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...

पूर्ण विवरण

में बचाया:
ग्रंथसूची विवरण
मुख्य लेखकों: 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
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: American Society for Clinical Investigation 2013
विषय:
Research Article
ऑनलाइन पहुंच: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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