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

Functional consequences of the 3460-bp mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy.

Journal of the neurological sciences - 1 May 1999

Cock H R, Cooper J M, Schapira A H

Abstract excerpt

Complex I is the largest of the mitochondrial respiratory chain proteins, and contains subunits encoded by both mitochondrial and nuclear genomes. Leber's hereditary optic neuropathy has been clearly linked to mutations of mitochondrial DNA complex I genes, and variable complex I functional defects have been reported. We have confirmed an approximate 60% defect in mitochondrial NADH CoQ1 reductase activity in...

Read the complete abstract on PubMed

Topics

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

Share to Electron Transport
Share to Electron Transport Complex I

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

Share to Mitochondria, Muscle

Share to NADH, NADPH Oxidoreductases

Share to Optic Atrophies, Hereditary

Share to Rotenone

Share to Uncoupling Agents

Source

Identifiers

PMID: 10426140
DOI: 10.1016/s0022-510x(99)00088-x

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

Functional consequences of the 3460-bp mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy.PMID 10426140Read ↗

Functional analysis of lymphoblast and cybrid mitochondria containing the 3460, 11778, or 14484 Leber's hereditary optic neuropathy mitochondrial DNA mutation.Semantic proximity Read ↗

Novel mtDNA mutations and oxidative phosphorylation dysfunction in Russian LHON families.Semantic proximity Read ↗

Leber's hereditary optic neuropathy: biochemical effect of 11778/ND4 and 3460/ND1 mutations and correlation with the mitochondrial genotype.Semantic proximity Read ↗

The influence of nuclear background on the biochemical expression of 3460 Leber's hereditary optic neuropathy.Semantic proximity Read ↗

Assocation Between Leber's Hereditary Optic Neuropathy and MT-ND1 3460G>A Mutation-Induced Alterations in Mitochondrial Function, Apoptosis, and Mitophagy.Semantic proximity Read ↗

Leber's hereditary optic neuropathy-associated ND6 14484T > C mutation caused pleiotropic effects on the complex I, RNA homeostasis, apoptosis and mitophagy.Semantic proximity Read ↗

Previously Unclassified Mutation of mtDNA m.3472T>C: Evidence of Pathogenicity in Leber's Hereditary Optic Neuropathy.Semantic proximity Read ↗

Leber's hereditary optic neuropathy is associated with the T3866C mutation in mitochondrial ND1 gene in three Han Chinese Families.Semantic proximity Read ↗

m.3635G>A mutation as a cause of Leber hereditary optic neuropathy.Semantic proximity Read ↗

Leber hereditary optic neuropathy: identification of the same mitochondrial ND1 mutation in six pedigrees.Semantic proximity Read ↗

Impaired complex I repair causes recessive Leber's hereditary optic neuropathy.Semantic proximity Read ↗

Mitochondrial genetic control of assembly and function of complex I in mammalian cells.Semantic proximity Read ↗

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