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Applications of iPSCs in Gaucher Disease

dc.contributor.authorAmaral, Olga
dc.contributor.authorduarte, ana
dc.contributor.authorRibeiro, Diogo
dc.contributor.authorSantos, Renato
dc.contributor.authorBragança, José
dc.date.accessioned2021-04-21T17:13:39Z
dc.date.available2021-04-21T17:13:39Z
dc.date.issued2020-05-25
dc.description.abstractIn recent years, human induced pluripotent cell (hiPSC) models have slowly become a trend in experimental modelling of disease, following and complementing animal based models. Human iPSCs provide an innovative manner for modelling Gaucher Disease (GD). Since 2008 several groups have created iPSCs models from GD patients, with various genotypes, and differentiated iPSCs to neural precursors and macrophages among many other types of cells. hiPSC models have been developed from multiple GD donors, recapitulating the disease phenotypic hallmarks. These models have provided a new platform for pathophysiology studies and for the testing of small molecules with therapeutic goals.pt_PT
dc.description.sponsorshipFCT-MCTES projects PTDC/BIM-MEC/4762/2014 (OA), UIDB/00211/2020 (ICETA), PTDC/BTM-TEC/28044/2017 (JB). INSARJ (MS).pt_PT
dc.description.versionN/Apt_PT
dc.identifier.urihttp://hdl.handle.net/10400.18/7689
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.relation.publisherversionhttps://www.ewggd2020.com/pt_PT
dc.subjectGaucher Diseasept_PT
dc.subjectiPSCspt_PT
dc.subjectHuman Geneticspt_PT
dc.subjectDoenças Genéticaspt_PT
dc.titleApplications of iPSCs in Gaucher Diseasept_PT
dc.typeconference object
dspace.entity.typePublication
oaire.awardURIinfo:eu-repo/grantAgreement/FCT/3599-PPCDT/PTDC%2FBIM-MEC%2F4762%2F2014/PT
oaire.citation.conferencePlace(online)pt_PT
oaire.citation.titleEWGGD Virtual Scientific Meeting, 25 May 2020pt_PT
oaire.fundingStream3599-PPCDT
person.familyNameAmaral
person.givenNameOlga
person.identifier.ciencia-id6F1F-54A3-BBB9
person.identifier.orcid0000-0002-3478-2122
person.identifier.scopus-author-id7004054964
project.funder.identifierhttp://doi.org/10.13039/501100001871
project.funder.nameFundação para a Ciência e a Tecnologia
rcaap.rightsclosedAccesspt_PT
rcaap.typeconferenceObjectpt_PT
relation.isAuthorOfPublication8c7fb04a-80c0-4dd7-b3c5-682f6d25662b
relation.isAuthorOfPublication.latestForDiscovery8c7fb04a-80c0-4dd7-b3c5-682f6d25662b
relation.isProjectOfPublication9452b84c-9691-47bb-82ba-75ed40cdfa04
relation.isProjectOfPublication.latestForDiscovery9452b84c-9691-47bb-82ba-75ed40cdfa04

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