Ontology highlight
ABSTRACT:
SUBMITTER: Di Natale P
PROVIDER: S-EPMC1138972 | biostudies-literature | 2005 Jun
REPOSITORIES: biostudies-literature
Di Natale Paola P Di Domenico Carmela C Gargiulo Nadia N Castaldo Sigismondo S Gonzalez Y Reyero Enrico E Mithbaokar Pratibha P De Felice Mario M Follenzi Antonia A Naldini Luigi L Villani Guglielmo R D GR
The Biochemical journal 20050601 Pt 2
The Sanfilippo syndrome type B (mucopolysaccharidosis IIIB) is an autosomal recessive disorder due to mutations in the gene encoding NAGLU (alpha-N-acetylglucosaminidase), one of the enzymes required for the degradation of the GAG (glycosaminoglycan) heparan sulphate. No therapy exists for affected patients. We have shown previously the efficacy of lentiviral-NAGLU-mediated gene transfer in correcting in vitro the defect on fibroblasts of patients. In the present study, we tested the therapy in ...[more]