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Article

Effect of vanillic acid on COQ6 mutants identified in patients with coenzyme Q10 deficiency.

Biochimica et biophysica acta - 1 Jan 2014

Doimo Mara, Trevisson Eva, Airik Rannar, Bergdoll Marc, Santos-Ocaña Carlos, Hildebrandt Friedhelm, Navas Placido, Pierrel Fabien, Salviati Leonardo

Abstract excerpt

Human COQ6 encodes a monooxygenase which is responsible for the C5-hydroxylation of the quinone ring of coenzyme Q (CoQ). Mutations in COQ6 cause primary CoQ deficiency, a condition responsive to oral CoQ10 supplementation. Treatment is however still problematic given the poor bioavailability of CoQ10. We employed S. cerevisiae lacking the orthologous gene to characterize the two different human COQ6 isoforms and...

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Source

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Identifiers

PMID: 24140869
DOI: 10.1016/j.bbadis.2013.10.007
PMCID: PMC3898990

Genes

COQ6

Provenance

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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