Discover Community Create You

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

Decreased affinity for oxygen of cytochrome-c oxidase in Leigh syndrome caused by SURF1 mutations.

American journal of physiology. Cell physiology - 1 Nov 2004

Pecina Petr, Gnaiger Erich, Zeman Jirí, Pronicka Ewa, Houstek Josef

Abstract excerpt

Mutations in the gene SURF1 prevent synthesis of cytochrome-c oxidase (COX)-specific assembly protein and result in a fatal neurological disorder, Leigh syndrome. Because this severe COX deficiency presents with barely detectable changes of cellular respiratory rates under normoxic conditions, we analyzed the respiratory response to low oxygen in cultured fibroblasts harboring SURF1 mutations with high-resolution...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Cytochrome-c Oxidase Deficiency
Share to Electron Transport Complex IV

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Fibroblasts

Share to Leigh Disease

Share to Mitochondrial Proteins

Share to Oxygen

Share to Oxygen Consumption

Share to Proteins

Source

Identifiers

PMID: 15269007
DOI: 10.1152/ajpcell.00286.2004

Genes

SURF1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Decreased affinity for oxygen of cytochrome-c oxidase in Leigh syndrome caused by SURF1 mutations.PMID 15269007Read ↗

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

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

The first patient diagnosed with cytochrome c oxidase deficient Leigh syndrome: progress report.Semantic proximity Read ↗

Novel p.P298L SURF1 mutation in thiamine deficient Leigh syndrome patients compromises cytochrome c oxidase activity.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 ↗

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

Abnormal calcium homeostasis in fibroblasts from patients with Leigh disease.Semantic proximity Read ↗

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

Increased longevity and refractoriness to Ca(2+)-dependent neurodegeneration in Surf1 knockout mice.Semantic proximity Read ↗

SURF1 mutations in Chinese patients with Leigh syndrome: Novel mutations, mutation spectrum, and the functional consequences.Semantic proximity Read ↗

Human cytochrome oxidase deficiency.Semantic proximity Read ↗

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

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