| http://purl.uniprot.org/citations/20571502 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/20571502 | http://www.w3.org/2000/01/rdf-schema#comment | "Angelman syndrome (AS) is a human neurological disorder caused by lack of maternal UBE3A expression in the brain. UBE3A is known to function as both an ubiquitin-protein ligase (E3) and a coactivator for steroid receptors. Many ubiquitin targets, as well as interacting partners, of UBE3A have been identified. However, the pathogenesis of AS, and how deficiency of maternal UBE3A can upset cellular homeostasis, remains vague. In this study, we performed a genome-wide microarray analysis on the maternal Ube3a-deficient (Ube3a(m-/p+)) AS mouse to search for genes affected in the absence of Ube3a. We observed 64 differentially expressed transcripts (7 upregulated and 57 downregulated) showing more than 1.5-fold differences in expression (P<0.05). Pathway analysis shows that these genes are implicated in three major networks associated with cell signaling, nervous system development and cell death. Using quantitative reverse-transcription PCR, we validated the differential expression of genes (Fgf7, Glra1, Mc1r, Nr4a2, Slc5a7 and Epha6) that show functional relevance to AS phenotype. We also show that the protein level of melanocortin 1 receptor (Mc1r) and nuclear receptor subfamily 4, group A, member 2 (Nr4a2) in the AS mice cerebellum is decreased relative to that of the wild-type mice. Consistent with this finding, expression of small-interfering RNA that targets Ube3a in P19 cells caused downregulation of Mc1r and Nr4a2, whereas overexpression of Ube3a results in the upregulation of Mc1r and Nr4a2. These observation help in providing insights into the genesis of neurodevelopmental phenotype of AS and highlight specific area for future research."xsd:string |
| http://purl.uniprot.org/citations/20571502 | http://purl.org/dc/terms/identifier | "doi:10.1038/ejhg.2010.95"xsd:string |
| http://purl.uniprot.org/citations/20571502 | http://purl.uniprot.org/core/author | "Low D."xsd:string |
| http://purl.uniprot.org/citations/20571502 | http://purl.uniprot.org/core/author | "Chen K.S."xsd:string |
| http://purl.uniprot.org/citations/20571502 | http://purl.uniprot.org/core/date | "2010"xsd:gYear |
| http://purl.uniprot.org/citations/20571502 | http://purl.uniprot.org/core/name | "Eur J Hum Genet"xsd:string |
| http://purl.uniprot.org/citations/20571502 | http://purl.uniprot.org/core/pages | "1228-1235"xsd:string |
| http://purl.uniprot.org/citations/20571502 | http://purl.uniprot.org/core/title | "Genome-wide gene expression profiling of the Angelman syndrome mice with Ube3a mutation."xsd:string |
| http://purl.uniprot.org/citations/20571502 | http://purl.uniprot.org/core/volume | "18"xsd:string |
| http://purl.uniprot.org/citations/20571502 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/20571502 |
| http://purl.uniprot.org/citations/20571502 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/20571502 |
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