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Metabolomics,Unknown,Transcriptomics,Genomics,Proteomics

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Transcription profiling of wild type and Clcn7-/- mouse hippocampus at p14

ABSTRACT: Comparison of expression levels between wild type and Clcn7-/- mouse hippocampus at p14. 3 wild type and 3 mutant mice were studied.

ORGANISM(S): Mus musculus

SUBMITTER: Robert Steinfeld

PROVIDER: E-MEXP-242 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress

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

Kasper Dagmar D Planells-Cases Rosa R Fuhrmann Jens C JC Scheel Olaf O Zeitz Oliver O Ruether Klaus K Schmitt Anja A Poët Mallorie M Steinfeld Robert R Schweizer Michaela M Kornak Uwe U Jentsch Thomas J TJ

The EMBO journal 20050210 5

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 lysosomal pH in cultured neurons. Rescuing their bone phenotype by transgenic expressio ...[more]

PMID: 15706348

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