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Article

The clinical heterogeneity of coenzyme Q10 deficiency results from genotypic differences in the Coq9 gene.

EMBO molecular medicine - 1 May 2015

Luna-Sánchez Marta, Díaz-Casado Elena, Barca Emanuele, Tejada Miguel Ángel, Montilla-García Ángeles, Cobos Enrique Javier, Escames Germaine, Acuña-Castroviejo Dario, Quinzii Catarina M, López Luis Carlos

Abstract excerpt

Primary coenzyme Q10 (CoQ10) deficiency is due to mutations in genes involved in CoQ biosynthesis. The disease has been associated with five major phenotypes, but a genotype-phenotype correlation is unclear. Here, we compare two mouse models with a genetic modification in Coq9 gene (Coq9(Q95X) and Coq9(R239X)), and their responses to 2,4-dihydroxybenzoic acid (2,4-diHB). Coq9(R239X) mice manifest severe...

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Identifiers

PMID: 25802402
DOI: 10.15252/emmm.201404632
PMCID: PMC4492823

Genes

COQ9

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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