Brito, CatarinaTerasso, Ana PaulaPainho, Beatriz2024-10-222024-10-222019-12http://hdl.handle.net/10362/173894"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.(...)"engMucopolysaccharidosis type VII3D cell cultureneural differentiationneurospheroidshuman induced pluripotent stem cellmaster thesis