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Exploring induced pluripotent stem cell derived 3D neural cultures to model Mucopolysaccharidosis type VII

dc.contributor.advisorBrito, Catarina
dc.contributor.advisorTerasso, Ana Paula
dc.contributor.authorPainho, Beatriz
dc.date.accessioned2024-10-22T17:19:18Z
dc.date.available2024-10-22T17:19:18Z
dc.date.issued2019-12
dc.description.abstract"Mucopolysaccharidosis type VII (MPSVII) is an ultra-rare lysosomal storage disease, occurring due to mutations in the gene encoding β-glucuronidase, one of the enzymes responsible for the step-wise degradation of glycosaminoglycans. Enzyme deficiency leads to intralysosomal accumulation of partially degraded glycosaminoglycans in many tissues, including the brain. Currently, the link between endosomal-lysosomal system dysfunction and neurological symptoms remains unclear.(...)"pt_PT
dc.description.versionN/Apt_PT
dc.identifier.urihttp://hdl.handle.net/10362/173894
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherInstituto de Tecnologia Química e Biológica António Xavierpt_PT
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/pt_PT
dc.subjectMucopolysaccharidosis type VIIpt_PT
dc.subject3D cell culturept_PT
dc.subjectneural differentiationpt_PT
dc.subjectneurospheroidspt_PT
dc.subjecthuman induced pluripotent stem cellpt_PT
dc.titleExploring induced pluripotent stem cell derived 3D neural cultures to model Mucopolysaccharidosis type VIIpt_PT
dc.typemaster thesis
dspace.entity.typePublication
oaire.citation.conferencePlaceOeiras, Portugalpt_PT
person.familyNameCarones Painho
person.givenNameBeatriz Alexandra
person.identifier.ciencia-id3814-CFE6-6237
rcaap.rightsopenAccesspt_PT
rcaap.typemasterThesispt_PT
relation.isAuthorOfPublication6ce70c1e-b69b-4a90-aacc-b5b46ff9698f
relation.isAuthorOfPublication.latestForDiscovery6ce70c1e-b69b-4a90-aacc-b5b46ff9698f

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