Article
A pathogenic C terminus-truncated polycystin-2 mutant enhances receptor-activated Ca2+ entry via association with TRPC3 and TRPC7.
The Journal of biological chemistry - 4 Dec 2009
Miyagi Kyoko, Kiyonaka Shigeki, Yamada Kazunori, Miki Takafumi, Mori Emiko, Kato Kenta, Numata Tomohiro, Sawaguchi Yuichi, Numaga Takuro, Kimura Toru, Kanai Yoshikatsu, Kawano Mitsuhiro, Wakamori Minoru, Nomura Hideki, Koni Ichiro, Yamagishi Masakazu, Mori Yasuo
Abstract excerpt
Mutations in PKD2 gene result in autosomal dominant polycystic kidney disease (ADPKD). PKD2 encodes polycystin-2 (TRPP2), which is a homologue of transient receptor potential (TRP) cation channel proteins. Here we identify a novel PKD2 mutation that generates a C-terminal tail-truncated TRPP2 mutant 697fsX with a frameshift resulting in an aberrant 17-amino acid addition after glutamic acid residue 697 from a...
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