EC Number   |
Application |
Reference |
|---|
   2.3.1.78 | analysis |
direct method to assay HGSNAT enzymatic activity using fluorescent BODIPY-glucosamine as a substrate. The assay is specific and potentially applicable for the biochemical diagnosis of mucopolysaccharidosis III type and high-throughput screening for HGSNAT inhibitors |
757528 |
| 2.3.1.78 | analysis |
direct method to assay HGSNAT enzymatic activity using fluorescent BODIPY-glucosamine, i.e. 1-[4,4-difluoro-5,7-dimethyl-4-bora-3a,4a-diaza-s-indacene-3-propionyl-glycylamino]-beta-D-glucosamine, as a substrate |
736715 |
| 2.3.1.78 | medicine |
direct method to assay HGSNAT enzymatic activity using fluorescent BODIPY-glucosamine, i.e. 1-[4,4-difluoro-5,7-dimethyl-4-bora-3a,4a-diaza-s-indacene-3-propionyl-glycylamino]-beta-D-glucosamine, as a substrate. Cultured fibroblasts of mucopolysaccharidosis III type C patients show a profound deficiency of HGSNAT activity as compared to normal controls as well as to mucopolysaccharidosis III type A and D patients known to have normal HGSNAT activity |
736715 |
| 2.3.1.78 | medicine |
identification of HGSNAT mutations in six patients with non-syndromic retinitis pigmentosa. Homozygous HGSNAT variant c.370A>T leads to partial skipping of exon 3. In other patients with retinitis pigmentosa, a complex HGSNAT variant, c.[398G>C; 1843G>A] on one allele, and c.1843G>A on the other allele, is found. HGSNAT activity levels in blood leukocytes of patients are reduced compared with healthy controls, but usually higher than those in mucopolysaccharidosis type IIIC patients. All patients are diagnosed with non-syndromic retinitis pigmentosa and do not exhibit neurological deterioration, or any phenotypic features consistent with in mucopolysaccharidosis type IIIC. Four of the patients are over 60 years old, exceeding by far the life expectancy of mucopolysaccharidosis IIIC patients |
736223 |
| 2.3.1.78 | medicine |
mucopolysaccharidosis type IIIC or Sanfilippo syndrome type C is an autosomal recessive disorder caused by deficiency of heparan sulfate acetyl-CoA:alpha-glucosaminide N-acetyltransferase |
703972, 706441 |
| 2.3.1.78 | medicine |
overview, design and synthesis of substrate and internal standard conjugates as substrates in enzyme assay for confirmation of enzyme deficiency using a combination of affinity chromatography and electrospray ionization mass spectrometry |
487509 |
