Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome.

Nature genetics - 1 Dec 1998

Zhu Z, Yao J, Johns T, Fu K, De Bie I, Macmillan C, Cuthbert A P, Newbold R F, Wang J, Chevrette M, Brown G K, Brown R M, Shoubridge E A

Abstract excerpt

Leigh Syndrome (LS) is a severe neurological disorder characterized by bilaterally symmetrical necrotic lesions in subcortical brain regions that is commonly associated with systemic cytochrome c oxidase (COX) deficiency. COX deficiency is an autosomal recessive trait and most patients belong to...

Topics

Amino Acid Sequence
Cell Line
Chromosome Mapping
Chromosomes, Human, Pair 9
DNA, Complementary
Electron Transport Complex IV
Humans
In Situ Hybridization, Fluorescence
Leigh Disease
Membrane Proteins
Mitochondrial Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Molecular Sequence Data

Mutation

Proteins

Reverse Transcriptase Polymerase Chain Reaction

Sequence Homology, Amino Acid

Source

Identifiers

PMID: 9843204
DOI: 10.1038/3804

Genes

SURF1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-9843204-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome.PMID 9843204Read ↗

Loss-of-function mutations of SURF-1 are specifically associated with Leigh syndrome with cytochrome c oxidase deficiency.Semantic proximity Read ↗

Mutations in the SURF1 gene associated with Leigh syndrome and cytochrome C oxidase deficiency.Semantic proximity Read ↗

Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency.Semantic proximity Read ↗

Constitutive knockout of Surf1 is associated with high embryonic lethality, mitochondrial disease and cytochrome c oxidase deficiency in mice.Semantic proximity Read ↗

New splicing-site mutations in the SURF1 gene in Leigh syndrome patients.Semantic proximity Read ↗

SURF1 Deficiency: Expanding on Disease Phenotype and Assessing Disease Burden by Describing Clinical and Biochemical Phenotype.Semantic proximity Read ↗

Loss of the smallest subunit of cytochrome c oxidase, COX8A, causes Leigh-like syndrome and epilepsy.Semantic proximity Read ↗

SURF1-associated Leigh syndrome: a case series and novel mutations.Semantic proximity Read ↗

Leigh syndrome in Drosophila melanogaster: morphological and biochemical characterization of Surf1 post-transcriptional silencing.Semantic proximity Read ↗

Adaptation of respiratory chain biogenesis to cytochrome c oxidase deficiency caused by SURF1 gene mutations.Semantic proximity Read ↗

SURF1 gene mutations in three cases with Leigh syndrome and cytochrome c oxidase deficiency.Semantic proximity Read ↗

Human cytochrome oxidase deficiency.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.