| http://purl.uniprot.org/citations/23499937 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/23499937 | http://www.w3.org/2000/01/rdf-schema#comment | "Kufor-Rakeb syndrome (KRS) was originally described as an autosomal recessive form of early-onset parkinsonism with pyramidal degeneration and dementia. ATP13A2 was identified as the causative gene in KRS. ATP13A2 encodes the ATP13A2 protein, which is a lysosomal type5 P-type ATPase, and ATP13A2 mutations are linked to autosomal recessive familial parkinsonism. Here, we report that normal ATP13A2 localizes in the lysosome, whereas disease-associated variants remain in the endoplasmic reticulum. Cathepsin D activity was decreased in ATP13A2-knockdown cells that displayed lysosome-like bodies characterized by fingerprint-like structures. Furthermore, an atp13a2 mutation in medaka fish resulted in dopaminergic neuronal death, decreased cathepsin D activity, and fingerprint-like structures in the brain. Based on these results, lysosome abnormality is very likely to be the primary cause of KRS/PARK9."xsd:string |
| http://purl.uniprot.org/citations/23499937 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.febslet.2013.02.046"xsd:string |
| http://purl.uniprot.org/citations/23499937 | http://purl.uniprot.org/core/author | "Toyoda A."xsd:string |
| http://purl.uniprot.org/citations/23499937 | http://purl.uniprot.org/core/author | "Ito H."xsd:string |
| http://purl.uniprot.org/citations/23499937 | http://purl.uniprot.org/core/author | "Matsui H."xsd:string |
| http://purl.uniprot.org/citations/23499937 | http://purl.uniprot.org/core/author | "Koike M."xsd:string |
| http://purl.uniprot.org/citations/23499937 | http://purl.uniprot.org/core/author | "Sakaki Y."xsd:string |
| http://purl.uniprot.org/citations/23499937 | http://purl.uniprot.org/core/author | "Sato F."xsd:string |
| http://purl.uniprot.org/citations/23499937 | http://purl.uniprot.org/core/author | "Sato S."xsd:string |
| http://purl.uniprot.org/citations/23499937 | http://purl.uniprot.org/core/author | "Taniguchi Y."xsd:string |
| http://purl.uniprot.org/citations/23499937 | http://purl.uniprot.org/core/author | "Takahashi R."xsd:string |
| http://purl.uniprot.org/citations/23499937 | http://purl.uniprot.org/core/author | "Takeda S."xsd:string |
| http://purl.uniprot.org/citations/23499937 | http://purl.uniprot.org/core/author | "Hattori N."xsd:string |
| http://purl.uniprot.org/citations/23499937 | http://purl.uniprot.org/core/author | "Uchiyama Y."xsd:string |
| http://purl.uniprot.org/citations/23499937 | http://purl.uniprot.org/core/author | "Saiki S."xsd:string |
| http://purl.uniprot.org/citations/23499937 | http://purl.uniprot.org/core/author | "Funayama M."xsd:string |
| http://purl.uniprot.org/citations/23499937 | http://purl.uniprot.org/core/author | "Uemura N."xsd:string |
| http://purl.uniprot.org/citations/23499937 | http://purl.uniprot.org/core/author | "Taruno Y."xsd:string |
| http://purl.uniprot.org/citations/23499937 | http://purl.uniprot.org/core/date | "2013"xsd:gYear |
| http://purl.uniprot.org/citations/23499937 | http://purl.uniprot.org/core/name | "FEBS Lett"xsd:string |
| http://purl.uniprot.org/citations/23499937 | http://purl.uniprot.org/core/pages | "1316-1325"xsd:string |
| http://purl.uniprot.org/citations/23499937 | http://purl.uniprot.org/core/title | "ATP13A2 deficiency induces a decrease in cathepsin D activity, fingerprint-like inclusion body formation, and selective degeneration of dopaminergic neurons."xsd:string |
| http://purl.uniprot.org/citations/23499937 | http://purl.uniprot.org/core/volume | "587"xsd:string |
| http://purl.uniprot.org/citations/23499937 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/23499937 |