Associated Papers
Cellular Models for Primary CoQ Deficiency Pathogenesis Study.
Santos-Ocaña C et al.
International Journal of Molecular Sciences, 2021
A Family Segregating Lethal Primary Coenzyme Q10 Deficiency Due to Two Novel COQ6 Variants.
Wang N et al.
Frontiers in Genetics, 2021
A no-nonsense approach to hereditary kidney disease.
Tokhmafshan F et al.
Pediatric Nephrology (berlin, Germany), 2020
Estimating the occurrence of primary ubiquinone deficiency by analysis of large-scale sequencing data.
Hughes BG et al.
Scientific Reports, 2017
Coenzyme Q Biosynthesis: Evidence for a Substrate Access Channel in the FAD-Dependent Monooxygenase Coq6.
Ismail A et al.
Plos Computational Biology, 2016
Biochemical diagnosis of coenzyme q10 deficiency.
Yubero D et al.
Molecular Syndromology, 2014
Effect of vanillic acid on COQ6 mutants identified in patients with coenzyme Q10 deficiency.
Doimo M et al.
Biochimica Et Biophysica Acta, 2014
COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness.
Heeringa SF et al.
The Journal of Clinical Investigation, 2011
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