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A pure chloride channel mutant of CLC-5 causes Dent's disease via insufficient V-ATPase activation.

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第一作者： Nobuhiko,Satoh

第一单位： Department of Internal Medicine, Faculty of Medicine, The University of Tokyo Hospital, 7-3-1 Hongo, Bunkyo-ku, Tokyo, 113-0033, Japan.

作者： Nobuhiko,Satoh ^[1] ; Hideomi,Yamada ^[1] ; Osamu,Yamazaki ^[2] ; Masashi,Suzuki ^[1] ; Motonobu,Nakamura ^[1] ; Atsushi,Suzuki ^[1] ; Akira,Ashida ^[3] ; Daisuke,Yamamoto ^[4] ; Yoshitsugu,Kaku ^[5] ; Takashi,Sekine ^[6] ; George,Seki ^[7] ; Shoko,Horita ^[8]

作者单位： Department of Internal Medicine, Faculty of Medicine, The University of Tokyo Hospital, 7-3-1 Hongo, Bunkyo-ku, Tokyo, 113-0033, Japan. ^[1] Apheresis and Dialysis Center, General Medicine, School of Medicine, Keio University, Tokyo, Japan. ^[2] Department of Pediatrics, Osaka Medical College, Takatsuki, Osaka, Japan. ^[3] Biomedical Computation Center, Osaka Medical College, Takatsuki, Osaka, Japan. ^[4] Department of Nephrology, Fukuoka Children's Hospital, Fukuoka, Japan. ^[5] Department of Pediatrics, Ohashi Medical Center, Toho University, Meguro-ku, Tokyo, Japan. ^[6] Yaizu City Hospital, Yaizu, Japan. ^[7] Department of Internal Medicine, Faculty of Medicine, The University of Tokyo Hospital, 7-3-1 Hongo, Bunkyo-ku, Tokyo, 113-0033, Japan. shorita-tky@umin.ac.jp. ^[8]

关键词 CLC-5 Dent’s disease Endocytosis Endosomal acidification Gating glutamate V-ATPase