ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ(10) biosynthesis disruption

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...

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Bibliografiska uppgifter
Huvudupphovsmän: 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
Materialtyp: Artigo
Språk:Inglês
Publicerad: American Society for Clinical Investigation 2013
Ämnen:
Research Article
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC3859425/
https://ncbi.nlm.nih.gov/pubmed/24270420
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI69000
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