Novel recessive mutations in COQ4 cause severe infantile cardiomyopathy and encephalopathy associated with CoQ10 deficiency.

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A mutation in para-hydroxybenzoate-polyprenyl transferase (COQ2) causes primary coenzyme Q10 deficiency. Am J Hum Genet (2005) 2.73

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Mitochondrial disorders as windows into an ancient organelle. Nature (2012) 2.51

COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness. J Clin Invest (2011) 2.21

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ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiency. Am J Hum Genet (2008) 2.04

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Prenyldiphosphate synthase, subunit 1 (PDSS1) and OH-benzoate polyprenyltransferase (COQ2) mutations in ubiquinone deficiency and oxidative phosphorylation disorders. J Clin Invest (2007) 1.78

Familial cerebellar ataxia with muscle coenzyme Q10 deficiency. Neurology (2001) 1.75

ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption. J Clin Invest (2013) 1.74

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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) 1.71

Coenzyme Q10 reverses pathological phenotype and reduces apoptosis in familial CoQ10 deficiency. Neurology (2001) 1.68

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Human coenzyme Q10 deficiency. Neurochem Res (2006) 1.34

Haploinsufficiency of COQ4 causes coenzyme Q10 deficiency. J Med Genet (2012) 1.16

Yeast COQ4 encodes a mitochondrial protein required for coenzyme Q synthesis. Arch Biochem Biophys (2001) 1.16

Dysfunctional Coq9 protein causes predominant encephalomyopathy associated with CoQ deficiency. Hum Mol Genet (2012) 1.06

Functional characterization of human COQ4, a gene required for Coenzyme Q10 biosynthesis. Biochem Biophys Res Commun (2008) 1.03

A novel mutation in COQ2 leading to fatal infantile multisystem disease. J Neurol Sci (2013) 1.00

COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency. Am J Hum Genet (2015) 0.97

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Early myoclonic epilepsy, hypertrophic cardiomyopathy and subsequently a nephrotic syndrome in a patient with CoQ10 deficiency caused by mutations in para-hydroxybenzoate-polyprenyl transferase (COQ2). Eur J Paediatr Neurol (2013) 0.93

Mutations in COQ4, an essential component of coenzyme Q biosynthesis, cause lethal neonatal mitochondrial encephalomyopathy. J Med Genet (2015) 0.84

Decreased ubiquinone availability and impaired mitochondrial cytochrome oxidase activity associated with statin treatment. Toxicol Mech Methods (2009) 0.83

Rescue of primary ubiquinone deficiency due to a novel COQ7 defect using 2,4-dihydroxybensoic acid. J Med Genet (2015) 0.83

Characterization of human SCO1 and COX17 genes in mitochondrial cytochrome-c-oxidase deficiency. Biochem Biophys Res Commun (2000) 0.82

The COQ2 genotype predicts the severity of coenzyme Q10 deficiency. Hum Mol Genet (2016) 0.78