| http://purl.uniprot.org/citations/23063131 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/23063131 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/23063131 | http://www.w3.org/2000/01/rdf-schema#comment | "Spinal muscular atrophy (SMA) is a motor neuron disease caused by deficiency of the ubiquitous survival motor neuron (SMN) protein. To define the mechanisms of selective neuronal dysfunction in SMA, we investigated the role of SMN-dependent U12 splicing events in the regulation of motor circuit activity. We show that SMN deficiency perturbs splicing and decreases the expression of a subset of U12 intron-containing genes in mammalian cells and Drosophila larvae. Analysis of these SMN target genes identifies Stasimon as a protein required for motor circuit function. Restoration of Stasimon expression in the motor circuit corrects defects in neuromuscular junction transmission and muscle growth in Drosophila SMN mutants and aberrant motor neuron development in SMN-deficient zebrafish. These findings directly link defective splicing of critical neuronal genes induced by SMN deficiency to motor circuit dysfunction, establishing a molecular framework for the selective pathology of SMA."xsd:string |
| http://purl.uniprot.org/citations/23063131 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.cell.2012.09.012"xsd:string |
| http://purl.uniprot.org/citations/23063131 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.cell.2012.09.012"xsd:string |
| http://purl.uniprot.org/citations/23063131 | http://purl.uniprot.org/core/author | "Jiao W."xsd:string |
| http://purl.uniprot.org/citations/23063131 | http://purl.uniprot.org/core/author | "Jiao W."xsd:string |
| http://purl.uniprot.org/citations/23063131 | http://purl.uniprot.org/core/author | "Lotti F."xsd:string |
| http://purl.uniprot.org/citations/23063131 | http://purl.uniprot.org/core/author | "Lotti F."xsd:string |
| http://purl.uniprot.org/citations/23063131 | http://purl.uniprot.org/core/author | "Li D.K."xsd:string |
| http://purl.uniprot.org/citations/23063131 | http://purl.uniprot.org/core/author | "Li D.K."xsd:string |
| http://purl.uniprot.org/citations/23063131 | http://purl.uniprot.org/core/author | "Pellizzoni L."xsd:string |
| http://purl.uniprot.org/citations/23063131 | http://purl.uniprot.org/core/author | "Pellizzoni L."xsd:string |
| http://purl.uniprot.org/citations/23063131 | http://purl.uniprot.org/core/author | "Beattie C.E."xsd:string |
| http://purl.uniprot.org/citations/23063131 | http://purl.uniprot.org/core/author | "Beattie C.E."xsd:string |
| http://purl.uniprot.org/citations/23063131 | http://purl.uniprot.org/core/author | "Hao le T."xsd:string |
| http://purl.uniprot.org/citations/23063131 | http://purl.uniprot.org/core/author | "Hao le T."xsd:string |
| http://purl.uniprot.org/citations/23063131 | http://purl.uniprot.org/core/author | "Saieva L."xsd:string |
| http://purl.uniprot.org/citations/23063131 | http://purl.uniprot.org/core/author | "Saieva L."xsd:string |
| http://purl.uniprot.org/citations/23063131 | http://purl.uniprot.org/core/author | "McCabe B.D."xsd:string |
| http://purl.uniprot.org/citations/23063131 | http://purl.uniprot.org/core/author | "McCabe B.D."xsd:string |
| http://purl.uniprot.org/citations/23063131 | http://purl.uniprot.org/core/author | "Imlach W.L."xsd:string |
| http://purl.uniprot.org/citations/23063131 | http://purl.uniprot.org/core/author | "Imlach W.L."xsd:string |
| http://purl.uniprot.org/citations/23063131 | http://purl.uniprot.org/core/author | "Beck E.S."xsd:string |
| http://purl.uniprot.org/citations/23063131 | http://purl.uniprot.org/core/author | "Beck E.S."xsd:string |