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Article

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

Annals of neurology - 1 Aug 1998

Cock H R, Tabrizi S J, Cooper J M, Schapira A H

Abstract excerpt

The role of mitochondrial DNA (mtDNA) mutations in the pathogenesis of Leber's hereditary optic neuropathy (LHON) has yet to be characterized. Several clinical features of the disease imply that nuclear genes might also be involved in its expression. We have confirmed the presence of a severe NADH:coenzyme Q1 reductase (complex I) defect in association with the A3460G mtDNA LHON mutation in cultured fibroblasts...

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PMID: 9708540
DOI: 10.1002/ana.410440208

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

The influence of nuclear background on the biochemical expression of 3460 Leber's hereditary optic neuropathy.PMID 9708540Read ↗

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

Leber's hereditary optic neuropathy: heteroplasmy is likely to be significant in the expression of LHON in families with the 3460 ND1 mutation.Semantic proximity Read ↗

Respiratory function in cybrid cell lines carrying European mtDNA haplogroups: implications for Leber's hereditary optic neuropathy.Semantic proximity Read ↗

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

MtDNA mutations associated with Leber's hereditary optic neuropathy: studies on cytoplasmic hybrid (cybrid) cells.Semantic proximity Read ↗

The role of mtDNA background in disease expression: a new primary LHON mutation associated with Western Eurasian haplogroup J.Semantic proximity Read ↗

Platelet mitochondrial function in Leber's hereditary optic neuropathy.Semantic proximity Read ↗

Respiration and growth defects in transmitochondrial cell lines carrying the 11778 mutation associated with Leber's hereditary optic neuropathy.Semantic proximity Read ↗

Use of transmitochondrial cybrids to assign a complex I defect to the mitochondrial DNA-encoded NADH dehydrogenase subunit 6 gene mutation at nucleotide pair 14459 that causes Leber hereditary optic neuropathy and dystonia.Semantic proximity Read ↗

Electron transfer properties of NADH:ubiquinone reductase in the ND1/3460 and the ND4/11778 mutations of the Leber hereditary optic neuroretinopathy (LHON).Semantic proximity Read ↗

Mutations in subunit 6 of the F1F0-ATP synthase cause two entirely different diseases.Semantic proximity Read ↗

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