Caixia Lv

Clarissa Lam

Courtney Ng

David Zenisek

Helen Y. Fung

Lei Yang

Mahmud Arif Pavel

Nathalia G. Holtzman

Parul Kashyap

Paulsen

Reynolds

Simon Geir Møller

Thomas Campbell

Victoria Valentino

Yong Yu

Significance
          Mutations in transient receptor potential polycystin 2 (TRPP2) and polycystin-1 account for autosomal dominant polycystic kidney disease (ADPKD). TRPP2 is a cation channel and plays a crucial role in coupling extracellular stimuli to cellular responses in cells. The activation mechanism of TRPP2 is unknown, which significantly limits its study. Here, we report a gain-of-function (GOF) mutation that causes constitutive activity of TRPP2. This mutant was applied to investigation of the TRPP2 channel properties, the functional effects of ADPKD pathogenic TRPP2 mutations, and the in vivo function of the GOF TRPP2 in zebrafish embryos. From our results, we conclude that the GOF TRPP2 is a powerful tool for TRPP2 study, and has potential therapeutic applications in ADPKD treatment.</jats:p

Crossref

Proceedings of the National Academy of Sciences

Function and regulation of TRPP2 ion channel revealed by a gain-of-function mutant

Function and regulation of TRPP2 ion channel revealed by a gain-of-function mutant

Abstract

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