Sanfilippo syndrome (mucopolysaccharidosis type III, MPS III) is a progressive disorder in which patients are characterized by severe central nervous system degeneration together with mild somatic disease. MPS III results from a deficiency in one of the four enzymes involved in the degradation of he
Cloning of the sulphamidase gene and identification of mutations in Sanfilippo A syndrome
β Scribed by Scott, Hamish S.; Blanch, Lianne; Guo, Xiao-Hui; Freeman, Craig; Orsborn, Annette; Baker, Elizabeth; Sutherland, Grant R.; Morris, C. Phillip; Hopwood, John J.
- Book ID
- 109918900
- Publisher
- Nature Publishing Group
- Year
- 1995
- Tongue
- English
- Weight
- 532 KB
- Volume
- 11
- Category
- Article
- ISSN
- 1061-4036
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## Communicated by Elizabeth F. Neufeld Mucopolysaccharidosis type IIIA (MPS IIIA, Sanfilippo A syndrome) is caused by mutations in the N-sulfoglucosamine sulfohydrolase (SGSH) gene and the resulting defective lysosomal degradation of the glycosaminoglycan heparan sulfate. The onset and progressio
## Communicated by JΓΌrgen Horst Mucopolysaccharidosis type IIIA (MPS IIIA or Sanfilippo A disease) is a storage disorder caused by deficiency of the lysosomal enzyme sulfamidase. Mutation screening, using SSCP/heteroduplex analyses on cDNA and genomic DNA fragments, was performed in a group of 42
We have investigated the use of a 4-methylumbelliferone (MU)-derived artificial substrate, MU-a-D-Nsulphoglucosaminide, for the sulphamidase assay in chorionic villi and amniotic fluid cells. In the new two-step enzyme assay, fluorescent MU is released by the successive action of endogenous sulphami
Sanfilippo syndrome type A or mucopolysaccharidosis IIIA (MPS IIIA) is a lysosomal storage disorder caused by the deficiency of the enzyme heparin sulfamidase (EC 3.10.1.1), required for the degradation of the mucopolysaccharide heparan sulfate. Patients develop central nervous system degeneration r