Article
Mutations in six nephrosis genes delineate a pathogenic pathway amenable to treatment.
Nature communications - 17 May 2018
Ashraf Shazia, Kudo Hiroki, Rao Jia, Kikuchi Atsuo, Widmeier Eugen, Lawson Jennifer A, Tan Weizhen, Hermle Tobias, Warejko Jillian K, Shril Shirlee, Airik Merlin, Jobst-Schwan Tilman, Lovric Svjetlana, Braun Daniela A, Gee Heon Yung, Schapiro David, Majmundar Amar J, Sadowski Carolin E, Pabst Werner L, Daga Ankana, van der Ven Amelie T, Schmidt Johanna M, Low Boon Chuan, Gupta Anjali Bansal, Tripathi Brajendra K, Wong Jenny, Campbell Kirk, Metcalfe Kay, Schanze Denny, Niihori Tetsuya, Kaito Hiroshi, Nozu Kandai, Tsukaguchi Hiroyasu, Tanaka Ryojiro, Hamahira Kiyoshi, Kobayashi Yasuko, Takizawa Takumi, Funayama Ryo, Nakayama Keiko, Aoki Yoko, Kumagai Naonori, Iijima Kazumoto, Fehrenbach Henry, Kari Jameela A, El Desoky Sherif, Jalalah Sawsan, Bogdanovic Radovan, Stajić Nataša, Zappel Hildegard, Rakhmetova Assel, Wassmer Sharon-Rose, Jungraithmayr Therese, Strehlau Juergen, Kumar Aravind Selvin, Bagga Arvind, Soliman Neveen A, Mane Shrikant M, Kaufman Lewis, Lowy Douglas R, Jairajpuri Mohamad A, Lifton Richard P, Pei York, Zenker Martin, Kure Shigeo, Hildebrandt Friedhelm
Abstract excerpt
No efficient treatment exists for nephrotic syndrome (NS), a frequent cause of chronic kidney disease. Here we show mutations in six different genes (MAGI2, TNS2, DLC1, CDK20, ITSN1, ITSN2) as causing NS in 17 families with partially treatment-sensitive NS (pTSNS). These proteins interact and we delineate their roles in Rho-like small GTPase (RLSG) activity, and demonstrate deficiency for mutants of pTSNS...
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