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Article

Mutation of C20orf7 disrupts complex I assembly and causes lethal neonatal mitochondrial disease.

American journal of human genetics - 1 Oct 2008

Sugiana Canny, Pagliarini David J, McKenzie Matthew, Kirby Denise M, Salemi Renato, Abu-Amero Khaled K, Dahl Hans-Henrik M, Hutchison Wendy M, Vascotto Katherine A, Smith Stacey M, Newbold Robert F, Christodoulou John, Calvo Sarah, Mootha Vamsi K, Ryan Michael T, Thorburn David R

Abstract excerpt

Complex I (NADH:ubiquinone oxidoreductase) is the first and largest multimeric complex of the mitochondrial respiratory chain. Human complex I comprises seven subunits encoded by mitochondrial DNA and 38 nuclear-encoded subunits that are assembled together in a process that is only partially unde...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 18940309
DOI: 10.1016/j.ajhg.2008.09.009
PMCID: PMC2561934

Genes

NDUFAF1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-18940309-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

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Mutation of C20orf7 disrupts complex I assembly and causes lethal neonatal mitochondrial disease.PMID 18940309Read ↗

A homozygous variant in NDUFA8 is associated with developmental delay, microcephaly, and epilepsy due to mitochondrial complex I deficiency.Semantic proximity Read ↗

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Systematic analysis of NDUFAF6 in complex I assembly and mitochondrial diseaseSemantic proximity Read ↗

Systematic analysis of NDUFAF6 in complex I assembly and mitochondrial disease.Semantic proximity Read ↗

A novel mutation of the NDUFS7 gene leads to activation of a cryptic exon and impaired assembly of mitochondrial complex I in a patient with Leigh syndrome.Semantic proximity Read ↗

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Mutations in the accessory subunit NDUFB10 result in isolated complex I deficiency and illustrate the critical role of intermembrane space import for complex I holoenzyme assembly.Semantic proximity Read ↗

A recurrent de novo ATP5F1A substitution associated with neonatal complex V deficiency.Semantic proximity Read ↗

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