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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Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: American Society for Clinical Investigation 2013
Assuntos:
Research Article
Acesso em linha: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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