| http://purl.uniprot.org/citations/35816398 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/35816398 | http://www.w3.org/2000/01/rdf-schema#comment | "Zebrafish are an emerging model organism to study the syndromic albinism disorder, Hermansky-Pudlak syndrome (HPS), due to visible pigment development at 24 hours postfertilization, and conserved melanogenesis mechanisms. We describe crasher, a novel HPS type 10 (HPS10) zebrafish model, with a mutation in AP-3 complex subunit delta gene, ap3d1. Exon 14 of ap3d1 is overexpressed in crasher mutants, while the expression of ap3d1 as a whole is reduced. ap3d1 knockout in *AB zebrafish recapitulates the mutant crasher phenotype. We show ap3d1 loss-of-function mutations cause significant expression changes in the melanogenesis genes, dopachrome tautomerase (dct) and tyrosinase-related protein 1b (tyrp1b), but not tyrosinase (tyr). Last, Generally Applicable Gene-set Enrichment (GAGE) analysis suggests autophagy pathway genes are upregulated together in crasher. Treatment with autophagy-inhibitor, bafilomycin A1, significantly decreases melanophore number in crasher, suggesting ap3d1 promotes melanophore survival by limiting excessive autophagy. crasher is a valuable model to explore the regulation of melanogenesis gene expression and pigmentation disease."xsd:string |
| http://purl.uniprot.org/citations/35816398 | http://purl.org/dc/terms/identifier | "doi:10.1111/pcmr.13055"xsd:string |
| http://purl.uniprot.org/citations/35816398 | http://purl.uniprot.org/core/author | "Brown A."xsd:string |
| http://purl.uniprot.org/citations/35816398 | http://purl.uniprot.org/core/author | "New L."xsd:string |
| http://purl.uniprot.org/citations/35816398 | http://purl.uniprot.org/core/author | "Cooper C.D."xsd:string |
| http://purl.uniprot.org/citations/35816398 | http://purl.uniprot.org/core/author | "Clancey L.F."xsd:string |
| http://purl.uniprot.org/citations/35816398 | http://purl.uniprot.org/core/author | "Beltran-Cardona D."xsd:string |
| http://purl.uniprot.org/citations/35816398 | http://purl.uniprot.org/core/author | "Jimenez-Perez K."xsd:string |
| http://purl.uniprot.org/citations/35816398 | http://purl.uniprot.org/core/author | "Neuffer S.J."xsd:string |
| http://purl.uniprot.org/citations/35816398 | http://purl.uniprot.org/core/date | "2022"xsd:gYear |
| http://purl.uniprot.org/citations/35816398 | http://purl.uniprot.org/core/name | "Pigment Cell Melanoma Res"xsd:string |
| http://purl.uniprot.org/citations/35816398 | http://purl.uniprot.org/core/pages | "495-505"xsd:string |
| http://purl.uniprot.org/citations/35816398 | http://purl.uniprot.org/core/title | "AP-3 complex subunit delta gene, ap3d1, regulates melanogenesis and melanophore survival via autophagy in zebrafish (Danio rerio)."xsd:string |
| http://purl.uniprot.org/citations/35816398 | http://purl.uniprot.org/core/volume | "35"xsd:string |
| http://purl.uniprot.org/citations/35816398 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/35816398 |
| http://purl.uniprot.org/citations/35816398 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/35816398 |
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