ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption
ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption
About this item
Full title
Author / Creator
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 and Hildebrandt, Friedhelm
Publisher
United States: American Society for Clinical Investigation
Journal title
Language
English
Formats
Publication information
Publisher
United States: American Society for Clinical Investigation
Subjects
More information
Scope and Contents
Contents
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 4 (ADCK4) gene in 15 individuals with SRNS from 8...
Alternative Titles
Full title
ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption
Authors, Artists and Contributors
Author / Creator
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
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3859425
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3859425
Other Identifiers
ISSN
0021-9738
E-ISSN
1558-8238
DOI
10.1172/JCI69000
