| http://purl.uniprot.org/citations/16950870 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/16950870 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/16950870 | http://www.w3.org/2000/01/rdf-schema#comment | "Mammalian CLC proteins function as Cl(-) channels or as electrogenic Cl(-)/H(+) exchangers and are present in the plasma membrane and intracellular vesicles. We now show that the ClC-6 protein is almost exclusively expressed in neurons of the central and peripheral nervous systems, with a particularly high expression in dorsal root ganglia. ClC-6 colocalized with markers for late endosomes in neuronal cell bodies. The disruption of ClC-6 in mice reduced their pain sensitivity and caused moderate behavioral abnormalities. Neuronal tissues showed autofluorescence at initial axon segments. At these sites, electron microscopy revealed electron-dense storage material that caused a pathological enlargement of proximal axons. These deposits were positive for several lysosomal proteins and other marker proteins typical for neuronal ceroid lipofuscinosis (NCL), a lysosomal storage disease. However, the lysosomal pH of Clcn6(-/-) neurons appeared normal. CLCN6 is a candidate gene for mild forms of human NCL. Analysis of 75 NCL patients identified ClC-6 amino acid exchanges in two patients but failed to prove a causative role of CLCN6 in that disease."xsd:string |
| http://purl.uniprot.org/citations/16950870 | http://purl.org/dc/terms/identifier | "doi:10.1073/pnas.0606137103"xsd:string |
| http://purl.uniprot.org/citations/16950870 | http://purl.org/dc/terms/identifier | "doi:10.1073/pnas.0606137103"xsd:string |
| http://purl.uniprot.org/citations/16950870 | http://purl.uniprot.org/core/author | "Schweizer M."xsd:string |
| http://purl.uniprot.org/citations/16950870 | http://purl.uniprot.org/core/author | "Schweizer M."xsd:string |
| http://purl.uniprot.org/citations/16950870 | http://purl.uniprot.org/core/author | "Schmitt A."xsd:string |
| http://purl.uniprot.org/citations/16950870 | http://purl.uniprot.org/core/author | "Schmitt A."xsd:string |
| http://purl.uniprot.org/citations/16950870 | http://purl.uniprot.org/core/author | "Zdebik A.A."xsd:string |
| http://purl.uniprot.org/citations/16950870 | http://purl.uniprot.org/core/author | "Zdebik A.A."xsd:string |
| http://purl.uniprot.org/citations/16950870 | http://purl.uniprot.org/core/author | "Wurst W."xsd:string |
| http://purl.uniprot.org/citations/16950870 | http://purl.uniprot.org/core/author | "Wurst W."xsd:string |
| http://purl.uniprot.org/citations/16950870 | http://purl.uniprot.org/core/author | "Jentsch T.J."xsd:string |
| http://purl.uniprot.org/citations/16950870 | http://purl.uniprot.org/core/author | "Jentsch T.J."xsd:string |
| http://purl.uniprot.org/citations/16950870 | http://purl.uniprot.org/core/author | "Kornak U."xsd:string |
| http://purl.uniprot.org/citations/16950870 | http://purl.uniprot.org/core/author | "Kornak U."xsd:string |
| http://purl.uniprot.org/citations/16950870 | http://purl.uniprot.org/core/author | "Huebner C.A."xsd:string |
| http://purl.uniprot.org/citations/16950870 | http://purl.uniprot.org/core/author | "Huebner C.A."xsd:string |
| http://purl.uniprot.org/citations/16950870 | http://purl.uniprot.org/core/author | "Mole S.E."xsd:string |
| http://purl.uniprot.org/citations/16950870 | http://purl.uniprot.org/core/author | "Mole S.E."xsd:string |
| http://purl.uniprot.org/citations/16950870 | http://purl.uniprot.org/core/author | "Fuhrmann J.C."xsd:string |
| http://purl.uniprot.org/citations/16950870 | http://purl.uniprot.org/core/author | "Fuhrmann J.C."xsd:string |
| http://purl.uniprot.org/citations/16950870 | http://purl.uniprot.org/core/author | "Hoelter S."xsd:string |
| http://purl.uniprot.org/citations/16950870 | http://purl.uniprot.org/core/author | "Hoelter S."xsd:string |