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Induced Pluripotent Stem Cells derived cardiomyocytes from a patient with Fabry Disease: a work in process cell model
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Orientador(es)
Resumo(s)
Fabry 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.
Descrição
Este trabalho foi parte do projeto referido e está integrado no âmbito do projeto de doutoramento de AJD.
Abstract publicado em:https://cms.cloudguideapp.com/v2/backend/uploads/documents/689_abstract-b_31238917.pdf
Abstract publicado em:https://cms.cloudguideapp.com/v2/backend/uploads/documents/689_abstract-b_31238917.pdf
Palavras-chave
Human Genetics Fabry Disease Induced Pluripotent Stem Cells Cell Models Cardiomyocytes Biologia Molecular e Celular Doenças Genéticas