| http://purl.uniprot.org/citations/17868323 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/17868323 | http://www.w3.org/2000/01/rdf-schema#comment | "Juvenile neuronal ceroid lipofuscinosis (Batten disease) is a neurodegenerative disorder caused by defective function of the lysosomal membrane glycoprotein CLN3. The activity of the lysosomal acid phosphatase (LAP/ACP2) was found to be significantly increased in the cerebellum and brain stem of Cln3-targeted mice during the early stages of postnatal life. Histochemical localization studies revealed an increased LAP/ACP2 staining intensity in neurons of the cerebral cortex of 48-week-old Cln3-targeted mice as compared with controls. Additionally, the expression of another lysosomal membrane protein LAMP-2 was increased in all brain areas. Knockdown of CLN3 expression in HeLa cells by RNA interference also resulted in increased LAP/ACP2 and LAMP-2 expression. Finally in fibroblasts of two juvenile neuronal ceroid lipofuscinosis patients elevated levels of LAP/ACP2 were found. Both activation of gene transcription and increased protein half-life appear to contribute to increased LAP/ACP2 protein expression in CLN3-deficient cells. The data suggest that lysosomal dysfunction and accumulation of storage material require increased biogenesis of LAP/ACP2 and LAMP-2 positive membranes which makes LAP/ACP2 suitable as biomarker of Batten disease."xsd:string |
| http://purl.uniprot.org/citations/17868323 | http://purl.org/dc/terms/identifier | "doi:10.1111/j.1471-4159.2007.04920.x"xsd:string |
| http://purl.uniprot.org/citations/17868323 | http://purl.uniprot.org/core/author | "Mitchison H.M."xsd:string |
| http://purl.uniprot.org/citations/17868323 | http://purl.uniprot.org/core/author | "Braulke T."xsd:string |
| http://purl.uniprot.org/citations/17868323 | http://purl.uniprot.org/core/author | "Pohl S."xsd:string |
| http://purl.uniprot.org/citations/17868323 | http://purl.uniprot.org/core/author | "Storch S."xsd:string |
| http://purl.uniprot.org/citations/17868323 | http://purl.uniprot.org/core/author | "Kohlschutter A."xsd:string |
| http://purl.uniprot.org/citations/17868323 | http://purl.uniprot.org/core/author | "van Diggelen O."xsd:string |
| http://purl.uniprot.org/citations/17868323 | http://purl.uniprot.org/core/date | "2007"xsd:gYear |
| http://purl.uniprot.org/citations/17868323 | http://purl.uniprot.org/core/name | "J Neurochem"xsd:string |
| http://purl.uniprot.org/citations/17868323 | http://purl.uniprot.org/core/pages | "2177-2188"xsd:string |
| http://purl.uniprot.org/citations/17868323 | http://purl.uniprot.org/core/title | "Increased expression of lysosomal acid phosphatase in CLN3-defective cells and mouse brain tissue."xsd:string |
| http://purl.uniprot.org/citations/17868323 | http://purl.uniprot.org/core/volume | "103"xsd:string |
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