Article
Functional characterization of a novel missense CLCN5 mutation causing alterations in proximal tubular endocytic machinery in Dent's disease.
Nephron. Physiology - 1 Jan 2007
Tanuma Atsuhito, Sato Hiroyoshi, Takeda Tetsuro, Hosojima Michihiro, Obayashi Hiroaki, Hama Hitomi, Iino Noriaki, Hosaka Kiyoko, Kaseda Ryohei, Imai Naofumi, Ueno Mitsuhiro, Yamazaki Maya, Sakimura Kenji, Gejyo Fumitake, Saito Akihiko
Abstract excerpt
BACKGROUND/AIMS: Mutations of the endosomal chloride/proton exchanger gene, CLCN5, cause Dent's disease, an X-linked recessive proximal tubular disorder. The renal endocytic system was found to be affected in clcn5 knockout mice. However, the impaired endocytic machinery of Dent's disease patients has not been thoroughly investigated. METHODS: The CLCN5 gene was sequenced in a Japanese patient with Dent's disease...
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