| http://purl.uniprot.org/citations/20015953 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/20015953 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/20015953 | http://www.w3.org/2000/01/rdf-schema#comment | "Biogenesis of lysosome-related organelles complex 1 (BLOC-1) is a protein complex formed by the products of eight distinct genes. Loss-of-function mutations in two of these genes, DTNBP1 and BLOC1S3, cause Hermansky-Pudlak syndrome, a human disorder characterized by defective biogenesis of lysosome-related organelles. In addition, haplotype variants within the same two genes have been postulated to increase the risk of developing schizophrenia. However, the molecular function of BLOC-1 remains unknown. Here, we have generated a fly model of BLOC-1 deficiency. Mutant flies lacking the conserved Blos1 subunit displayed eye pigmentation defects due to abnormal pigment granules, which are lysosome-related organelles, as well as abnormal glutamatergic transmission and behavior. Epistatic analyses revealed that BLOC-1 function in pigment granule biogenesis requires the activities of BLOC-2 and a putative Rab guanine-nucleotide-exchange factor named Claret. The eye pigmentation phenotype was modified by misexpression of proteins involved in intracellular protein trafficking; in particular, the phenotype was partially ameliorated by Rab11 and strongly enhanced by the clathrin-disassembly factor, Auxilin. These observations validate Drosophila melanogaster as a powerful model for the study of BLOC-1 function and its interactions with modifier genes."xsd:string |
| http://purl.uniprot.org/citations/20015953 | http://purl.org/dc/terms/identifier | "doi:10.1093/hmg/ddp555"xsd:string |
| http://purl.uniprot.org/citations/20015953 | http://purl.org/dc/terms/identifier | "doi:10.1093/hmg/ddp555"xsd:string |
| http://purl.uniprot.org/citations/20015953 | http://purl.uniprot.org/core/author | "DiAntonio A."xsd:string |
| http://purl.uniprot.org/citations/20015953 | http://purl.uniprot.org/core/author | "DiAntonio A."xsd:string |
| http://purl.uniprot.org/citations/20015953 | http://purl.uniprot.org/core/author | "Chang H.C."xsd:string |
| http://purl.uniprot.org/citations/20015953 | http://purl.uniprot.org/core/author | "Chang H.C."xsd:string |
| http://purl.uniprot.org/citations/20015953 | http://purl.uniprot.org/core/author | "Poole S."xsd:string |
| http://purl.uniprot.org/citations/20015953 | http://purl.uniprot.org/core/author | "Poole S."xsd:string |
| http://purl.uniprot.org/citations/20015953 | http://purl.uniprot.org/core/author | "Dell'Angelica E.C."xsd:string |
| http://purl.uniprot.org/citations/20015953 | http://purl.uniprot.org/core/author | "Dell'Angelica E.C."xsd:string |
| http://purl.uniprot.org/citations/20015953 | http://purl.uniprot.org/core/author | "Martinez-Agosto J.A."xsd:string |
| http://purl.uniprot.org/citations/20015953 | http://purl.uniprot.org/core/author | "Martinez-Agosto J.A."xsd:string |
| http://purl.uniprot.org/citations/20015953 | http://purl.uniprot.org/core/author | "Lloyd V.K."xsd:string |
| http://purl.uniprot.org/citations/20015953 | http://purl.uniprot.org/core/author | "Lloyd V.K."xsd:string |
| http://purl.uniprot.org/citations/20015953 | http://purl.uniprot.org/core/author | "Cheli V.T."xsd:string |
| http://purl.uniprot.org/citations/20015953 | http://purl.uniprot.org/core/author | "Cheli V.T."xsd:string |
| http://purl.uniprot.org/citations/20015953 | http://purl.uniprot.org/core/author | "Daniels R.W."xsd:string |
| http://purl.uniprot.org/citations/20015953 | http://purl.uniprot.org/core/author | "Daniels R.W."xsd:string |
| http://purl.uniprot.org/citations/20015953 | http://purl.uniprot.org/core/author | "Godoy R."xsd:string |
| http://purl.uniprot.org/citations/20015953 | http://purl.uniprot.org/core/author | "Godoy R."xsd:string |
| http://purl.uniprot.org/citations/20015953 | http://purl.uniprot.org/core/author | "Hoyle D.J."xsd:string |
| http://purl.uniprot.org/citations/20015953 | http://purl.uniprot.org/core/author | "Hoyle D.J."xsd:string |