Loss of the chloride channel CIC-7 leads to lysosomal storage disease and neurodegeneration
Loss of the chloride channel CIC-7 leads to lysosomal storage disease and neurodegeneration
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Author / Creator
Kasper, D , Planells-Cases, R , Fuhrmann, J C , Scheel, O , Zeitz, O , Ruether, K , Schmitt, A , Poeet, M , Steinfeld, R , Schweizer, M , Kornak, U and Jentsch, T J
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English
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CIC-7 is a chloride channel of late endosomes and lysosomes. In osteoclasts, it may cooperate with H super(+)-ATPases in acidifying the resorption lacuna. In mice and man, loss of CIC-7 or the H super(+)-ATPase a3 subunit causes osteopetrosis, a disease characterized by defective bone resorption. We show that CIC-7 knockout mice additionally displa...
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Full title
Loss of the chloride channel CIC-7 leads to lysosomal storage disease and neurodegeneration
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TN_cdi_proquest_miscellaneous_17574483
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_17574483
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ISSN
0261-4189
DOI
10.1038/sj.emboj.7600576
