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

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.(...)"