ubiquinone 6

01/01/2022 - "Complete remission of proteinuria was more frequently observed in COQ6 disease. "
12/01/2018 - "CoQ10-related sustained remission of proteinuria in a child with COQ6 glomerulopathy-a case report."
03/01/2019 - "Abrogation of Coq6 in mouse podocytes caused FSGS and proteinuria (>46-fold increases in albuminuria). "
12/01/2018 - "Proteinuria caused by a COQ6 gene defect can be successfully treated with CoQ10."

07/01/2020 - "Mutations in the COQ2, COQ6, PDSS2, and ADCK4 genes are responsible for steroid-resistant nephrotic syndrome (SRNS), which is associated with extra-renal symptoms. "
02/02/2017 - "Conclusion: Renal disease caused by recessive COQ6 gene mutation was nephrotic syndrome. "
01/01/2022 - "Primary Coenzyme Q10 deficiency is a rare mitochondriopathy with a wide spectrum of organ involvement, including steroid-resistant nephrotic syndrome mainly associated with disease-causing variants in the genes COQ2, COQ6 or COQ8B. "
05/01/2011 - "COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness."
02/02/2017 - "[Coenzyme Q(10) treatment for one child with COQ6 gene mutation induced nephrotic syndrome and literature review]."

01/01/2022 - "None of the patients with COQ8B variants, but 50% of patients with COQ2 and COQ6 variants progressed to kidney failure by age five. "
07/01/2020 - "Our study reports the cases of two brothers of Turkish origin with renal failure and sensorineural deafness associated with COQ6 mutations responsible of CoQ10 deficiency. "
01/01/2022 - "Primary coenzyme Q10 deficiency-6 (COQ10D6) is an autosomal recessive disorder attributable to biallelic COQ6 variants; the cardinal phenotypes are steroid-resistant nephrotic syndrome (SRNS), which inevitably progresses to kidney failure, and sensorineural hearing loss (SNHL). "

07/01/2020 - "Previous studies have reported COQ6 mutations in 11 patients from five different families presenting with SRNS and sensorineural deafness. "
05/01/2011 - "COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness."
07/01/2020 - "COQ6 mutation in patients with nephrotic syndrome, sensorineural deafness, and optic atrophy."
07/01/2020 - "Our study reports the cases of two brothers of Turkish origin with renal failure and sensorineural deafness associated with COQ6 mutations responsible of CoQ10 deficiency. "
03/01/2019 - "We recently reported that individuals with mutations in COQ6, a coenzyme Q (also called CoQ10, CoQ, or ubiquinone) biosynthesis pathway enzyme, develop SRNS with sensorineural deafness, and demonstrated the beneficial effect of CoQ for maintenace of kidney function. "

01/01/2020 - "COQ6 mutations should be considered not only in patients with SRNS with sensorineural hearing loss but also in patients with isolated sensorineural hearing loss with a family history of NS. "
07/01/2017 - "In this report of 10 children with SR-FSGS and sensorineural hearing loss, we found 6 patients with biallelic COQ6 mutations. "
07/01/2017 - "Primary CoQ10 deficiency due to COQ6 mutations should be considered in children presenting with both SR-FSGS and sensorineural hearing loss. "
01/01/2022 - "The association of steroid-resistant nephrotic syndrome and sensorineural hearing loss was confirmed as the distinctive phenotype of COQ6 variants, with hearing impairment manifesting at average age three years. "
07/01/2017 - "COQ6 Mutations in Children With Steroid-Resistant Focal Segmental Glomerulosclerosis and Sensorineural Hearing Loss."