Publication
Future perspectives using Lysosomal Storage Disease iPSCs models and gene editing therapy
| dc.contributor.author | Ribeiro, Diogo | |
| dc.contributor.author | Duarte, Ana Joana | |
| dc.contributor.author | Amaral, Olga | |
| dc.date.accessioned | 2022-07-09T15:35:50Z | |
| dc.date.available | 2022-07-09T15:35:50Z | |
| dc.date.issued | 2021-06-28 | |
| dc.description | Trabalho iniciado no âmbito de PTDC/BIM-MEC/4762/2014 (2016-2020) e de doutoramentos na UP (ICBAS) de Diogo Ribeiro e Ana Joana Duarte (co-1º autores) | pt_PT |
| dc.description.abstract | Lysosomal storage diseases (LSDs) are characterized by accumulation of macromolecules in the late endocytic system. Their collective frequency of 1/5000 live births and are caused by inherited defects in genes that mainly encode lysosomal proteins (1). In the Portuguese population, lysosomal storage disorders (LSDs) have a prevalence of 1/4000 live births. Tay Sachs disease (TSD, MIM#272800) variant B1 is one of the most prevalent in the Portuguese population (2). The TSD variant B1 is caused by mutations on the HEXA gene (MIM#606869.0006), leading to hexosaminidase A malfunction. The mutation subject of this study, p.R178H (rs28941770), is frequent in specific populations. In the Portuguese it has a carrier frequency of 1:340, and in the North of Portugal it was estimated to be 1:119. Fabry disease ((FD, MIM#301500)) is one of the most frequent LSDs, it is caused by mutations on the GLA gene (MIM#300644), such as the mutation p.W287X (rs104894839), leading to alpha-galactosidase A impairment. Gaucher disease (GD) is also a frequent LSD and it is, usually, due to deficient activity of lysosomal acid beta glucosidase (GBA1, MIM#606463). It has several phenotypic forms (GD1, 230800; GD2, 230900; and GD3; 231000) of which the most severe are neurodegenerative and elude common therapies. In our group, we are attempting to use gene editing through CRISPR/Cas9 as a therapeutic tool to correct specific mutations involved in the abovementioned diseases. Our aim is first to obtain induced pluripotent stem cells (iPSCs) derived from these cell lines and then to correct the mutational defects. | pt_PT |
| dc.description.sponsorship | FCT - PTDC/BIM-MEC/4762/2014 (2016); UIDB/00211/2020 | pt_PT |
| dc.description.version | info:eu-repo/semantics/publishedVersion | pt_PT |
| dc.identifier.uri | http://hdl.handle.net/10400.18/8139 | |
| dc.language.iso | eng | pt_PT |
| dc.peerreviewed | yes | pt_PT |
| dc.relation | Center for the Study of Animal Science | |
| dc.relation.publisherversion | https://www.encontrociencia.pt/2021/ | pt_PT |
| dc.subject | Human Genetics | pt_PT |
| dc.subject | iPSCs | pt_PT |
| dc.subject | Cell Models | pt_PT |
| dc.subject | Lysosomal Disorders | pt_PT |
| dc.subject | CRISPR Based Gene Editing | pt_PT |
| dc.subject | Doenças Genéticas | pt_PT |
| dc.title | Future perspectives using Lysosomal Storage Disease iPSCs models and gene editing therapy | pt_PT |
| dc.type | conference object | |
| dspace.entity.type | Publication | |
| oaire.awardTitle | Center for the Study of Animal Science | |
| oaire.awardURI | info:eu-repo/grantAgreement/FCT/3599-PPCDT/PTDC%2FBIM-MEC%2F4762%2F2014/PT | |
| oaire.awardURI | info:eu-repo/grantAgreement/FCT/6817 - DCRRNI ID/UIDB%2F00211%2F2020/PT | |
| oaire.citation.conferencePlace | Lisboa, Portugal /Online | pt_PT |
| oaire.citation.title | Encontro Ciência 2021 - Encontro com a Ciência e Tecnologia em Portugal, 28-30 junho 2021 | pt_PT |
| oaire.fundingStream | 3599-PPCDT | |
| oaire.fundingStream | 6817 - DCRRNI ID | |
| person.familyName | Amaral | |
| person.givenName | Olga | |
| person.identifier.ciencia-id | 6F1F-54A3-BBB9 | |
| person.identifier.orcid | 0000-0002-3478-2122 | |
| person.identifier.scopus-author-id | 7004054964 | |
| 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.rights | openAccess | pt_PT |
| rcaap.type | conferenceObject | pt_PT |
| relation.isAuthorOfPublication | 8c7fb04a-80c0-4dd7-b3c5-682f6d25662b | |
| relation.isAuthorOfPublication.latestForDiscovery | 8c7fb04a-80c0-4dd7-b3c5-682f6d25662b | |
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