SGSH Antibody

1. CSF enzyme activity levels for either SGSH (in MPS IIIA subjects) or NAGLU (in MPS IIIB) significantly differed from normal controls. Several other behavioral or functional measures were found to be uninformative in this population, including timed functional motor tests. PMID:27590925
2. 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. PMID:26331342
3. 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 PMID:25592334
4. The crystal structure of glycosylated sulfamidase provides insight into the diverse effects of pathogenic mutations on sulfamidase function in mucopolysaccharidosis type IIIA. PMID:24816101
5. 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. PMID:21550404
6. Processing and secretion of p.Ser298Pro sulfamidase suggests that small amounts of the newly synthesized enzyme are transported to lysosomes PMID:21671382
7. Molecular genetics of mucopolysaccharidosis type IIIA and IIIB: Diagnostic, clinical, and biological implications PMID:11668611
8. Sanfilippo syndrome (subtypes A and B) in Turkey: identification of novel mutations in SGSH and NAGLU PMID:11793481
9. expression studies of four novel mutations PMID:15146460
10. analysis of a nonsense mutation (Y40X) and two de novo missense mutations (E300V; Q307P) in heparan N-sulphatase in a mucopolysaccharidosis IIIA patient [case report] PMID:15902564
11. By assessing the degree of developmental regression over time a group of 7 pts with a slowly progressive course of MPSIIIA were identified. In these 7 pts and in 3 other mildly affected pts missense mutation c.892T>C (p.Ser298Pro) was found on 1 allele PMID:18407553

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HGNC: 10818

UNIGENE: Hs.31074

KEGG: hsa:6448

STRING: 9606.ENSP00000314606

OMIM: 252900