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

doi:10.1006/bbrc.1995.1740

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Article

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

Biochemical and biophysical research communications - 25 May 1995

Vergani L, Martinuzzi A, Carelli V, Cortelli P, Montagna P, Schievano G, Carrozzo R, Angelini C, Lugaresi E

Abstract excerpt

Leber's hereditary optic neuropathy (LHON) has been associated with "primary" and "secondary" mtDNA missense point mutations, and a synergistic role has been proposed for secondary mutations. No previous study has investigated the effects of LHON primary or primary plus secondary mutations on the...

Topics

Adult
Biopsy
Cell Division
Cell Line
Cells, Cultured
Cytoplasm
DNA, Mitochondrial
Electron Transport Complex I
Electron Transport Complex IV
Female
Fibroblasts
Genetic Carrier Screening

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Humans

Hybrid Cells

Male

Mutation

NADH Dehydrogenase

NADH, NADPH Oxidoreductases

Source

Open in PubMed

Identifiers

PMID: 7763260
DOI: 10.1006/bbrc.1995.1740

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-7763260-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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MtDNA mutations associated with Leber's hereditary optic neuropathy: studies on cytoplasmic hybrid (cybrid) cells.PMID 7763260Read ↗

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