| http://purl.uniprot.org/citations/28289706 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/28289706 | http://www.w3.org/2000/01/rdf-schema#comment | "Spinal muscular atrophy (SMA) is a leading genetic cause of infantile death and is caused by the loss of survival motor neuron-1 (SMN1). Importantly, a nearly identical gene is present called SMN2; however, the majority of SMN2-derived transcripts are alternatively spliced and encode a truncated, dysfunctional protein. Recently, several compounds designed to increase SMN protein have entered clinical trials, including antisense oligonucleotides (ASOs), traditional small molecules, and gene therapy. Expanding beyond SMN-centric therapeutics is important, as it is likely that the breadth of the patient spectrum and the inherent complexity of the disease will be difficult to address with a single therapeutic strategy. Several SMN-independent pathways that could impinge upon the SMA phenotype have been examined with varied success. To identify disease-modifying pathways that could serve as stand-alone therapeutic targets or could be used in combination with an SMN-inducing compound, we investigated adeno-associated virus-mediated (AAV-mediated) gene therapy using plastin-3 (PLS3). Here, we report that AAV9-PLS3 extends survival in an intermediate model of SMA mice as well as in a pharmacologically induced model of SMA using a splice-switching ASO that increases SMN production. PLS3 coadministration improves the phenotype beyond the ASO, demonstrating the potential utility of combinatorial therapeutics in SMA that target SMN-independent and SMN-dependent pathways."xsd:string |
| http://purl.uniprot.org/citations/28289706 | http://purl.org/dc/terms/identifier | "doi:10.1172/jci.insight.89970"xsd:string |
| http://purl.uniprot.org/citations/28289706 | http://purl.uniprot.org/core/author | "Lorson C.L."xsd:string |
| http://purl.uniprot.org/citations/28289706 | http://purl.uniprot.org/core/author | "Arnold L.L."xsd:string |
| http://purl.uniprot.org/citations/28289706 | http://purl.uniprot.org/core/author | "Glascock J.J."xsd:string |
| http://purl.uniprot.org/citations/28289706 | http://purl.uniprot.org/core/author | "Villalon E."xsd:string |
| http://purl.uniprot.org/citations/28289706 | http://purl.uniprot.org/core/author | "Osman E.Y."xsd:string |
| http://purl.uniprot.org/citations/28289706 | http://purl.uniprot.org/core/author | "Cornelison D.D.W."xsd:string |
| http://purl.uniprot.org/citations/28289706 | http://purl.uniprot.org/core/author | "Kaifer K.A."xsd:string |
| http://purl.uniprot.org/citations/28289706 | http://purl.uniprot.org/core/date | "2017"xsd:gYear |
| http://purl.uniprot.org/citations/28289706 | http://purl.uniprot.org/core/name | "JCI Insight"xsd:string |
| http://purl.uniprot.org/citations/28289706 | http://purl.uniprot.org/core/pages | "e89970"xsd:string |
| http://purl.uniprot.org/citations/28289706 | http://purl.uniprot.org/core/title | "Plastin-3 extends survival and reduces severity in mouse models of spinal muscular atrophy."xsd:string |
| http://purl.uniprot.org/citations/28289706 | http://purl.uniprot.org/core/volume | "2"xsd:string |
| http://purl.uniprot.org/citations/28289706 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/28289706 |
| http://purl.uniprot.org/citations/28289706 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/28289706 |
| http://purl.uniprot.org/uniprot/#_A0A1C7CYV0-mappedCitation-28289706 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/28289706 |
| http://purl.uniprot.org/uniprot/#_A0A411D759-mappedCitation-28289706 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/28289706 |
| http://purl.uniprot.org/uniprot/#_B1AX58-mappedCitation-28289706 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/28289706 |
| http://purl.uniprot.org/uniprot/#_D6RI18-mappedCitation-28289706 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/28289706 |
| http://purl.uniprot.org/uniprot/#_G3UY08-mappedCitation-28289706 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/28289706 |
| http://purl.uniprot.org/uniprot/#_B8JJX7-mappedCitation-28289706 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/28289706 |
| http://purl.uniprot.org/uniprot/#_G3UZU3-mappedCitation-28289706 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/28289706 |
| http://purl.uniprot.org/uniprot/#_G3UYV0-mappedCitation-28289706 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/28289706 |