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Loss of the chloride channel ClC-7 leads to lysosomal storage disease and neurodegeneration

ClC-7 is a chloride channel of late endosomes and lysosomes. In osteoclasts, it may cooperate with H(+)-ATPases in acidifying the resorption lacuna. In mice and man, loss of ClC-7 or the H(+)-ATPase a3 subunit causes osteopetrosis, a disease characterized by defective bone resorption. We show that C...

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書誌詳細
主要な著者: Kasper, Dagmar, Planells-Cases, Rosa, Fuhrmann, Jens C, Scheel, Olaf, Zeitz, Oliver, Ruether, Klaus, Schmitt, Anja, Poët, Mallorie, Steinfeld, Robert, Schweizer, Michaela, Kornak, Uwe, Jentsch, Thomas J
フォーマット: Artigo
言語:Inglês
出版事項: 2005
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC554126/
https://ncbi.nlm.nih.gov/pubmed/15706348
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/sj.emboj.7600576
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