Coenzyme Q10 deficiency

[1]. Andrew J Duncan, et al. A nonsense mutation in COQ9 causes autosomal-recessive neonatal-onset primary coenzyme Q10 deficiency: a potentially treatable form of mitochondrial disease. Am J Hum Genet. 2009 May;84(5):558-66. [Content Brief]

[2]. Catarina Quinzii, et al. A mutation in para-hydroxybenzoate-polyprenyl transferase (COQ2) causes primary coenzyme Q10 deficiency. Am J Hum Genet. 2006 Feb;78(2):345-9. [Content Brief]

[3]. Christoph Freyer, et al. Rescue of primary ubiquinone deficiency due to a novel COQ7 defect using 2,4-dihydroxybensoic acid. J Med Genet. 2015 Nov;52(11):779-83. [Content Brief]

[4]. Gloria Brea-Calvo, et al. COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency. Am J Hum Genet. 2015 Feb 5;96(2):309-17. [Content Brief]

[5]. Julie Mollet, et al. CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures. Am J Hum Genet. 2008 Mar;82(3):623-30. [Content Brief]

[6]. Julie Mollet, et al. Prenyldiphosphate synthase, subunit 1 (PDSS1) and OH-benzoate polyprenyltransferase (COQ2) mutations in ubiquinone deficiency and oxidative phosphorylation disorders. J Clin Invest. 2007 Mar;117(3):765-72. [Content Brief]

[7]. Luis Carlos López, et al. Leigh syndrome with nephropathy and CoQ10 deficiency due to decaprenyl diphosphate synthase subunit 2 (PDSS2) mutations. Am J Hum Genet. 2006 Dec;79(6):1125-9. [Content Brief]

[8]. May Christine V Malicdan, et al. A novel inborn error of the coenzyme Q10 biosynthesis pathway: cerebellar ataxia and static encephalomyopathy due to COQ5 C-methyltransferase deficiency. Hum Mutat. 2018 Jan;39(1):69-79. [Content Brief]

[9]. Meredith Spindler, et al. Coenzyme Q10 effects in neurodegenerative disease. Neuropsychiatr Dis Treat. 2009;5:597-610. [Content Brief]

[10]. Saskia F Heeringa, et al. COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness. J Clin Invest. 2011 May;121(5):2013-24. [Content Brief]