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dc.contributor.authorÖzaltın, Fatih
dc.contributor.authorLi, Binghua
dc.contributor.authorRauhauser, Alysha
dc.contributor.authorAn, Sung-Wan
dc.contributor.authorSöylemezoğlu, Oğuz
dc.contributor.authorGönül, İpek Işık
dc.contributor.authorTaşkıran, Ekim Z.
dc.contributor.authorİbsirlioglu, Tülin
dc.contributor.authorKorkmaz, Emine
dc.contributor.authorBilginer, Yelda
dc.contributor.authorDuzova, Ali
dc.contributor.authorÖzen, Seza
dc.contributor.authorTopaloğlu, Rezan
dc.contributor.authorBeşbaş, Nesrin
dc.contributor.authorAshraf, Shazia
dc.contributor.authorDu, Yong
dc.contributor.authorLiang, Chaoying
dc.contributor.authorChen, Phylip
dc.contributor.authorLu, Dongmei
dc.contributor.authorVadnagara, Komal
dc.contributor.authorArbuckle, Susan
dc.contributor.authorLewis, Deborah
dc.contributor.authorWakeland, Benjamin
dc.contributor.authorQuigg, Richard J.
dc.contributor.authorRansom, Richard F.
dc.contributor.authorWakeland, Edward K.
dc.contributor.authorTopham, Matthew K.
dc.contributor.authorBazan, Nicolas G.
dc.contributor.authorMohan, Chandra
dc.contributor.authorHildebrandt, Friedhelm
dc.contributor.authorBakkaloglu, Aysin
dc.contributor.authorHuang, Chou-Long
dc.contributor.authorAttanasio, Massimo
dc.date.accessioned2019-12-10T10:35:51Z
dc.date.available2019-12-10T10:35:51Z
dc.date.issued2013
dc.identifier.issn1046-6673
dc.identifier.urihttps://doi.org/10.1681/ASN.2012090903
dc.identifier.urihttp://hdl.handle.net/11655/13905
dc.description.abstractRenal microangiopathies and membranoproliferative GN (MPGN) can manifest similar clinical presentations and histology, suggesting the possibility of a common underlying mechanism in some cases. Here, we performed homozygosity mapping and whole exome sequencing in a Turkish consanguineous family and identified DGKE gene variants as the cause of a membranoproliferative-like glomerular microangiopathy. Furthermore, we identified two additional DGKE variants in a cohort of 142 unrelated patients diagnosed with membranoproliferative GN. This gene encodes the diacylglycerol kinase DGK epsilon, which is an intracellular lipid kinase that phosphorylates diacylglycerol to phosphatidic acid. Immunofluorescence confocal microscopy demonstrated that mouse and rat Dgk epsilon colocalizes with the podocyte marker WT1 but not with the endothelial marker CD31. Patch-clamp experiments in human embryonic kidney (HEK293) cells showed that DGK epsilon variants affect the intracellular concentration of diacylglycerol. Taken together, these results not only identify a genetic cause of a glomerular microangiopathy but also suggest that the phosphatidylinositol cycle, which requires DGKE, is critical to the normal function of podocytes. J Am Soc Nephrol 24: 377-384, 2013. doi: 10.1681/ASN.2012090903
dc.language.isoen
dc.publisherAmer Soc Nephrology
dc.relation.isversionof10.1681/ASN.2012090903
dc.rightsinfo:eu-repo/semantics/openAccess
dc.subjectUrology & Nephrology
dc.titleDgke Variants Cause A Glomerular Microangiopathy That Mimics Membranoproliferative Gn
dc.typeinfo:eu-repo/semantics/article
dc.typeinfo:eu-repo/semantics/publishedVersion
dc.relation.journalJournal Of The American Society Of Nephrology
dc.contributor.departmentÇocuk Sağlığı ve Hastalıkları
dc.identifier.volume24
dc.identifier.issue3
dc.identifier.startpage377
dc.identifier.endpage384
dc.description.indexWoS
dc.description.indexScopus


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