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Article

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

FEBS letters - 28 Jul 1997

Majander A, Lamminen T, Juvonen V, Aula P, Nikoskelainen E, Savontaus M L, Wikström M

Abstract excerpt

A lowered efficiency of oxidative phosphorylation was recently found in a Leber hereditary optic neuropathy (LHON) proband carrying a mutation in the mtDNA gene for subunit 6 of the membrane-bound F0 segment of the F1F0-ATP synthase [9]. This phenotype was transferred to cytoplasmic hybrid cells together with the mutation, proving its functional significance. Increasing the respiratory rate in the mitochondria...

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Share to Adenosine Triphosphate
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Optic Atrophies, Hereditary

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Source

Identifiers

PMID: 9256250
DOI: 10.1016/s0014-5793(97)00757-6

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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.

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