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Literature summary for 3.10.1.1 extracted from

  • Fraldi, A.; Hemsley, K.; Crawley, A.; Lombardi, A.; Lau, A.; Sutherland, L.; Auricchio, A.; Ballabio, A.; Hopwood, J.J.
    Functional correction of CNS lesions in an MPS-IIIA mouse model by intracerebral AAV-mediated delivery of sulfamidase and SUMF1 genes (2007), Hum. Mol. Genet., 16, 2693-2702.
    View publication on PubMed
Search for more literature for 3.10.1.1

Activating Compound

Activating Compound Comment Organism Structure
SUMF1 i.e. sulfatase modifying factor 1, exhibits an enhancing effect on sulfatase activity when coexpressed with sulfatases, overview Mus musculus

Application

Application Comment Organism
pharmacology early treatment of CNS lesions by adeno-associated virus-mediated intraventricular injection of both SGSH and SUMF1 genes may represent a feasible therapy for MPS-IIIA Mus musculus

Cloned(Commentary)

Cloned (Comment) Organism
expression of GFP-tagged enzyme in mouse brain via injection into brain of MPS-IIIA mice, expression anaylsis, co-expression with sulfatase modifying factor 1, overview Mus musculus

Protein Variants

Protein Variants Comment Organism
additional information co-delivery of SUMF1 and SGSH, via an AAV2/5-CMV-SGSH-IRES-SUMF1 vector, results in a synergistic increase in SGSH activity, both in primary neural cells and in murine brain, in mucopolysaccharidosis type IIIA, effects on phenotype, overview Mus musculus

Localization

Localization Comment Organism GeneOntology No. Textmining
lysosome
-
 Mus musculus 5764
-

Natural Substrates/ Products (Substrates)

Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
additional information Mus musculus congenital deficiency of sulfamidase leads to mucopolysaccharidosis type IIIA or Sanfilippo syndrome, a lysosomal storage disorder, with consequent accumulation of partially degraded heparan sulfate in lysosomes and the central nervous system as the predominant site of tissue damage, overview ?
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 ?

Organism

Organism UniProt Comment Textmining
Mus musculus
-
-
-

Source Tissue

Source Tissue Comment Organism Textmining
brain
-
 Mus musculus
-
neuronal cell primary, cultured Mus musculus
-

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
additional information congenital deficiency of sulfamidase leads to mucopolysaccharidosis type IIIA or Sanfilippo syndrome, a lysosomal storage disorder, with consequent accumulation of partially degraded heparan sulfate in lysosomes and the central nervous system as the predominant site of tissue damage, overview Mus musculus ?
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 ?

Synonyms

Synonyms Comment Organism
SGSH
-
 Mus musculus
sulfamidase
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 Mus musculus