Show simple item record

dc.contributor.authorHeeringa, Saskia F.
dc.contributor.authorChernin, Gil
dc.contributor.authorChaki, Moumita
dc.contributor.authorZhou, Weibin
dc.contributor.authorSloan, Alexis J.
dc.contributor.authorJi, Ziming
dc.contributor.authorXie, Letian X.
dc.contributor.authorSalviati, Leonardo
dc.contributor.authorHurd, Toby W.
dc.contributor.authorVega-Warner, Virginia
dc.contributor.authorKillen, Paul D.
dc.contributor.authorRaphael, Yehoash
dc.contributor.authorAshraf, Shazia
dc.contributor.authorOvunc, Bugsu
dc.contributor.authorSchoeb, Dominik S.
dc.contributor.authorMcLaughlin, Heather M.
dc.contributor.authorAirik, Rannar
dc.contributor.authorVlangos, Christopher N.
dc.contributor.authorGbadegesin, Rasheed
dc.contributor.authorHinkes, Bernward
dc.contributor.authorSaisawat, Pawaree
dc.contributor.authorTrevisson, Eva
dc.contributor.authorDoimo, Mara
dc.contributor.authorCasarin, Alberto
dc.contributor.authorPertegato, Vanessa
dc.contributor.authorGiorgi, Gianpietro
dc.contributor.authorProkisch, Holger
dc.contributor.authorRoetig, Agnes
dc.contributor.authorNuernberg, Gudrun
dc.contributor.authorBecker, Christian
dc.contributor.authorWang, Su
dc.contributor.authorOzaltin, Fatih
dc.contributor.authorTopaloglu, Rezan
dc.contributor.authorBakkaloglu, Aysin
dc.contributor.authorBakkaloglu, Sevcan A.
dc.contributor.authorMueller, Dominik
dc.contributor.authorBeissert, Antje
dc.contributor.authorMir, Sevgi
dc.contributor.authorBerdeli, Afig
dc.contributor.authorOzen, Seza
dc.contributor.authorZenker, Martin
dc.contributor.authorMatejas, Verena
dc.contributor.authorSantos-Ocana, Carlos
dc.contributor.authorNavas, Placido
dc.contributor.authorKusakabe, Takehiro
dc.contributor.authorKispert, Andreas
dc.contributor.authorAkman, Sema
dc.contributor.authorSoliman, Neveen A.
dc.contributor.authorKrick, Stefanie
dc.contributor.authorMundel, Peter
dc.contributor.authorReiser, Jochen
dc.contributor.authorNuernberg, Peter
dc.contributor.authorClarke, Catherine F.
dc.contributor.authorWiggins, Roger C.
dc.contributor.authorFaul, Christian
dc.contributor.authorHildebrandt, Friedhelm
dc.date.accessioned2019-12-10T10:35:32Z
dc.date.available2019-12-10T10:35:32Z
dc.date.issued2011
dc.identifier.issn0021-9738
dc.identifier.urihttps://doi.org/10.1172/JCI45693
dc.identifier.urihttp://hdl.handle.net/11655/13882
dc.description.abstractSteroid-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 Q(10) 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(10) treatment. In rats, COQ6 was located within cell processes and the Golgi apparatus of renal glomerular podocytes and in stria vascularis cells of the inner ear, consistent with an oto-renal disease phenotype. These data suggest that coenzyme Q(10)-related forms of SRNS and hearing loss can be molecularly identified and potentially treated.
dc.language.isoen
dc.publisherAmer Soc Clinical Investigation Inc
dc.relation.isversionof10.1172/JCI45693
dc.rightsinfo:eu-repo/semantics/openAccess
dc.subjectResearch & Experimental Medicine
dc.titleCoq6 Mutations In Human Patients Produce Nephrotic Syndrome With Sensorineural Deafness
dc.typeinfo:eu-repo/semantics/article
dc.typeinfo:eu-repo/semantics/publishedVersion
dc.relation.journalJournal Of Clinical Investigation
dc.contributor.departmentÇocuk Sağlığı ve Hastalıkları
dc.identifier.volume121
dc.identifier.issue5
dc.identifier.startpage2013
dc.identifier.endpage2024
dc.description.indexWoS
dc.description.indexScopus


Files in this item

This item appears in the following Collection(s)

Show simple item record