Lysosomal storage disease upon disruption of the neuronal chloride transport protein ClC-6

Proceedings of the National Academy of Sciences of the United States of America

Volumn 103, Issue 37, 2006, Pages 13854-13859

  Poët, Mallorie ^a,e   Kornak, Uwe ^a,f   Schweizer, Michaela ^a   Zdebik, Anselm A ^a,g   Scheel, Olaf ^a   Hoelter, Sabine ^b   Wurst, Wolfgang ^b,c   Schmitt, Anja ^a   Fuhrmann, Jens C ^a,g   Planells Cases, Rosa ^a,h   Mole, Sara E ^d   Hübner, Christian A ^a   Jentsch, Thomas J ^a,g  

^a UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^b INSTITUTE OF EPIDEMIOLOGY   (Germany)

^c MAX PLANCK INSTITUTE OF PSYCHIATRY   (Germany)

^d UNIVERSITY COLLEGE LONDON   (United Kingdom)

^e CNRS   (France)

^f MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

^g MAX DELBRÜCK CENTER FOR MOLECULAR MEDICINE   (Germany)

^h CENTRO DE INVESTIGACIÓN PRÍNCIPE FELIPE   (Spain)

Author keywords

Acidification; Anion transport; Batten disease; Channelopathy; Kufs' disease

Indexed keywords

CARRIER PROTEIN; CHLORIDE CHANNEL; CHLORIDE TRANSPORT PROTEIN; CLC PROTEIN; UNCLASSIFIED DRUG;

AMINO ACID SUBSTITUTION; ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; BEHAVIOR DISORDER; CELL MEMBRANE CONDUCTANCE; CENTRAL NERVOUS SYSTEM; CHLORIDE TRANSPORT; CLCN6 GENE; CONTROLLED STUDY; ELECTRON MICROSCOPY; GENE; GENE DISRUPTION; INTRACELLULAR TRANSPORT; LYSOSOME STORAGE DISEASE; MOUSE; NERVE CELL; NOCICEPTION; NONHUMAN; PERIPHERAL NERVOUS SYSTEM; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN EXPRESSION; TISSUE DISTRIBUTION;

MAMMALIA;

EID: 33748779034     PISSN: 00278424     EISSN: None     Source Type: Journal    
DOI: 10.1073/pnas.0606137103     Document Type: Article

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