高雪氏病：“酸性”葡萄糖苷酶缺乏及体外酶活性的恢复
Gaucher's disease: deficiency of 'acid' -glucosidase and reconstitution of enzyme activity in vitro.
作者信息
Ho M W, O'Brien J S
出版信息
Proc Natl Acad Sci U S A. 1971 Nov;68(11):2810-3. doi: 10.1073/pnas.68.11.2810.
Abstract
The spleen from a patient with adult Gaucher's disease was shown to be deficient in a beta-glucosidase (EC 3.2.1.21) isoenzyme that has optimal activity at pH 4.0-4.3, and is stimulated by 0.02% Triton X-100. A mixture of spleen homogenates from a control and from the patient contained beta-glucosidase activity equivalent to 2-3 times the theoretical expected activity. The increase in enzyme activity occurred at pH 4.0-4.3; the magnitude of the increase was proportional to the amount of each homogenate added. Two factors, one called factor P from the patient's spleen, the other called factor C from the control spleen, were responsible for a reconstitution of beta-glucosidase activity in vitro. Factor P is tentatively identified as an acid glycoprotein.
摘要
成年戈谢病患者的脾脏被证明缺乏一种β-葡萄糖苷酶（EC 3.2.1.21）同工酶，该同工酶在pH 4.0 - 4.3时具有最佳活性，并受到0.02% Triton X - 100的刺激。来自对照和患者的脾脏匀浆混合物中所含的β-葡萄糖苷酶活性相当于理论预期活性的2至3倍。酶活性的增加发生在pH 4.0 - 4.3；增加的幅度与添加的每种匀浆的量成正比。两个因素，一个来自患者脾脏的称为因子P，另一个来自对照脾脏的称为因子C，负责体外β-葡萄糖苷酶活性的重建。因子P初步鉴定为一种酸性糖蛋白。
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