Natural Substrates | Organism | Comment (Nat. Sub.) | Natural Products | Comment (Nat. Pro.) | Rev. | Reac. |
---|---|---|---|---|---|---|
additional information | Homo sapiens | reduced activity of sulfamidase results in intracellular accumulation of heparan sulfate, with the brain the primary site of pathology, e.g. in mucopolysaccharidosis type IIIA, or Sanfilippo syndrome, an inherited neurodegenerative lysosomal storage disorder, progressive loss of learned skills, sleep disturbance and behavioural problems occur. A potential therapy method is the repeated injection of the enzyme into cerebrospinal fluid via cisterna magna leading to a reduction of the number of lysosomal storage inclusions in the brain with a significant decrease in the immunohistochemical staining of a lysosomal membrane marker, and to reduced numbers of activated isolectin-B4-positive microglia and GFAP-positive astrocytes in some brain regions, phenotype, mouse model, overview | ? | - |
? |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
- |
- |
Substrates | Comment Substrates | Organism | Products | Comment (Products) | Rev. | Reac. |
---|---|---|---|---|---|---|
additional information | reduced activity of sulfamidase results in intracellular accumulation of heparan sulfate, with the brain the primary site of pathology, e.g. in mucopolysaccharidosis type IIIA, or Sanfilippo syndrome, an inherited neurodegenerative lysosomal storage disorder, progressive loss of learned skills, sleep disturbance and behavioural problems occur. A potential therapy method is the repeated injection of the enzyme into cerebrospinal fluid via cisterna magna leading to a reduction of the number of lysosomal storage inclusions in the brain with a significant decrease in the immunohistochemical staining of a lysosomal membrane marker, and to reduced numbers of activated isolectin-B4-positive microglia and GFAP-positive astrocytes in some brain regions, phenotype, mouse model, overview | Homo sapiens | ? | - |
? |
Synonyms | Comment | Organism |
---|---|---|
SGSH | - |
Homo sapiens |
sulphamidase | - |
Homo sapiens |