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

EMBO Journal

Volumn 24, Issue 5, 2005, Pages 1079-1091

  Kasper, Dagmar ^a,d   Planells Cases, Rosa ^a,d,e   Fuhrmann, Jens C ^a,d   Scheel, Olaf ^a   Zeitz, Oliver ^a   Ruether, Klaus ^a,b   Schmitt, Anja ^a   Poët, Mallorie ^a   Steinfeld, Robert ^c   Schweizer, Michaela ^a   Kornak, Uwe ^a,f   Jentsch, Thomas J ^a  

^a UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^b CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^c UNIVERSITY OF GÖTTINGEN   (Germany)

^d NORDIC BIOSCIENCE A S   (Denmark)

^e Centro Sup en Alta Tecn Cientifica   (Spain)

^f MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

Author keywords

Channelopathy; NCL TCIRG1; Transgenic rescue

Indexed keywords

CHLORIDE CHANNEL; LYSOSOME ENZYME; MITOCHONDRIAL ENZYME; PROTON TRANSPORTING ADENOSINE TRIPHOSPHATASE; PROTON TRANSPORTING ADENOSINE TRIPHOSPHATASE A3; PROTON TRANSPORTING ADENOSINE TRIPHOSPHATE SYNTHASE; UNCLASSIFIED DRUG;

ACIDIFICATION; ANIMAL CELL; ANIMAL TISSUE; ARTICLE; AUTOFLUORESCENCE; CELL PH; CENTRAL NERVOUS SYSTEM; CONTROLLED STUDY; DISEASE SEVERITY; ENDOSOME; ENZYME SUBUNIT; HISTOLOGY; KNOCKOUT MOUSE; LIFESPAN; LYSOSOME; LYSOSOME STORAGE DISEASE; MACROGLIA; MICROGLIA; MOUSE; NERVE DEGENERATION; NEURONAL CEROID LIPOFUSCINOSIS; NONHUMAN; OSTEOCLAST; OSTEOLYSIS; OSTEOPOROSIS; PHENOTYPE; PRIORITY JOURNAL; RETINA DEGENERATION; TRANSGENE;

EID: 20144387287     PISSN: 02614189     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.emboj.7600576     Document Type: Article

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