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

Three novel SURF-1 mutations in Japanese patients with Leigh syndrome.

Pediatric neurology - 1 Mar 2002

Ogawa Yukiko, Naito Etsuo, Ito Michinori, Yokota Ichiro, Saijo Takahiko, Shinahara Kumi, Kuroda Yasuhiro

Abstract excerpt

Leigh syndrome, a severe neurodegenerative disorder, commonly is associated with cytochrome c oxidase deficiency. Recent studies in white patients indicate that SURF-1 gene mutations can cause Leigh syndrome associated with cytochrome c oxidase deficiency. When we measured cytochrome c oxidase activity in cultured lymphoblastoid cells from our Japanese patients with typical Leigh syndrome, three patients...

Read the complete abstract on PubMed

Topics

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

Share to Exons
Share to Homozygote
Share to Japan

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Leigh Disease

Share to Membrane Proteins

Share to Mitochondrial Proteins

Share to Polymorphism, Restriction Fragment Length

Share to Proteins

Source

Identifiers

PMID: 11955926
DOI: 10.1016/s0887-8994(01)00382-4

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

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Three novel SURF-1 mutations in Japanese patients with Leigh syndrome.PMID 11955926Read ↗

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

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

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

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

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

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

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

Mutations in SURF1 are important genetic causes of Leigh syndrome in Slovak patients.Semantic proximity Read ↗

Clinical and laboratory survey of 65 Chinese patients with Leigh syndrome.Semantic proximity Read ↗

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

Unusual clinical presentations in four cases of Leigh disease, cytochrome C oxidase deficiency, and SURF1 gene mutations.Semantic proximity Read ↗

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

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