Article
A pure chloride channel mutant of CLC-5 causes Dent's disease via insufficient V-ATPase activation.
Pflugers Archiv : European journal of physiology - 1 Jul 2016
Satoh Nobuhiko, Yamada Hideomi, Yamazaki Osamu, Suzuki Masashi, Nakamura Motonobu, Suzuki Atsushi, Ashida Akira, Yamamoto Daisuke, Kaku Yoshitsugu, Sekine Takashi, Seki George, Horita Shoko
Abstract excerpt
Dent's disease is characterized by defective endocytosis in renal proximal tubules (PTs) and caused by mutations in the 2Cl(-)/H(+) exchanger, CLC-5. However, the pathological role of endosomal acidification in endocytosis has recently come into question. To clarify the mechanism of pathogenesis for Dent's disease, we examined the effects of a novel gating glutamate mutation, E211Q, on CLC-5 functions and...
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