EC Number |
Application |
Reference |
---|
3.5.1.26 | diagnostics |
elevation of plasma aspartylglucosaminidase is a useful marker for the congenital disorders of glycosylation type I, CDG I |
669745 |
3.5.1.26 | diagnostics |
marker for the diagnosis of glycosylation type I (CDG-I) |
682793 |
3.5.1.26 | medicine |
a high dose enzyme replacement therapy with glycosylasparaginase in newborn aspartylglycosaminuria mice is up to 2fold more effective in reducing the amount of the accumulated storage material from the brain tissue than enzyme replacement therapy in adult aspartylglycosaminuria animals |
712651 |
3.5.1.26 | medicine |
deficient AGA activity results in a lysosomal storage disease, aspartylglucosaminuria, resulting in progressive neurodegeneration, most of disease-causing mutations lead to defective molecular maturation of AGA |
654537 |
3.5.1.26 | medicine |
diagnosis of aspartylglycosaminuria in urine samples |
209058 |
3.5.1.26 | medicine |
enzyme deficiency or its absence gives rise to aspartylglycosaminuria, an autosomal recessive inherited disorder that results in the accumulation of glycoasparagines in lysosomes, most common disorder of glycoprotein metabolism |
656376 |
3.5.1.26 | medicine |
enzyme deficiency or its absence gives rise to aspartylglycosaminuria, the most common disorder of glycoprotein metabolism |
654334 |
3.5.1.26 | medicine |
fluorometric assay in blood samples allows specific detection of the enzyme defect in aspartylglycosaminuria patients |
209053 |
3.5.1.26 | medicine |
human glycosylasparaginase is a potential anticancer agent to induce apoptosis in L-asparagine-dependent cancer cells |
712919 |
3.5.1.26 | medicine |
use of codon-optimized AGA may be beneficial for the therapy options in treatment of the lysosomal storage disorder aspartylglucosaminuria (AGU) |
753910 |