Romeo G, D'Urso M, Pisacane A, Blum E, De Falco A, Ruffilli A
Biochem Genet. 1975 Oct;13(9-10):615-28. doi: 10.1007/BF00484919.
The alpha-galactosidase A activity from fibroblasts of five Fabry patients and five controls has been separated from alpha-galactosidase B through small DEAE-cellulose columns and in some experiments by treatment of the fibroblast extracts with Sepharose coupled to anti-alpha-galactosidase B antibodies. By these independent methods, it has been shown that there is a residual alpha-galactosidase A in Fabry's disease, which is immunologically similar to the alpha-galactosidase A from the controls. The alpha-galactosidase A from all of the patients and controls has the same apparent Km value for the synthetic substrate 4-methylumbelliferyl-alpha-galactosidase A, while the fifth has a thermolabile enzyme like that from the controls. The amount of immunologically active alpha-galactosidase A seems to be decreased in the patients tested.
通过小型二乙氨基乙基纤维素柱，并在一些实验中用偶联抗α-半乳糖苷酶B抗体的琼脂糖处理成纤维细胞提取物，将五名法布里病患者和五名对照的成纤维细胞中的α-半乳糖苷酶A活性与α-半乳糖苷酶B分离。通过这些独立的方法已表明，法布里病中存在残留的α-半乳糖苷酶A，其在免疫学上与对照的α-半乳糖苷酶A相似。所有患者和对照的α-半乳糖苷酶A对合成底物4-甲基伞形酮基-α-半乳糖苷A具有相同的表观米氏常数，而第五个具有与对照类似的热不稳定酶。在所测试的患者中，免疫活性α-半乳糖苷酶A的量似乎减少了。
