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results demonstrate that a single systemic scAAVrh74-hSGSH delivery mediated efficient restoration of SGSH activity and resulted in a near complete correction of MPS IIIA molecular pathology
The crystal structure of glycosylated sulfamidase provides insight into the diverse effects of pathogenic mutations on sulfamidase function in mucopolysaccharidosis type IIIA.
Pre-symptomatic treatment of progressive neurodegenerative disease (mucopolysaccharidosis type IIIA) via intra-cerebrospinal fluid injection of recombinant human SGSH mediates highly significant reductions in neuropathology in a canine model.
Molecular genetics of mucopolysaccharidosis type IIIA and IIIB: Diagnostic, clinical, and biological implications
Sanfilippo syndrome (subtypes A and B) in Turkey: identification of novel mutations in SGSH and NAGLU (show NAGLU Proteins)
By assessing the degree of developmental regression over time a group of 7 pts (show PTS Proteins) with a slowly progressive course of MPSIIIA were identified. In these 7 pts (show PTS Proteins) and in 3 other mildly affected pts (show PTS Proteins) missense mutation c.892T>C (p.Ser298Pro) was found on 1 allele
This gene encodes one of several enzymes involved in the lysosomal degradation of heparan sulfate. Mutations in this gene are associated with Sanfilippo syndrome A, one type of the lysosomal storage disease mucopolysaccaridosis III, which results from impaired degradation of heparan sulfate. Transcripts of varying sizes have been reported but their biological validity has not been determined.
, heparan sulfate sulfatase
, mucopolysaccharidosis type IIIA
, sulfoglucosamine sulfamidase
, N-sulfoglucosamine sulfohydrolase