Associated Papers
Secondary findings in a large Pakistani cohort tested with whole genome sequencing.
Skrahin A et al.
Life Science Alliance, 2023
36635046 (PubMed )
Supplement: LSA-2022-01673_TableS1.xlsx › Sheet1
Cellular Models for Primary CoQ Deficiency Pathogenesis Study.
Santos-Ocaña C et al.
International Journal of Molecular Sciences, 2021
Identification of disease-causing variants by comprehensive genetic testing with exome sequencing in adults with suspicion of hereditary FSGS.
Braunisch MC et al.
European Journal of Human Genetics : Ejhg, 2021
Early-onset COQ8B (ADCK4) glomerulopathy in a child with isolated proteinuria: a case report and literature review.
Zhai SB et al.
Bmc Nephrology, 2020
A case report of adult-onset COQ8B nephropathy presenting focal segmental glomerulosclerosis with granular swollen podocytes.
Maeoka Y et al.
Bmc Nephrology, 2020
ADCK4 Deficiency Destabilizes the Coenzyme Q Complex, Which Is Rescued by 2,4-Dihydroxybenzoic Acid Treatment.
Widmeier E et al.
Journal of the American Society of Nephrology : Jasn, 2020
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
31802016 (PubMed )
Supplement: 41586_2019_1793_MOESM3_ESM.xlsx › S4b_-_Disease_Var
Mutations in COQ8B (ADCK4) found in patients with steroid-resistant nephrotic syndrome alter COQ8B function.
Vazquez Fonseca L et al.
Human Mutation, 2018
Estimating the occurrence of primary ubiquinone deficiency by analysis of large-scale sequencing data.
Hughes BG et al.
Scientific Reports, 2017
Coenzyme Q10 supplementation therapy for 2 children with proteinuria renal disease and ADCK4 mutation: Case reports and literature review.
Feng C et al.
Medicine, 2017
The molecular genetics of coenzyme Q biosynthesis in health and disease.
Laredj LN et al.
Biochimie, 2014
ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption.
Ashraf S et al.
The Journal of Clinical Investigation, 2013
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