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

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

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.

J Clin Invest ; 123(12): 5179-89, 2013 Dec.

Article in En | MEDLINE | ID: mdl-24270420

Subject(s)

Nephrotic Syndrome/genetics; Protein Kinases/physiology; Ubiquinone/analogs & derivatives; Adolescent; Adrenal Cortex Hormones/pharmacology; Adrenal Cortex Hormones/therapeutic use; Amino Acid Sequence; Animals; Cells, Cultured; Child; Consanguinity; Conserved Sequence; DNA Mutational Analysis; Disease Models, Animal; Drosophila Proteins/antagonists & inhibitors; Drosophila Proteins/genetics; Drug Resistance; Exome/genetics; Fibroblasts/metabolism; Gene Knockdown Techniques; Humans; Mitochondria/physiology; Molecular Sequence Data; Mutation; Nephrotic Syndrome/drug therapy; Nephrotic Syndrome/metabolism; Nephrotic Syndrome/pathology; Podocytes/metabolism; Podocytes/ultrastructure; Protein Kinases/deficiency; Protein Kinases/genetics; Rats; Sequence Alignment; Sequence Homology, Amino Acid; Ubiquinone/antagonists & inhibitors; Ubiquinone/biosynthesis; Ubiquinone/metabolism; Ubiquinone/therapeutic use; Young Adult; Zebrafish/embryology; Zebrafish/genetics; Zebrafish Proteins/antagonists & inhibitors; Zebrafish Proteins/genetics

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Protein Kinases / Ubiquinone / Nephrotic Syndrome Language: En Journal: J Clin Invest Year: 2013 Document type: Article

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