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Article

Impaired ATP synthase assembly associated with a mutation in the human ATP synthase subunit 6 gene.

The Journal of biological chemistry - 2 Mar 2001

Nijtmans L G, Henderson N S, Attardi G, Holt I J

Abstract excerpt

Mutations in human mitochondrial DNA are a well recognized cause of disease. A mutation at nucleotide position 8993 of human mitochondrial DNA, located within the gene for ATP synthase subunit 6, is associated with the neurological muscle weakness, ataxia, and retinitis pigmentosa (NARP) syndrome. To enable analysis of this mutation in control nuclear backgrounds, two different cell lines were transformed with...

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Identifiers

PMID: 11076946
DOI: 10.1074/jbc.M008114200

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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.

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