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Article

The first nuclear-encoded complex I mutation in a patient with Leigh syndrome.

American journal of human genetics - 1 Dec 1998

Loeffen J, Smeitink J, Triepels R, Smeets R, Schuelke M, Sengers R, Trijbels F, Hamel B, Mullaart R, van den Heuvel L

Abstract excerpt

Nicotinamide adenine dinucleotide (NADH):ubiquinone oxidoreductase (complex I) is the largest multiprotein enzyme complex of the respiratory chain. The nuclear-encoded NDUFS8 (TYKY) subunit of complex I is highly conserved among eukaryotes and prokaryotes and contains two 4Fe4S ferredoxin consensus patterns, which have long been thought to provide the binding site for the iron-sulfur cluster N-2. The NDUFS8 cDNA...

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Identifiers

PMID: 9837812
DOI: 10.1086/302154
PMCID: PMC1377631

Genes

NDUFS8

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.

Related research

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The first nuclear-encoded complex I mutation in a patient with Leigh syndrome.PMID 9837812Read ↗

Mitochondrial DNA or Genomic DNA Variant(s): Utility of Exhaustive Sequencing in Leigh Syndrome.Semantic proximity Read ↗

The p.M292T NDUFS2 mutation causes complex I-deficient Leigh syndrome in multiple families.Semantic proximity Read ↗

Mutant NDUFS3 subunit of mitochondrial complex I causes Leigh syndrome.Semantic proximity Read ↗

Leigh syndrome associated with mitochondrial complex I deficiency due to novel mutations In NDUFV1 and NDUFS2.Semantic proximity Read ↗

Leigh syndrome associated with mitochondrial complex I deficiency due to a novel mutation in the NDUFS1 gene.Semantic proximity Read ↗

Pathogenic Bi-allelic Mutations in NDUFAF8 Cause Leigh Syndrome with an Isolated Complex I Deficiency.Semantic proximity Read ↗

Compound heterozygous mutations in the flavoprotein gene of the respiratory chain complex II in a patient with Leigh syndrome.Semantic proximity Read ↗

Exome sequencing identifies complex I NDUFV2 mutations as a novel cause of Leigh syndrome.Semantic proximity Read ↗

Clinical and molecular findings in children with complex I deficiency.Semantic proximity Read ↗

The genotype/phenotype conundrum of inherited mitochondrial disorders: Insights from a survey of mtDNA mutations associated with Leigh syndrome in complex I.Semantic proximity Read ↗

Leigh syndrome associated with a mutation in the NDUFS7 (PSST) nuclear encoded subunit of complex I.Semantic proximity Read ↗

Identification of a novel m.3955G > A variant in MT-ND1 associated with Leigh syndrome.Semantic proximity Read ↗

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