Associated Papers
Primary Coenzyme Q10 Deficiency: An Update.
Mantle D et al.
Antioxidants (basel, Switzerland), 2023
Predicting and Understanding the Pathology of Single Nucleotide Variants in Human COQ Genes.
Wang S et al.
Antioxidants (basel, Switzerland), 2022
Effects of CoQ10 Replacement Therapy on the Audiological Characteristics of Pediatric Patients with COQ6 Variants.
Nam DW et al.
Biomed Research International, 2022
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
COQ6 mutation in patients with nephrotic syndrome, sensorineural deafness, and optic atrophy.
Justine Perrin R et al.
Jimd Reports, 2020
Primary coenzyme Q10 Deficiency-6 (COQ10D6): Two siblings with variable expressivity of the renal phenotype.
Yuruk Yildirim Z et al.
European Journal of Medical Genetics, 2020
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
CoenzymeQ10 therapy in two sisters with CoQ6 mutations with long-term follow-up.
Koyun M et al.
Pediatric Nephrology (berlin, Germany), 2019
Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.
Sheppard S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
CoQ10-related sustained remission of proteinuria in a child with COQ6 glomerulopathy-a case report.
Stańczyk M et al.
Pediatric Nephrology (berlin, Germany), 2018
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
A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome.
Sadowski CE et al.
Journal of the American Society of Nephrology : Jasn, 2015
MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.
Fukasawa Y et al.
Molecular & Cellular Proteomics : Mcp, 2015
Biochemical diagnosis of coenzyme q10 deficiency.
Yubero D et al.
Molecular Syndromology, 2014
The molecular genetics of coenzyme Q biosynthesis in health and disease.
Laredj LN et al.
Biochimie, 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