Property Summary

NCBI Gene PubMed Count 31
Grant Count 7
Funding $1,406,062.5
PubMed Score 143.36
PubTator Score 81.37

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (6)

Synonym

Accession P51688 A8K5E2
Symbols HSS
SFMD
MPS3A

Gene

PANTHER Protein Class (1)

PDB

4MHX   4MIV  

Gene RIF (10)

PMID Text
25592334 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
24816101 The crystal structure of glycosylated sulfamidase provides insight into the diverse effects of pathogenic mutations on sulfamidase function in mucopolysaccharidosis type IIIA.
21671382 Processing and secretion of p.Ser298Pro sulfamidase suggests that small amounts of the newly synthesized enzyme are transported to lysosomes
21550404 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.
20237496 Observational study of gene-disease association. (HuGE Navigator)
18407553 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
15902564 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]
15146460 expression studies of four novel mutations
11793481 Sanfilippo syndrome (subtypes A and B) in Turkey: identification of novel mutations in SGSH and NAGLU
11668611 Molecular genetics of mucopolysaccharidosis type IIIA and IIIB: Diagnostic, clinical, and biological implications

AA Sequence

MSCPVPACCALLLVLGLCRARPRNALLLLADDGGFESGAYNNSAIATPHLDALARRSLLFRNAFTSVSSC      1 - 70
SPSRASLLTGLPQHQNGMYGLHQDVHHFNSFDKVRSLPLLLSQAGVRTGIIGKKHVGPETVYPFDFAYTE     71 - 140
ENGSVLQVGRNITRIKLLVRKFLQTQDDRPFFLYVAFHDPHRCGHSQPQYGTFCEKFGNGESGMGRIPDW    141 - 210
TPQAYDPLDVLVPYFVPNTPAARADLAAQYTTVGRMDQGVGLVLQELRDAGVLNDTLVIFTSDNGIPFPS    211 - 280
GRTNLYWPGTAEPLLVSSPEHPKRWGQVSEAYVSLLDLTPTILDWFSIPYPSYAIFGSKTIHLTGRSLLP    281 - 350
ALEAEPLWATVFGSQSHHEVTMSYPMRSVQHRHFRLVHNLNFKMPFPIDQDFYVSPTFQDLLNRTTAGQP    351 - 420
TGWYKDLRHYYYRARWELYDRSRDPHETQNLATDPRFAQLLEMLRDQLAKWQWETHDPWVCAPDGVLEEK    421 - 490
LSPQCQPLHNEL                                                              491 - 502
//

Text Mined References (38)

PMID Year Title
25592334 2015 Broad functional correction of molecular impairments by systemic delivery of scAAVrh74-hSGSH gene delivery in MPS IIIA mice.
24816101 2014 Structure of sulfamidase provides insight into the molecular pathology of mucopolysaccharidosis IIIA.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23533145 2013 In-depth proteomic analyses of exosomes isolated from expressed prostatic secretions in urine.
23376485 2013 Proteomic analysis of podocyte exosome-enriched fraction from normal human urine.
21671382 2011 Residual activity and proteasomal degradation of p.Ser298Pro sulfamidase identified in patients with a mild clinical phenotype of Sanfilippo A syndrome.
21550404 2011 Enzyme replacement reduces neuropathology in MPS IIIA dogs.
20237496 2010 New genetic associations detected in a host response study to hepatitis B vaccine.
19159218 2009 Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry.
18407553 2008 The mutation p.Ser298Pro in the sulphamidase gene (SGSH) is associated with a slowly progressive clinical phenotype in mucopolysaccharidosis type IIIA (Sanfilippo A syndrome).
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