Publicação
Induced pluripotent stem cells as genetic disease models.
| dc.contributor.author | Duarte, Ana Joana | |
| dc.contributor.author | Amaral, Olga | |
| dc.contributor.author | Bragança, José | |
| dc.date.accessioned | 2021-03-13T16:50:14Z | |
| dc.date.available | 2021-03-13T16:50:14Z | |
| dc.date.issued | 2020-03-25 | |
| dc.description | Trabalho com aplicação transversal a várias áreas de teste de abordagens terapêuticas diferentes | pt_PT |
| dc.description.abstract | Rare diseases (together representing 1 in 8000) provide a valuable model to study cellular mechanisms involved in health and disease. However, a major obstacle in the study of pathogenic mechanisms and evaluation of new therapeutic approaches is the accessibility of the target cells. Rare diseases of lysosomal accumulation (Lysosomal storage Disorders, LSDs) are multisystemicand exhibit different degrees of involvement, often presenting target cells that can only be obtained through very invasive procedures. The loss of lysosomal integrity influences the entire cellular environment and leads to impairment of cellular function. The importance of iPSCs as experimental models is vast since they provide an optimal platform for investigation pathological mechanisms. | pt_PT |
| dc.description.sponsorship | This work was financed by FCT PTDC/BIM-MEC/4762/2014 | pt_PT |
| dc.description.version | info:eu-repo/semantics/publishedVersion | pt_PT |
| dc.identifier.uri | http://hdl.handle.net/10400.18/7463 | |
| dc.language.iso | eng | pt_PT |
| dc.peerreviewed | yes | pt_PT |
| dc.relation.publisherversion | https://cdn-akamai.labroots.com//479/1534//Cannabis-2020-Poster-Ana-Duarte_15850798457062605.pdf | pt_PT |
| dc.subject | Human Genetics | pt_PT |
| dc.subject | Modelos Celulares | pt_PT |
| dc.subject | Induced Pluripotent Stem Cells | pt_PT |
| dc.subject | Therapeutics Testing | pt_PT |
| dc.subject | Doenças Genéticas | pt_PT |
| dc.title | Induced pluripotent stem cells as genetic disease models. | pt_PT |
| dc.type | conference object | |
| dspace.entity.type | Publication | |
| oaire.awardNumber | PTDC/BIM-MEC/4762/2014 | |
| oaire.awardURI | info:eu-repo/grantAgreement/FCT/3599-PPCDT/PTDC%2FBIM-MEC%2F4762%2F2014/PT | |
| oaire.citation.conferencePlace | (online) | pt_PT |
| oaire.citation.title | 3rd Annual 2020 Cannabis Sciences Virtual Event, 25 March 2020 | 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 | openAccess | pt_PT |
| rcaap.type | conferenceObject | pt_PT |
| relation.isProjectOfPublication | 9452b84c-9691-47bb-82ba-75ed40cdfa04 | |
| relation.isProjectOfPublication.latestForDiscovery | 9452b84c-9691-47bb-82ba-75ed40cdfa04 |
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