Comparison of the residual acidic α-d-mannosidase in three cases of mannosidosis
作者： Lynda Burditt , Kokila Chotai , Dicky Halley , Bryan Winchester
DOI: 10.1016/0009-8981(80)90197-7
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摘要: Abstract Residual acidic α- d -mannosidase, corresponding to 5–16% of the activity in controls, was present cultured fibroblasts from three unrelated patients with mannosidosis. The residual all cases had a higher value K m and marked lower thermal stability than normal enzyme activated rather inhibited by Co 2+ . A proportion α-mannosidase B, separable on DEAE-cellulose, activity. Acidic α-D-mannosidase that binds does not bind concanavalin were cells but both deficient failed cross-react antiserum raised against no enzymically inactive cross-reacting material detected. These results suggest genetic defect is mutation structural gene for -mannosidase. However, it possible distinguish mutations these biochemical techniques employed. Differences between mutant other provide further evidence heterogeneity
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