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

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

Human molecular genetics - 15 Feb 2003

Agostino Alessandro, Invernizzi Federica, Tiveron Cecilia, Fagiolari Gigliola, Prelle Alessandro, Lamantea Eleonora, Giavazzi Alessio, Battaglia Giorgio, Tatangelo Laura, Tiranti Valeria, Zeviani Massimo

Abstract excerpt

We report here the creation of a constitutive knockout mouse for SURF1, a gene encoding one of the assembly proteins involved in the formation of cytochrome c oxidase (COX). Loss-of-function mutations of SURF1 cause Leigh syndrome associated with an isolated and generalized COX deficiency in humans. The murine phenotype is characterized by the following hallmarks: (1) high post-implantation embryonic lethality,...

Read the complete abstract on PubMed

Topics

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

Share to Blotting, Southern
Share to Cytochrome-c Oxidase Deficiency

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Electron Transport Complex IV

Share to Genetic Vectors

Share to Immunoblotting

Share to Mitochondrial Diseases

Share to Mitochondrial Proteins

Share to Tissue Distribution

Source

Identifiers

PMID: 12566387
DOI: 10.1093/hmg/ddg038

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

Constitutive knockout of Surf1 is associated with high embryonic lethality, mitochondrial disease and cytochrome c oxidase deficiency in mice.PMID 12566387Read ↗

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

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

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

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

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

Nuclear gene defects in mitochondrial disorders.Semantic proximity Read ↗

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

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

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

Early developmental pathology due to cytochrome c oxidase deficiency is revealed by a new zebrafish model.Semantic proximity Read ↗

SURF1 deficiency: a multi-centre natural history studySemantic proximity Read ↗

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

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