COQ2

Publications

Quinzii CM et al. The Role of Sulfide Oxidation Impairment in the Pathogenesis of Primary CoQ Deficiency. Front Physiol. 2017;8:525.  PIMD: 28790927.

Gigante M et al. Further phenotypic heterogeneity of CoQ10 deficiency associated with steroid resistant nephrotic syndrome and novel COQ2 and COQ6 variants. Clin Genet. 2017;92(2):224-226.  PMID: 28044327.

Desbats MA et al. The COQ2 genotype predicts the severity of coenzyme Q10 deficiency. Hum Mol Genet. 2016;25(19):4256-4265.  PMID: 27493029.

L√≥pez LC et al. Pathomechanisms in coenzyme q10-deficient human fibroblasts. Mol Syndromol. 2014;5(3-4):163-9.  PMID: 25126049.

Desbats MA et al. Primary coenzyme Q10 deficiency presenting as fatal neonatal multiorgan failure. Eur J Hum Genet. 2015;23(9):1254-8.  PMID: 25564041.

Desbats MA et al. Genetic bases and clinical manifestations of coenzyme Q10 (CoQ 10) deficiency. J Inherit Metab Dis. 2015;38(1):145-56.  PMID: 25091424.

Montini G et al. Early coenzyme Q10 supplementation in primary coenzyme Q10 deficiency. N Engl J Med. 2008;358(26):2849-50.  PMID:18579827.

Quinzii C et al. A mutation in para-hydroxybenzoate-polyprenyl transferase (COQ2) causes primary coenzyme Q10 deficiency. Am J Hum Genet. 2006;78(2):345-9.  PMID: 16400613.