| http://purl.uniprot.org/citations/29246969 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/29246969 | http://www.w3.org/2000/01/rdf-schema#comment | "Rapid advances in allele-specific silencing by RNA interference established a strategy of choice to cure dominant inherited diseases by targeting mutant alleles. We used this strategy for autosomal-dominant centronuclear myopathy (CNM), a rare neuromuscular disorder without available treatment due to heterozygous mutations in the DNM2 gene encoding Dynamin 2. Allele-specific siRNA sequences were developed in order to specifically knock down the human and murine DNM2-mRNA harbouring the p.R465W mutation without affecting the wild-type allele. Functional restoration was achieved in muscle from a knock-in mouse model and in patient-derived fibroblasts, both expressing the most frequently encountered mutation in patients. Restoring either muscle force in a CNM mouse model or DNM2 function in patient-derived cells is an essential breakthrough towards future gene-based therapy for dominant centronuclear myopathy."xsd:string |
| http://purl.uniprot.org/citations/29246969 | http://purl.org/dc/terms/identifier | "doi:10.15252/emmm.201707988"xsd:string |
| http://purl.uniprot.org/citations/29246969 | http://purl.uniprot.org/core/author | "Laporte J."xsd:string |
| http://purl.uniprot.org/citations/29246969 | http://purl.uniprot.org/core/author | "Bitoun M."xsd:string |
| http://purl.uniprot.org/citations/29246969 | http://purl.uniprot.org/core/author | "Beuvin M."xsd:string |
| http://purl.uniprot.org/citations/29246969 | http://purl.uniprot.org/core/author | "Guicheney P."xsd:string |
| http://purl.uniprot.org/citations/29246969 | http://purl.uniprot.org/core/author | "Lorain S."xsd:string |
| http://purl.uniprot.org/citations/29246969 | http://purl.uniprot.org/core/author | "Mamchaoui K."xsd:string |
| http://purl.uniprot.org/citations/29246969 | http://purl.uniprot.org/core/author | "Prudhon B."xsd:string |
| http://purl.uniprot.org/citations/29246969 | http://purl.uniprot.org/core/author | "Ferry A."xsd:string |
| http://purl.uniprot.org/citations/29246969 | http://purl.uniprot.org/core/author | "Trochet D."xsd:string |
| http://purl.uniprot.org/citations/29246969 | http://purl.uniprot.org/core/author | "Vassilopoulos S."xsd:string |
| http://purl.uniprot.org/citations/29246969 | http://purl.uniprot.org/core/author | "Julien L."xsd:string |
| http://purl.uniprot.org/citations/29246969 | http://purl.uniprot.org/core/author | "Peccate C."xsd:string |
| http://purl.uniprot.org/citations/29246969 | http://purl.uniprot.org/core/author | "Benkhelifa-Ziyyat S."xsd:string |
| http://purl.uniprot.org/citations/29246969 | http://purl.uniprot.org/core/author | "Rabai A."xsd:string |
| http://purl.uniprot.org/citations/29246969 | http://purl.uniprot.org/core/date | "2018"xsd:gYear |
| http://purl.uniprot.org/citations/29246969 | http://purl.uniprot.org/core/name | "EMBO Mol Med"xsd:string |
| http://purl.uniprot.org/citations/29246969 | http://purl.uniprot.org/core/pages | "239-253"xsd:string |
| http://purl.uniprot.org/citations/29246969 | http://purl.uniprot.org/core/title | "Allele-specific silencing therapy for Dynamin 2-related dominant centronuclear myopathy."xsd:string |
| http://purl.uniprot.org/citations/29246969 | http://purl.uniprot.org/core/volume | "10"xsd:string |
| http://purl.uniprot.org/citations/29246969 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/29246969 |
| http://purl.uniprot.org/citations/29246969 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/29246969 |
| http://purl.uniprot.org/uniprot/#_G3UXX2-mappedCitation-29246969 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/29246969 |