Publication
Development of Engineered-U1 snRNA Therapies: Current Status
| dc.contributor.author | Gonçalves, Mariana | |
| dc.contributor.author | Santos, Juliana Inês | |
| dc.contributor.author | Coutinho, Maria Francisca | |
| dc.contributor.author | Matos, Liliana | |
| dc.contributor.author | Alves, Sandra | |
| dc.date.accessioned | 2024-02-19T16:16:42Z | |
| dc.date.available | 2024-02-19T16:16:42Z | |
| dc.date.issued | 2023-09-27 | |
| dc.description | Review | pt_PT |
| dc.description | (This article belongs to the Special Issue Future Challenges and Trends of Nucleic Acids) | pt_PT |
| dc.description.abstract | Splicing of pre-mRNA is a crucial regulatory stage in the pathway of gene expression. The majority of human genes that encode proteins undergo alternative pre-mRNA splicing and mutations that affect splicing are more prevalent than previously thought. Targeting aberrant RNA(s) may thus provide an opportunity to correct faulty splicing and potentially treat numerous genetic disorders. To that purpose, the use of engineered U1 snRNA (either modified U1 snRNAs or exon-specific U1s-ExSpeU1s) has been applied as a potentially therapeutic strategy to correct splicing mutations, particularly those affecting the 5' splice-site (5'ss). Here we review and summarize a vast panoply of studies that used either modified U1 snRNAs or ExSpeU1s to mediate gene therapeutic correction of splicing defects underlying a considerable number of genetic diseases. We also focus on the pre-clinical validation of these therapeutic approaches both in vitro and in vivo, and summarize the main obstacles that need to be overcome to allow for their successful translation to clinic practice in the future. | pt_PT |
| dc.description.sponsorship | Funding: This work was financially supported with funding from FCT/MCTES (UIDB/00211/2020) through national funds, and also partially supported by the MPS Society project (2019DGH1642) and the LA/P/0059/2020—Laboratório Associado para a Ciência Animal e Veterinária/Associate Laboratory for Animal and Veterinary Sciences (AL4animalS). | pt_PT |
| dc.description.version | info:eu-repo/semantics/publishedVersion | pt_PT |
| dc.identifier.citation | Int J Mol Sci . 2023 Sep 27;24(19):14617. doi: 10.3390/ijms241914617. Review | pt_PT |
| dc.identifier.doi | 10.3390/ijms241914617 | pt_PT |
| dc.identifier.issn | 1422-0067 | |
| dc.identifier.uri | http://hdl.handle.net/10400.18/9126 | |
| dc.language.iso | eng | pt_PT |
| dc.peerreviewed | yes | pt_PT |
| dc.publisher | MDPI | pt_PT |
| dc.relation | Center for the Study of Animal Science | |
| dc.relation | Associate Laboratory for Animal and Veterinary Sciences | |
| dc.relation.publisherversion | https://www.mdpi.com/1422-0067/24/19/14617 | pt_PT |
| dc.rights.uri | http://creativecommons.org/licenses/by/4.0/ | pt_PT |
| dc.subject | U1 snRNA (Small Nuclear RNA)-based Therapies | pt_PT |
| dc.subject | Modified U1 snRNAs | pt_PT |
| dc.subject | Exon-specific U1 snRNAs (ExSpeU1s) | pt_PT |
| dc.subject | 5′ splice-site (5′ss) | pt_PT |
| dc.subject | Splicing Mutations | pt_PT |
| dc.subject | Splicing Correction | pt_PT |
| dc.subject | Genética Humana | pt_PT |
| dc.subject | Doenças Genéticas | pt_PT |
| dc.title | Development of Engineered-U1 snRNA Therapies: Current Status | pt_PT |
| dc.type | journal article | |
| dspace.entity.type | Publication | |
| oaire.awardTitle | Center for the Study of Animal Science | |
| oaire.awardTitle | Associate Laboratory for Animal and Veterinary Sciences | |
| oaire.awardURI | info:eu-repo/grantAgreement/FCT/6817 - DCRRNI ID/UIDB%2F00211%2F2020/PT | |
| oaire.awardURI | info:eu-repo/grantAgreement/FCT/6817 - DCRRNI ID/LA%2FP%2F0059%2F2020/PT | |
| oaire.citation.issue | 19 | pt_PT |
| oaire.citation.startPage | 14617 | pt_PT |
| oaire.citation.title | International Journal of Molecular Sciences | pt_PT |
| oaire.citation.volume | 24 | pt_PT |
| oaire.fundingStream | 6817 - DCRRNI ID | |
| oaire.fundingStream | 6817 - DCRRNI ID | |
| project.funder.identifier | http://doi.org/10.13039/501100001871 | |
| project.funder.identifier | http://doi.org/10.13039/501100001871 | |
| project.funder.name | Fundação para a Ciência e a Tecnologia | |
| project.funder.name | Fundação para a Ciência e a Tecnologia | |
| rcaap.embargofct | Acesso de acordo com política editorial da revista. | pt_PT |
| rcaap.rights | openAccess | pt_PT |
| rcaap.type | article | pt_PT |
| relation.isProjectOfPublication | 69b75eb9-6f25-4ad8-98db-6cc7e9bcdcc7 | |
| relation.isProjectOfPublication | 93de5af7-dedc-4696-ae11-592584b020a8 | |
| relation.isProjectOfPublication.latestForDiscovery | 69b75eb9-6f25-4ad8-98db-6cc7e9bcdcc7 |