Ontology highlight
ABSTRACT:
SUBMITTER: Haurigot V
PROVIDER: S-EPMC3726158 | biostudies-literature | 2013 Aug
REPOSITORIES: biostudies-literature
Haurigot Virginia V Marcó Sara S Ribera Albert A Garcia Miguel M Ruzo Albert A Villacampa Pilar P Ayuso Eduard E Añor Sònia S Andaluz Anna A Pineda Mercedes M García-Fructuoso Gemma G Molas Maria M Maggioni Luca L Muñoz Sergio S Motas Sandra S Ruberte Jesús J Mingozzi Federico F Pumarola Martí M Bosch Fatima F
The Journal of clinical investigation 20130701 8
For most lysosomal storage diseases (LSDs) affecting the CNS, there is currently no cure. The BBB, which limits the bioavailability of drugs administered systemically, and the short half-life of lysosomal enzymes, hamper the development of effective therapies. Mucopolysaccharidosis type IIIA (MPS IIIA) is an autosomic recessive LSD caused by a deficiency in sulfamidase, a sulfatase involved in the stepwise degradation of glycosaminoglycan (GAG) heparan sulfate. Here, we demonstrate that intracer ...[more]