan A M, Nijtmans Leo G J

Abstract excerpt

NADH-ubiquinone oxidoreductase (complex I) deficiency is amongst the most encountered defects of the mitochondrial oxidative phosphorylation (OXPHOS) system and is associated with a wide variety of clinical signs and symptoms. Mutations in complex I nuclear structural genes are the most common cause of isolated complex I enzyme deficiencies. The cell biological consequences of such mutations are poorly...

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Source

Identifiers

PMID: 14749350
DOI: 10.1093/hmg/ddh071

Genes

NDUFS2
NDUFS4

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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