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Biochemical consequences in yeast of the human mitochondrial DNA 8993T>C mutation in the ATPase6 gene found in NARP/MILS patients.

Biochimica et biophysica acta - 1 May 2009

Kucharczyk Roza, Rak Malgorzata, di Rago Jean-Paul

Abstract excerpt

We have created and analyzed the properties of a yeast model of the human mitochondrial DNA T8993C mutation that has been associated with maternally-inherited Leigh syndrome and/or with neurogenic muscle weakness, ataxia and retinitis pigmentosa. This mutation changes a highly conserved leucine to proline in the Atp6p subunit of the ATP synthase, at position 156 in the human protein, position 183 in yeast. In...

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Identifiers

PMID: 19269308
DOI: 10.1016/j.bbamcr.2009.02.011

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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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