Aspartylglycosaminuria (AGU), a severe lysosomal storage disease, is caused by the deficiency of the lysosomal enzyme, glycosylasparaginase (GA), and accumulation of aspartylglucosamine (GlcNAc-Asn) in tissues. Here we show that human leukocyte glycosylasparaginase can correct the metabolic defect in Epstein-Barr virus
Journal of inherited metabolic disease, 29(5), 637-646 (2006-09-01)
Sleep disturbances are common in many progressive metabolic encephalopathies. The possible presence of disturbed sleep-wake behaviour in the lysosomal storage disorder aspartylglucosaminuria, has not been previously studied, however. The sleep-wake behaviour of 81 patients with aspartylglucosaminuria (AGU, age 3-55 years
To show that the head may shrink in adult patients with aspartylglucosaminuria (AGU), a neurodegenerative disease. The head circumference (HC) of 40 adult patients (age at baseline 15 to 47) was measured twice with an interval of 10 years. Of
The kinetics of the acid hydrolysis of 2-acetamido-1-N-(beta-L-aspartyl)-2-deoxy-beta-D-glucopyranosylamine.
R D Marshall
Biochimica et biophysica acta, 192(3), 381-384 (1969-12-30)
The preparative synthesis of a new N4-(2-acetamido-2-deoxy-beta-D-glucopyranosyl)-L-asparagine mimetic 1, starting from 2-amino-1,5-anhydro-2-deoxy-glucitol hydrochloride and Z-Asp-(OH)-OBn is described. This glycosyl-amino acid unit 1 is expected to show higher stabilities towards in vivo conditions. Further, the use of 1 as building block
N-linked glycosylation, modification, and degradation
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