ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption

Ashraf, Shazia; Yung Gee, Heon; Woerner, Stéphanie; Xie, Letian; Vega-Warner, Virginia; Lovric, Svjetlana; Fang, Humphrey; Song, Xuewen; C. Cattran, Daniel; Ávila-Casado, Carmen; D. Paterson, Andrew; Nitschké, Patrick; Bôle‐Feysot, Christine; Cochat, Pierre; Esteve-Rudd, Julián; Haberberger, Birgit; J. Allen, Susan; Zhou, Weibin; Airik, Rannar; A. Otto, Edgar; Barua, Moumita; H. Al‐Hamed, Mohamed; A. Kari, Jameela; Evans, Jonathan; Bierżyńska, Agnieszka; A. Saleem, Moin; Böckenhauer, Detlef; Kleta, Robert; El Desoky, Sherif; Övünç Hacıhamdioğlu, Duygu; Gök, Faysal; Washburn, Joseph; C. Wiggins, Roger; Choi, Murim; P. Lifton, Richard; Levy, Shawn; Han, Zhe; Salviati, Leonardo; Prokisch, Holger; S. Williams, David; R. Pollak, Martin; F. Clarke, Catherine; Pei, York; Antignac, Corinne; Hildebrandt, Friedhelm

doi:10.1172/jci69000

Public

ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption

Published in Journal of Clinical Investigation • Nov 24, 2013

Authors:

Shazia Ashraf

Heon Yung Gee

Stéphanie Woerner

Abstract

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 ...

Subject

Gene knockdown

Podocyte

Biology

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