Mutated 3-glucosidase

Alpha-1-antitrypsin mutations are associated with early-onset emphysema and liver disease that results in early death (50). The Z-variant of the disease is the most common and is present in over 95% of cases. This variant has been shown to be rescued in vitro by treatment with proteasome inhibitors (50). Several chemical and pharmacological chaperones have also been shown to correct the secretion of the mutant protein, which include the glucosidase inhibitor castanospermine, as well as the mannosidase inhibitors kifunensine (Fig. 2b)... 

Alfonso P, Pampin S, Estrada J, Rodriguez-Rey JC, Giraldo P, 40. Sancho J, Pocovi M. Miglustat (NB-DNJ) works as a chaperone for mutated acid beta-glucosidase in cells transfected... 

Mutation of the nucleophilic glutamate to cysteine in a GH 1 (3-glucosidase from Agrobacterium sp. (Abg) slowed the formation of the glycosyl-enzyme... 

A). Yet another DNAhelicase, a subunit of transcription factor II (TFIIh, p. 1628), is defective in tri-chothiodystrophy (TTD, see Box 27-A). Another gene which helps to prevent aging is KLOTHO. First identified in mice, it encodes a transmembrane protein that has sequence similarities to P-glucosidases. Some mice with mutations in the tumor suppressor p53 (Box 11-D) have enhanced resistance to tumors but age rapidly. ... 

Hommalai, G., Withers, S.G., Chuenchor, W., Cairns, J.R., Svasti, J., 2007. Enzymatic synthesis of cello-oligosaccharides by mutated rice p-glucosidases. Glycobiology 17, 744—753. 

A mutation in the post-translational modification of the glycoside hydrolases of Dictyostelium discoideum affected the a-D-glucosidase and jS-D-glucosidases 1 and 2 molecules (see p. 418 ref. manase). ... 

FIGURE 1. Effects of glycosidases on the mutagenicities of flavonol glycosides. Rutin (a) and astragalin (b) were preincubated with hesperidinase ( ), jS-glucosidase (O), or no addition (A), and the mutation assay was then carried out by the preincubation method with S-9 Mix and strain TA98. 

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