| http://purl.uniprot.org/citations/10024875 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/10024875 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/10024875 | http://www.w3.org/2000/01/rdf-schema#comment | "Hermansky-Pudlak syndrome (HPS) is a genetic disorder characterized by defective lysosome-related organelles. Here, we report the identification of two HPS patients with mutations in the beta 3A subunit of the heterotetrameric AP-3 complex. The patients' fibroblasts exhibit drastically reduced levels of AP-3 due to enhanced degradation of mutant beta 3A. The AP-3 deficiency results in increased surface expression of the lysosomal membrane proteins CD63, lamp-1, and lamp-2, but not of nonlysosomal proteins. These differential effects are consistent with the preferential interaction of the AP-3 mu 3A subunit with tyrosine-based signals involved in lysosomal targeting. Our results suggest that AP-3 functions in protein sorting to lysosomes and provide an example of a human disease in which altered trafficking of integral membrane proteins is due to mutations in a component of the sorting machinery."xsd:string |
| http://purl.uniprot.org/citations/10024875 | http://purl.org/dc/terms/identifier | "doi:10.1016/s1097-2765(00)80170-7"xsd:string |
| http://purl.uniprot.org/citations/10024875 | http://purl.org/dc/terms/identifier | "doi:10.1016/s1097-2765(00)80170-7"xsd:string |
| http://purl.uniprot.org/citations/10024875 | http://purl.uniprot.org/core/author | "Gahl W.A."xsd:string |
| http://purl.uniprot.org/citations/10024875 | http://purl.uniprot.org/core/author | "Gahl W.A."xsd:string |
| http://purl.uniprot.org/citations/10024875 | http://purl.uniprot.org/core/author | "Bonifacino J.S."xsd:string |
| http://purl.uniprot.org/citations/10024875 | http://purl.uniprot.org/core/author | "Bonifacino J.S."xsd:string |
| http://purl.uniprot.org/citations/10024875 | http://purl.uniprot.org/core/author | "Aguilar R.C."xsd:string |
| http://purl.uniprot.org/citations/10024875 | http://purl.uniprot.org/core/author | "Aguilar R.C."xsd:string |
| http://purl.uniprot.org/citations/10024875 | http://purl.uniprot.org/core/author | "Dell'Angelica E.C."xsd:string |
| http://purl.uniprot.org/citations/10024875 | http://purl.uniprot.org/core/author | "Dell'Angelica E.C."xsd:string |
| http://purl.uniprot.org/citations/10024875 | http://purl.uniprot.org/core/author | "Shotelersuk V."xsd:string |
| http://purl.uniprot.org/citations/10024875 | http://purl.uniprot.org/core/author | "Shotelersuk V."xsd:string |
| http://purl.uniprot.org/citations/10024875 | http://purl.uniprot.org/core/date | "1999"xsd:gYear |
| http://purl.uniprot.org/citations/10024875 | http://purl.uniprot.org/core/date | "1999"xsd:gYear |
| http://purl.uniprot.org/citations/10024875 | http://purl.uniprot.org/core/name | "Mol. Cell"xsd:string |
| http://purl.uniprot.org/citations/10024875 | http://purl.uniprot.org/core/name | "Mol. Cell"xsd:string |
| http://purl.uniprot.org/citations/10024875 | http://purl.uniprot.org/core/pages | "11-21"xsd:string |
| http://purl.uniprot.org/citations/10024875 | http://purl.uniprot.org/core/pages | "11-21"xsd:string |
| http://purl.uniprot.org/citations/10024875 | http://purl.uniprot.org/core/title | "Altered trafficking of lysosomal proteins in Hermansky-Pudlak syndrome due to mutations in the beta 3A subunit of the AP-3 adaptor."xsd:string |
| http://purl.uniprot.org/citations/10024875 | http://purl.uniprot.org/core/title | "Altered trafficking of lysosomal proteins in Hermansky-Pudlak syndrome due to mutations in the beta 3A subunit of the AP-3 adaptor."xsd:string |
| http://purl.uniprot.org/citations/10024875 | http://purl.uniprot.org/core/volume | "3"xsd:string |
| http://purl.uniprot.org/citations/10024875 | http://purl.uniprot.org/core/volume | "3"xsd:string |