| http://purl.uniprot.org/citations/18332091 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/18332091 | http://www.w3.org/2000/01/rdf-schema#comment | "Most mutations in the rBAT subunit of the heterodimeric cystine transporter rBAT-b(0,+)AT cause type I cystinuria. Trafficking of the transporter requires the intracellular assembly of the two subunits. Without its partner, rBAT, but not b(0,+)AT, is rapidly degraded. We analyzed the initial biogenesis of wild-type rBAT and type I cystinuria rBAT mutants. rBAT was degraded, at least in part, via the ERAD pathway. Assembly with b(0,+)AT within the endoplasmic reticulum (ER) blocked rBAT degradation and could be independent of the calnexin chaperone system. This system was, however, necessary for post-assembly maturation of the heterodimer. Without b(0,+)AT, wild-type and rBAT mutants were degraded with similar kinetics. In its presence, rBAT mutants showed strongly reduced (L89P) or no transport activity, failed to acquire complex N-glycosylation and to oligomerize, suggesting assembly and/or folding defects. Most of the transmembrane domain mutant L89P did not heterodimerize with b(0,+)AT and was degraded. However, the few [L89P]rBAT-b(0,+)AT heterodimers were stable, consistent with assembly, but not folding, defects. Mutants of the rBAT extracellular domain (T216M, R365W, M467K and M467T) efficiently assembled with b(0,+)AT but were subsequently degraded. Together with earlier results, the data suggest a two-step biogenesis model, with the early assembly of the subunits followed by folding of the rBAT extracellular domain. Defects on either of these steps lead to the type I cystinuria phenotype."xsd:string |
| http://purl.uniprot.org/citations/18332091 | http://purl.org/dc/terms/identifier | "doi:10.1093/hmg/ddn080"xsd:string |
| http://purl.uniprot.org/citations/18332091 | http://purl.uniprot.org/core/author | "Palacin M."xsd:string |
| http://purl.uniprot.org/citations/18332091 | http://purl.uniprot.org/core/author | "Zorzano A."xsd:string |
| http://purl.uniprot.org/citations/18332091 | http://purl.uniprot.org/core/author | "Bartoccioni P."xsd:string |
| http://purl.uniprot.org/citations/18332091 | http://purl.uniprot.org/core/author | "Chillaron J."xsd:string |
| http://purl.uniprot.org/citations/18332091 | http://purl.uniprot.org/core/author | "Rius M."xsd:string |
| http://purl.uniprot.org/citations/18332091 | http://purl.uniprot.org/core/date | "2008"xsd:gYear |
| http://purl.uniprot.org/citations/18332091 | http://purl.uniprot.org/core/name | "Hum Mol Genet"xsd:string |
| http://purl.uniprot.org/citations/18332091 | http://purl.uniprot.org/core/pages | "1845-1854"xsd:string |
| http://purl.uniprot.org/citations/18332091 | http://purl.uniprot.org/core/title | "Distinct classes of trafficking rBAT mutants cause the type I cystinuria phenotype."xsd:string |
| http://purl.uniprot.org/citations/18332091 | http://purl.uniprot.org/core/volume | "17"xsd:string |
| http://purl.uniprot.org/citations/18332091 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/18332091 |
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