| http://purl.uniprot.org/citations/20186123 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/20186123 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/20186123 | http://www.w3.org/2000/01/rdf-schema#comment | "Spinal muscular atrophy (SMA) is a neurodegenerative disease caused by loss of motor neurons in patients with null mutations in the SMN1 gene. An almost identical SMN2 gene is unable to compensate for this deficiency because a single C-to-T transition at position +6 in exon-7 causes skipping of the exon by a mechanism not yet fully elucidated. We observed that the C-to-T transition in SMN2 creates a putative binding site for the RNA-binding protein Sam68. RNA pull-down assays and UV-crosslink experiments showed that Sam68 binds to this sequence. In vivo splicing assays showed that Sam68 triggers SMN2 exon-7 skipping. Moreover, mutations in the Sam68-binding site of SMN2 or in the RNA-binding domain of Sam68 completely abrogated its effect on exon-7 skipping. Retroviral infection of dominant-negative mutants of Sam68 that interfere with its RNA-binding activity, or with its binding to the splicing repressor hnRNP A1, enhanced exon-7 inclusion in endogenous SMN2 and rescued SMN protein expression in fibroblasts of SMA patients. Our results thus indicate that Sam68 is a novel crucial regulator of SMN2 splicing."xsd:string |
| http://purl.uniprot.org/citations/20186123 | http://purl.org/dc/terms/identifier | "doi:10.1038/emboj.2010.19"xsd:string |
| http://purl.uniprot.org/citations/20186123 | http://purl.org/dc/terms/identifier | "doi:10.1038/emboj.2010.19"xsd:string |
| http://purl.uniprot.org/citations/20186123 | http://purl.uniprot.org/core/author | "Manley J.L."xsd:string |
| http://purl.uniprot.org/citations/20186123 | http://purl.uniprot.org/core/author | "Manley J.L."xsd:string |
| http://purl.uniprot.org/citations/20186123 | http://purl.uniprot.org/core/author | "Ciccosanti F."xsd:string |
| http://purl.uniprot.org/citations/20186123 | http://purl.uniprot.org/core/author | "Ciccosanti F."xsd:string |
| http://purl.uniprot.org/citations/20186123 | http://purl.uniprot.org/core/author | "Fimia G.M."xsd:string |
| http://purl.uniprot.org/citations/20186123 | http://purl.uniprot.org/core/author | "Fimia G.M."xsd:string |
| http://purl.uniprot.org/citations/20186123 | http://purl.uniprot.org/core/author | "Bielli P."xsd:string |
| http://purl.uniprot.org/citations/20186123 | http://purl.uniprot.org/core/author | "Bielli P."xsd:string |
| http://purl.uniprot.org/citations/20186123 | http://purl.uniprot.org/core/author | "Stamm S."xsd:string |
| http://purl.uniprot.org/citations/20186123 | http://purl.uniprot.org/core/author | "Stamm S."xsd:string |
| http://purl.uniprot.org/citations/20186123 | http://purl.uniprot.org/core/author | "Paronetto M.P."xsd:string |
| http://purl.uniprot.org/citations/20186123 | http://purl.uniprot.org/core/author | "Paronetto M.P."xsd:string |
| http://purl.uniprot.org/citations/20186123 | http://purl.uniprot.org/core/author | "Sette C."xsd:string |
| http://purl.uniprot.org/citations/20186123 | http://purl.uniprot.org/core/author | "Sette C."xsd:string |
| http://purl.uniprot.org/citations/20186123 | http://purl.uniprot.org/core/author | "Pedrotti S."xsd:string |
| http://purl.uniprot.org/citations/20186123 | http://purl.uniprot.org/core/author | "Pedrotti S."xsd:string |
| http://purl.uniprot.org/citations/20186123 | http://purl.uniprot.org/core/date | "2010"xsd:gYear |
| http://purl.uniprot.org/citations/20186123 | http://purl.uniprot.org/core/date | "2010"xsd:gYear |
| http://purl.uniprot.org/citations/20186123 | http://purl.uniprot.org/core/name | "EMBO J."xsd:string |
| http://purl.uniprot.org/citations/20186123 | http://purl.uniprot.org/core/name | "EMBO J."xsd:string |