Brain transplantation of genetically corrected Sanfilippo type B neural stem cells induces partial cross-correction of the disease.

ABSTRACT: Sanfilippo syndrome type B (mucopolysaccharidosis type IIIB) is a recessive genetic disorder that severely affects the brain due to a deficiency in the enzyme α-N-acetylglucosaminidase (NAGLU), leading to intra-lysosomal accumulation of partially degraded heparan sulfate. There are no effective treatments for this disorder. In this project, we carried out an ex vivo correction of neural stem cells derived from Naglu ^-/- mice (iNSCs) induced pluripotent stem cells (iPSC) using a modified enzyme in which human NAGLU is fused to an insulin-like growth factor II receptor binding peptide in order to improve enzyme uptake. After brain transplantation of corrected iNSCs into Naglu ^-/- mice and long-term evaluation of their impact, we

SUBMITTER: Pearse Y 

PROVIDER: S-EPMC9672419 | biostudies-literature | 2022 Dec

REPOSITORIES: biostudies-literature