Publication
Development of a U1 snRNA-adapted gene therapeutic strategy to correct 5’ splicing defects in lysosomal storage disorders
| dc.contributor.author | Alves, Sandra | |
| dc.contributor.author | Pérez, Belén | |
| dc.contributor.author | Desviat, Lourdes | |
| dc.contributor.author | Matos, Liliana | |
| dc.date.accessioned | 2016-03-03T18:12:02Z | |
| dc.date.available | 2017-12-01T01:30:10Z | |
| dc.date.issued | 2015-10 | |
| dc.description.abstract | Study aims: To overcome the pathogenic effect of two 5’ splice donor site (SDS) mutations diagnosed in LSDs patients, we have exploited the use of the antisense-U1 snRNA mediated therapeutic strategy to correct both 5’ SDS mutations that were reported in patients with Mucopolysaccharidosis type I (MPS I) (3) and Mucolipidosis III alpha/beta (ML III alpha/beta). | |
| dc.description.sponsorship | LM was supported by a Grant (SFRH/BD/64592/2009) | pt_PT |
| dc.identifier.uri | http://hdl.handle.net/10400.18/3606 | |
| dc.language.iso | eng | pt_PT |
| dc.subject | Doenças Genéticas | pt_PT |
| dc.subject | U1snRNA Therapy | pt_PT |
| dc.subject | MPS I | pt_PT |
| dc.subject | ML III alpha/beta | pt_PT |
| dc.subject | Lysosomal Storage Disorders (LSDs) | pt_PT |
| dc.title | Development of a U1 snRNA-adapted gene therapeutic strategy to correct 5’ splicing defects in lysosomal storage disorders | pt_PT |
| dc.type | journal article | |
| dspace.entity.type | Publication | |
| oaire.citation.conferencePlace | Leiden, The Netherlands | pt_PT |
| oaire.citation.title | 11th Annual Meeting of the Oligonucleotide Therapeutics Society, 11-14 October 2015 | pt_PT |
| rcaap.rights | restrictedAccess | pt_PT |
| rcaap.type | article | pt_PT |