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

Painho, Beatriz

http://hdl.handle.net/10362/173894

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Autores

Painho, Beatriz

Orientador(es)

Brito, Catarina

Terasso, Ana Paula

Resumo(s)

"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.(...)"

Palavras-chave

Mucopolysaccharidosis type VII 3D cell culture neural differentiation neurospheroids human induced pluripotent stem cell

URI

http://hdl.handle.net/10362/173894

Editora

Instituto de Tecnologia Química e Biológica António Xavier

Coleções

ITQB: ACM-MA Dissertations

Licença CC

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