Article
ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption.
The Journal of clinical investigation - 1 Dec 2013
Ashraf Shazia, Gee Heon Yung, Woerner Stephanie, Xie Letian X, Vega-Warner Virginia, Lovric Svjetlana, Fang Humphrey, Song Xuewen, Cattran Daniel C, Avila-Casado Carmen, Paterson Andrew D, Nitschké Patrick, Bole-Feysot Christine, Cochat Pierre, Esteve-Rudd Julian, Haberberger Birgit, Allen Susan J, Zhou Weibin, Airik Rannar, Otto Edgar A, Barua Moumita, Al-Hamed Mohamed H, Kari Jameela A, Evans Jonathan, Bierzynska Agnieszka, Saleem Moin A, Böckenhauer Detlef, Kleta Robert, El Desoky Sherif, Hacihamdioglu Duygu O, Gok Faysal, Washburn Joseph, Wiggins Roger C, Choi Murim, Lifton Richard P, Levy Shawn, Han Zhe, Salviati Leonardo, Prokisch Holger, Williams David S, Pollak Martin, Clarke Catherine F, Pei York, Antignac Corinne, Hildebrandt Friedhelm
Abstract excerpt
Identification of single-gene causes of steroid-resistant nephrotic syndrome (SRNS) has furthered the understanding of the pathogenesis of this disease. Here, using a combination of homozygosity mapping and whole human exome resequencing, we identified mutations in the aarF domain containing kinase 4 (ADCK4) gene in 15 individuals with SRNS from 8 unrelated families. ADCK4 was highly similar to ADCK3, which has...
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