The clinical heterogeneity of coenzyme Q(10) deficiency results from genotypic differences in the Coq9 gene

Primary coenzyme Q(10) (CoQ(10)) 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) a...

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Bibliografiska uppgifter
I publikationen:EMBO Mol Med
Huvudupphovsmän: 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
Materialtyp: Artigo
Språk:Inglês
Publicerad: BlackWell Publishing Ltd 2015
Ämnen:
Research Articles
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC4492823/
https://ncbi.nlm.nih.gov/pubmed/25802402
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.15252/emmm.201404632
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