Varon R, Kleijer W J, Thompson E J, d'Azzo A
Hum Genet. 1982;62(1):66-9. doi: 10.1007/BF00295605.
Reduced activity of beta-glucosidase was shown in the cultured skin fibroblasts of four patients with I-cell disease when the enzyme was tested without the use of detergents. In the presence of taurocholate and triton X100 beta-glucosidase activity was normal. This suggested a deficiency of a beta-glucosidase activating factor in I-cell fibroblasts rather than of the enzyme itself. The deficiency of beta-glucosidase activity was corrected to some extent by mixing cell lysates, and more effectively by cocultivation and fusion of I-cell disease and Gaucher fibroblasts. These results present evidence for the presence of a beta-glucosidase-activating factor in normal and Gaucher fibroblasts. In fibroblasts of patients with I-cell disease this activator is probably deficient, as is the case for most lysosomal enzymes.
在对四名I型细胞病患者的培养皮肤成纤维细胞进行测试时，如果不使用去污剂，β-葡萄糖苷酶的活性会降低。在牛磺胆酸盐和曲拉通X100存在的情况下，β-葡萄糖苷酶活性正常。这表明I型细胞成纤维细胞中缺乏β-葡萄糖苷酶激活因子，而非该酶本身缺乏。通过混合细胞裂解物，β-葡萄糖苷酶活性的缺陷得到了一定程度的纠正，而通过I型细胞病成纤维细胞与戈谢病成纤维细胞的共培养和融合，纠正效果更明显。这些结果证明正常和戈谢病成纤维细胞中存在β-葡萄糖苷酶激活因子。在I型细胞病患者的成纤维细胞中，这种激活剂可能缺乏，大多数溶酶体酶的情况也是如此。
