Article
Advillin acts upstream of phospholipase C ϵ1 in steroid-resistant nephrotic syndrome.
The Journal of clinical investigation - 1 Dec 2017
Rao Jia, Ashraf Shazia, Tan Weizhen, van der Ven Amelie T, Gee Heon Yung, Braun Daniela A, Fehér Krisztina, George Sudeep P, Esmaeilniakooshkghazi Amin, Choi Won-Il, Jobst-Schwan Tilman, Schneider Ronen, Schmidt Johanna Magdalena, Widmeier Eugen, Warejko Jillian K, Hermle Tobias, Schapiro David, Lovric Svjetlana, Shril Shirlee, Daga Ankana, Nayir Ahmet, Shenoy Mohan, Tse Yincent, Bald Martin, Helmchen Udo, Mir Sevgi, Berdeli Afig, Kari Jameela A, El Desoky Sherif, Soliman Neveen A, Bagga Arvind, Mane Shrikant, Jairajpuri Mohamad A, Lifton Richard P, Khurana Seema, Martins Jose C, Hildebrandt Friedhelm
Abstract excerpt
Steroid-resistant nephrotic syndrome (SRNS) is a frequent cause of chronic kidney disease. Here, we identified recessive mutations in the gene encoding the actin-binding protein advillin (AVIL) in 3 unrelated families with SRNS. While all AVIL mutations resulted in a marked loss of its actin-bundling ability, truncation of AVIL also disrupted colocalization with F-actin, thereby leading to impaired actin binding...
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