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

A stop-codon mutation in the human mtDNA cytochrome c oxidase I gene disrupts the functional structure of complex IV.

American journal of human genetics - 1 Sept 1999

Bruno C, Martinuzzi A, Tang Y, Andreu A L, Pallotti F, Bonilla E, Shanske S, Fu J, Sue C M, Angelini C, DiMauro S, Manfredi G

Abstract excerpt

We have identified a novel stop-codon mutation in the mtDNA of a young woman with a multisystem mitochondrial disorder. Histochemical analysis of a muscle-biopsy sample showed virtually absent cytochrome c oxidase (COX) stain, and biochemical studies confirmed an isolated reduction of COX activity. Sequence analysis of the mitochondrial-encoded COX-subunit genes identified a heteroplasmic G-->A transition at...

Read the complete abstract on PubMed

Topics

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

Share to Blood Platelets
Share to Codon, Terminator

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

Share to Cytochrome-c Oxidase Deficiency

Share to Electron Transport Complex IV

Share to Hybrid Cells

Share to Mitochondria, Muscle

Share to Mitochondrial Myopathies

Share to Protein Biosynthesis

Source

Open in PubMed Open full text

Identifiers

PMID: 10441567
DOI: 10.1086/302546
PMCID: PMC1377967

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

A stop-codon mutation in the human mtDNA cytochrome c oxidase I gene disrupts the functional structure of complex IV.PMID 10441567Read ↗

In vivo regulation of oxidative phosphorylation in cells harboring a stop-codon mutation in mitochondrial DNA-encoded cytochrome c oxidase subunit I.Semantic proximity Read ↗

Depletion of mitochondrial DNA in leucocytes harbouring the 3243A→G mtDNA mutationSemantic proximity Read ↗

Production of transmitochondrial cybrids containing naturally occurring pathogenic mtDNA variants.Semantic proximity Read ↗

Mitochondrial encephalomyopathy and complex III deficiency associated with a stop-codon mutation in the cytochrome b gene.Semantic proximity Read ↗

Mutations in mtDNA-encoded cytochrome c oxidase subunit genes causing isolated myopathy or severe encephalomyopathy.Semantic proximity Read ↗

MtDNA mutations associated with sideroblastic anaemia cause a defect of mitochondrial cytochrome c oxidase.Semantic proximity Read ↗

A microdeletion in cytochrome c oxidase (COX) subunit III associated with COX deficiency and recurrent myoglobinuria.Semantic proximity Read ↗

A novel mitochondrial tRNAGlu (MTTE) gene mutation causing chronic progressive external ophthalmoplegia at low levels of heteroplasmy in muscle.Semantic proximity Read ↗

A novel mutation in the mitochondrial tRNA(Val) gene associated with a complex neurological presentation.Semantic proximity Read ↗

Congenital encephalomyopathy and adult-onset myopathy and diabetes mellitus: different phenotypic associations of a new heteroplasmic mtDNA tRNA glutamic acid mutation.Semantic proximity Read ↗

Mutation in the mitochondrial tRNA(Val) causes mitochondrial encephalopathy, lactic acidosis and stroke-like episodes.Semantic proximity Read ↗

Impact of the Mitochondrial Genetic Background in Complex III DeficiencySemantic proximity Read ↗

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