{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Heeringa SF"],"funding":["Telethon","NIDDK NIH HHS","European Commission FP7","NIGMS NIH HHS"],"pagination":["2013-24"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC3083770"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["121(5)"],"pubmed_abstract":["Steroid-resistant nephrotic syndrome (SRNS) is a frequent cause of end-stage renal failure. Identification of single-gene causes of SRNS has generated some insights into its pathogenesis; however, additional genes and disease mechanisms remain obscure, and SRNS continues to be treatment refractory. Here we have identified 6 different mutations in coenzyme Q10 biosynthesis monooxygenase 6 (COQ6) in 13 individuals from 7 families by homozygosity mapping. Each mutation was linked to early-onset SRNS with sensorineural deafness. The deleterious effects of these human COQ6 mutations were validated by their lack of complementation in coq6-deficient yeast. Furthermore, knockdown of Coq6 in podocyte cell lines and coq6 in zebrafish embryos caused apoptosis that was partially reversed by coenzyme Q"],"journal":["The Journal of clinical investigation"],"pubmed_title":["COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness."],"pmcid":["PMC3083770"],"funding_grant_id":["R56 DK046073","DK076683","R01 DK076683","R01 DK046073","R01 DK091218","R01 GM045952","GGP09207","P30 DK081943","RC1 DK086542","R01 DK062472","DK086542","P30 DK081943","GM45952","DK46073","FP7_201590"],"pubmed_authors":["Soliman NA","Hildebrandt F","Heeringa SF","Mir S","Casarin A","Prokisch H","Clarke CF","Wang S","Xie LX","Killen PD","McLaughlin HM","Trevisson E","Zenker M","Schoeb DS","Giorgi G","Kusakabe T","Vega-Warner V","Raphael Y","Krick S","Sloan AJ","Saisawat P","Muller D","Akman S","Vlangos CN","Navas P","Ozaltin F","Wiggins RC","Chaki M","Chernin G","Bakkaloglu SA","Rotig A","Mundel P","Bakkaloglu A","Nurnberg P","Faul C","Nurnberg G","Matejas V","Pertegato V","Doimo M","Hinkes B","Berdeli A","Salviati L","Airik R","Ovunc B","Zhou W","Ashraf S","Reiser J","Kispert A","Hurd TW","Ji Z","Beissert A","Varpizen S","Santos-Ocana C","Gbadegesin R","Becker C","Topaloglu R"],"additional_accession":[]},"is_claimable":false,"name":"COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness.","description":"Steroid-resistant nephrotic syndrome (SRNS) is a frequent cause of end-stage renal failure. Identification of single-gene causes of SRNS has generated some insights into its pathogenesis; however, additional genes and disease mechanisms remain obscure, and SRNS continues to be treatment refractory. Here we have identified 6 different mutations in coenzyme Q10 biosynthesis monooxygenase 6 (COQ6) in 13 individuals from 7 families by homozygosity mapping. Each mutation was linked to early-onset SRNS with sensorineural deafness. The deleterious effects of these human COQ6 mutations were validated by their lack of complementation in coq6-deficient yeast. Furthermore, knockdown of Coq6 in podocyte cell lines and coq6 in zebrafish embryos caused apoptosis that was partially reversed by coenzyme Q","dates":{"release":"2011-01-01T00:00:00Z","publication":"2011 May","modification":"2025-04-04T21:57:31.974Z","creation":"2019-03-27T00:41:01Z"},"accession":"S-EPMC3083770","cross_references":{"pubmed":["21540551"],"doi":["10.1172/jci45693","10.1172/JCI45693"]}}