Associated Papers
Homozygous COQ9 mutation: a new cause of potentially treatable hereditary spastic paraplegia.
Fontaine F et al.
European Journal of Human Genetics : Ejhg, 2025
Two cases of neonatal hyperglycemia caused by a homozygous COQ9 stop-gain variant.
Donis R et al.
Journal of Diabetes Investigation, 2025
Primary Coenzyme Q10 Deficiency: An Update.
Mantle D et al.
Antioxidants (basel, Switzerland), 2023
Cellular Models for Primary CoQ Deficiency Pathogenesis Study.
Santos-Ocaña C et al.
International Journal of Molecular Sciences, 2021
Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.
Wang Z et al.
Genome Medicine, 2021
Mitochondrial Disease and the Kidney With a Special Focus on CoQ10 Deficiency.
Schijvens AM et al.
Kidney International Reports, 2020
Redefining infantile-onset multisystem phenotypes of coenzyme Q10-deficiency in the next-generation sequencing era.
Berardo A et al.
Journal of Translational Genetics and Genomics, 2020
A family segregating lethal neonatal coenzyme Q10 deficiency caused by mutations in COQ9.
Smith AC et al.
Journal of Inherited Metabolic Disease, 2018
Estimating the occurrence of primary ubiquinone deficiency by analysis of large-scale sequencing data.
Hughes BG et al.
Scientific Reports, 2017
Human COQ9 Rescues a coq9 Yeast Mutant by Enhancing Coenzyme Q Biosynthesis from 4-Hydroxybenzoic Acid and Stabilizing the CoQ-Synthome.
He CH et al.
Frontiers in Physiology, 2017
Fatal neonatal encephalopathy and lactic acidosis caused by a homozygous loss-of-function variant in COQ9.
Danhauser K et al.
European Journal of Human Genetics : Ejhg, 2016
The clinical heterogeneity of coenzyme Q10 deficiency results from genotypic differences in the Coq9 gene.
Luna-Sánchez M et al.
Embo Molecular Medicine, 2015
Biochemical diagnosis of coenzyme q10 deficiency.
Yubero D et al.
Molecular Syndromology, 2014
An overview of current mouse models recapitulating coenzyme q10 deficiency syndrome.
Licitra F et al.
Molecular Syndromology, 2014
The molecular genetics of coenzyme Q biosynthesis in health and disease.
Laredj LN et al.
Biochimie, 2014
Dysfunctional Coq9 protein causes predominant encephalomyopathy associated with CoQ deficiency.
García-Corzo L et al.
Human Molecular Genetics, 2013
Reactive oxygen species, oxidative stress, and cell death correlate with level of CoQ10 deficiency.
Quinzii CM et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2010
A nonsense mutation in COQ9 causes autosomal-recessive neonatal-onset primary coenzyme Q10 deficiency: a potentially treatable form of mitochondrial disease.
Duncan AJ et al.
American Journal of Human Genetics, 2009