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Induced Pluripotent Stem Cells derived cardiomyocytes from a patient with Fabry Disease: a work in process cell model

2020-11-20Documento de conferência Acesso restrito
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dc.contributor.authorDuarte, Ana
dc.contributor.authorRibeiro, Diogo
dc.contributor.authorBragança, Jose
dc.contributor.authorAmaral, Olga
dc.date.accessioned2021-03-13T17:17:59Z
dc.date.available2021-03-13T17:17:59Z
dc.date.issued2020-11-20
dc.descriptionEste trabalho foi parte do projeto referido e está integrado no âmbito do projeto de doutoramento de AJD.pt_PT
dc.descriptionAbstract publicado em:https://cms.cloudguideapp.com/v2/backend/uploads/documents/689_abstract-b_31238917.pdfpt_PT
dc.description.abstractFabry disease (FD) is one of the commonest Lysosomal Storage Disorders (LSDs) and is caused by mutations in the alpha-galactosidase A gene (GLA) from which results a deficient activity of the lysosomal hydrolase alphagalactosidase A (α-Gal A). This deficiency leads to progressive multisystemic accumulation of glycolipids, namely, globotriaosylceramide (Gb3) and globotriaosylsphingosine (lyso-Gb3), in plasma and in a wide range of cells, particularly in the relevant cells affected by the disease like vascular endothelial cells, podocytes, cardiomyocytes, and arterial smooth muscle cells. Taking FD as a cardiac disorder, our aim was to differentiate induced pluripotent stem cells (iPSCs) reprogrammed from FD patients’ fibroblasts into cardiomyocytes, a cellular type usually targeted by this disease. Since only mature cardiomyocytes can fully recapitulate the same disease phenotypes present in vivo and serve as an accurate disease model, we have to surpass the immature state to achieve a complete disease model.pt_PT
dc.description.sponsorshipThis work was financed by FCT (PTDC/BIM-MEC/4762/2014) and carried out at INSA-DGH.pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.urihttp://hdl.handle.net/10400.18/7471
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.subjectHuman Geneticspt_PT
dc.subjectFabry Diseasept_PT
dc.subjectInduced Pluripotent Stem Cellspt_PT
dc.subjectCell Modelspt_PT
dc.subjectCardiomyocytespt_PT
dc.subjectBiologia Molecular e Celularpt_PT
dc.subjectDoenças Genéticaspt_PT
dc.titleInduced Pluripotent Stem Cells derived cardiomyocytes from a patient with Fabry Disease: a work in process cell modelpt_PT
dc.typeconference object
dspace.entity.typePublication
oaire.awardURIinfo:eu-repo/grantAgreement/FCT/3599-PPCDT/PTDC%2FBIM-MEC%2F4762%2F2014/PT
oaire.citation.conferencePlaceLisboa, Portugal (online)pt_PT
oaire.citation.title24ª Reunião Científica da Sociedade Portuguesa de Genética Humana, 20 novembro 2020pt_PT
oaire.fundingStream3599-PPCDT
person.familyNameBorges Duarte
person.familyNameAmaral
person.givenNameAna Joana
person.givenNameOlga
person.identifier.ciencia-id4F11-0EFD-0103
person.identifier.ciencia-id6F1F-54A3-BBB9
person.identifier.orcid0000-0002-6774-4886
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.rightsopenAccesspt_PT
rcaap.typeconferenceObjectpt_PT
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relation.isAuthorOfPublication8c7fb04a-80c0-4dd7-b3c5-682f6d25662b
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relation.isProjectOfPublication9452b84c-9691-47bb-82ba-75ed40cdfa04
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