Publication
Antisense oligonucleotide exon-skipping as a therapeutic approach for a rare disease
| dc.contributor.author | Gonçalves, Mariana | |
| dc.contributor.author | Matos, Liliana | |
| dc.contributor.author | Santos, Juliana I. | |
| dc.contributor.author | Coutinho, Maria Francisca | |
| dc.contributor.author | Prata, Maria João | |
| dc.contributor.author | Pires, Maria João | |
| dc.contributor.author | Oliveira, Paula | |
| dc.contributor.author | Omidi, Maryam | |
| dc.contributor.author | Pohl, Sandra | |
| dc.contributor.author | Alves, Sandra | |
| dc.date.accessioned | 2024-02-27T16:19:04Z | |
| dc.date.available | 2024-02-27T16:19:04Z | |
| dc.date.issued | 2023-03 | |
| dc.description.abstract | Mucolipidosis II (MLII) is a Lysosomal Storage Disorder caused by the deficiency of the enzyme GlcNAc-1-phosphotransferase, which is responsible for the Mannose- 6-Phosphate marker addition to lysosomal enzymes. Of all MLII mutations, the c.3503_3504delTC in GNPTAB exon 19 is the most frequent, making it a good target for a personalized therapy. Here, we explored an innovative therapeutic strategy based on the use of antisense oligonucleotides (ASOs) for MLII. Previously, on MLII patients’ fibroblasts, ASOs were used to skip exon 19 of the GNPTAB pre-mRNA, successfully resulting in the production of an in-frame mRNA[1]. Now, our aim is to analyze if these results are translated to the enzymatic and cellular phenotype level. | pt_PT |
| dc.description.sponsorship | This work is supported by the Portuguese Foundation for Science and Technology (FCT), project SpliceTher (PTDC/BBB-BMD/6301/2014), by the “Bolsa da Sociedade Portuguesa de Doenças Metabólicas (SPDM) de apoio à investigação Dr. Aguinaldo Cabral 2019” (2020DGH1834) and by the Center for the Study of Animal Science (CECA- ICETA), University of Porto, Portugal. | pt_PT |
| dc.description.version | N/A | pt_PT |
| dc.identifier.uri | http://hdl.handle.net/10400.18/9144 | |
| dc.language.iso | eng | pt_PT |
| dc.peerreviewed | no | pt_PT |
| dc.subject | Mucolipidosis II | pt_PT |
| dc.subject | Lysosomal Storage Disorder | pt_PT |
| dc.subject | Genética Humana | pt_PT |
| dc.subject | Doenças Genéticas | pt_PT |
| dc.subject | Rare Disease | |
| dc.title | Antisense oligonucleotide exon-skipping as a therapeutic approach for a rare disease | pt_PT |
| dc.type | conference object | |
| dspace.entity.type | Publication | |
| oaire.awardURI | info:eu-repo/grantAgreement/FCT/3599-PPCDT/PTDC%2FBBB-BMD%2F6301%2F2014/PT | |
| oaire.citation.conferencePlace | Berlim, Alemanha | pt_PT |
| oaire.citation.title | RE(ACT) Congress – International Congress of Research on Rare and Orphan Diseases, 15-18 March 2023 | pt_PT |
| oaire.fundingStream | 3599-PPCDT | |
| project.funder.identifier | http://doi.org/10.13039/501100001871 | |
| project.funder.name | Fundação para a Ciência e a Tecnologia | |
| rcaap.rights | restrictedAccess | pt_PT |
| rcaap.type | conferenceObject | pt_PT |
| relation.isProjectOfPublication | 82ca1b56-9fd8-4a11-b89d-6bc8dd3c27f1 | |
| relation.isProjectOfPublication.latestForDiscovery | 82ca1b56-9fd8-4a11-b89d-6bc8dd3c27f1 |