| http://purl.uniprot.org/citations/27063795 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/27063795 | http://www.w3.org/2000/01/rdf-schema#comment | "Myotonic dystrophy (DM) is caused by the expression of mutant RNAs containing expanded CUG repeats that sequester muscleblind-like (MBNL) proteins, leading to alternative splicing changes. Cardiac alterations, characterized by conduction delays and arrhythmia, are the second most common cause of death in DM. Using RNA sequencing, here we identify novel splicing alterations in DM heart samples, including a switch from adult exon 6B towards fetal exon 6A in the cardiac sodium channel, SCN5A. We find that MBNL1 regulates alternative splicing of SCN5A mRNA and that the splicing variant of SCN5A produced in DM presents a reduced excitability compared with the control adult isoform. Importantly, reproducing splicing alteration of Scn5a in mice is sufficient to promote heart arrhythmia and cardiac-conduction delay, two predominant features of myotonic dystrophy. In conclusion, misregulation of the alternative splicing of SCN5A may contribute to a subset of the cardiac dysfunctions observed in myotonic dystrophy."xsd:string |
| http://purl.uniprot.org/citations/27063795 | http://purl.org/dc/terms/identifier | "doi:10.1038/ncomms11067"xsd:string |
| http://purl.uniprot.org/citations/27063795 | http://purl.uniprot.org/core/author | "Horie M."xsd:string |
| http://purl.uniprot.org/citations/27063795 | http://purl.uniprot.org/core/author | "Kimura T."xsd:string |
| http://purl.uniprot.org/citations/27063795 | http://purl.uniprot.org/core/author | "Itoh H."xsd:string |
| http://purl.uniprot.org/citations/27063795 | http://purl.uniprot.org/core/author | "Lee K.Y."xsd:string |
| http://purl.uniprot.org/citations/27063795 | http://purl.uniprot.org/core/author | "Imoto K."xsd:string |
| http://purl.uniprot.org/citations/27063795 | http://purl.uniprot.org/core/author | "Wang E."xsd:string |
| http://purl.uniprot.org/citations/27063795 | http://purl.uniprot.org/core/author | "Ishiura S."xsd:string |
| http://purl.uniprot.org/citations/27063795 | http://purl.uniprot.org/core/author | "Matsumura T."xsd:string |
| http://purl.uniprot.org/citations/27063795 | http://purl.uniprot.org/core/author | "Udd B."xsd:string |
| http://purl.uniprot.org/citations/27063795 | http://purl.uniprot.org/core/author | "Mochizuki H."xsd:string |
| http://purl.uniprot.org/citations/27063795 | http://purl.uniprot.org/core/author | "Jost B."xsd:string |
| http://purl.uniprot.org/citations/27063795 | http://purl.uniprot.org/core/author | "Linke T."xsd:string |
| http://purl.uniprot.org/citations/27063795 | http://purl.uniprot.org/core/author | "Zimmer T."xsd:string |
| http://purl.uniprot.org/citations/27063795 | http://purl.uniprot.org/core/author | "Day J.W."xsd:string |
| http://purl.uniprot.org/citations/27063795 | http://purl.uniprot.org/core/author | "Nakazawa K."xsd:string |
| http://purl.uniprot.org/citations/27063795 | http://purl.uniprot.org/core/author | "Navratil V."xsd:string |
| http://purl.uniprot.org/citations/27063795 | http://purl.uniprot.org/core/author | "Nukina N."xsd:string |
| http://purl.uniprot.org/citations/27063795 | http://purl.uniprot.org/core/author | "Nakamori M."xsd:string |
| http://purl.uniprot.org/citations/27063795 | http://purl.uniprot.org/core/author | "Vicaire S."xsd:string |
| http://purl.uniprot.org/citations/27063795 | http://purl.uniprot.org/core/author | "Thibault C."xsd:string |
| http://purl.uniprot.org/citations/27063795 | http://purl.uniprot.org/core/author | "Deryckere F."xsd:string |
| http://purl.uniprot.org/citations/27063795 | http://purl.uniprot.org/core/author | "Wahbi K."xsd:string |