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CSF (show CSF2 Antibodies) enzyme activity levels for either SGSH (in MPS IIIA subjects) or NAGLU (show NAGLU Antibodies) (in MPS IIIB (show NAGLU Antibodies)) significantly differed from normal controls. Several other behavioral or functional measures were found to be uninformative in this population, including timed functional motor tests.
We have identified ocular features of a patient with Sanfilippo syndrome type IIIA harboring a novel SGHS mutation that were not previously known to occur in this disease - namely, a progressive retinopathy with distinctive features, cystic macular changes responsive to carbonic anhydrase inhibitors, and complex electroretinographic abnormalities consistent with postreceptoral dysfunction.
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 Antibodies)
By assessing the degree of developmental regression over time a group of 7 pts (show PTS Antibodies) with a slowly progressive course of MPSIIIA were identified. In these 7 pts (show PTS Antibodies) and in 3 other mildly affected pts (show PTS Antibodies) 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