Article
Loss of the chloride channel ClC-7 leads to lysosomal storage disease and neurodegeneration.
The EMBO journal - 9 Mar 2005
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
Abstract excerpt
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 ClC-7 knockout mice additionally display neurodegeneration and severe lysosomal storage disease despite unchanged...
Topics
- Animals
- Cells, Cultured
- Chloride Channels
- Gene Expression
- Hippocampus
- Humans
- Hydrogen-Ion Concentration
- Lysosomal Storage Diseases, Nervous System
- Lysosomes
- Mice
- Mice, Knockout
- Mice, Mutant Strains
- Mice, Transgenic