犬GM1神经节苷脂贮积症：残余肝脏酸性β-半乳糖苷酶的特征
Dog GM1 gangliosidosis: characterization of the residual liver acid beta-galactosidase.
作者信息
Rittmann L S, Tennant L L, O'Brien J S
出版信息
Am J Hum Genet. 1980 Nov;32(6):880-9.
Abstract
The residual liver acid beta-galactosidase activity from the first documented case of GM1 gangliosidosis in dogs was partially purified and characterized with respect to kinetic properties, thermostability, isoelectric point, molecular weight, and antigenicity. The GM1 dog liver beta-galactosidase appears to be identical with the normal dog liver enzyme in all properties examined. The canine disease is strikingly different from the human disease in the amount of enzyme that is present in the tissue. Unlike the human disease, in which normal amounts of catalytically defective beta-galactosidase are present, in dog GM1 gangliosidosis, only 1% of normal beta-galactosidase protein is detectable.
摘要
从首例有记录的犬GM1神经节苷脂贮积症病例中获取的残余肝脏酸性β-半乳糖苷酶活性得到了部分纯化，并对其动力学性质、热稳定性、等电点、分子量和抗原性进行了表征。在所检测的所有特性方面，犬GM1肝脏β-半乳糖苷酶似乎与正常犬肝脏酶相同。在组织中存在的酶量方面，犬类疾病与人类疾病有着显著差异。与人类疾病不同，人类疾病中存在正常量的催化缺陷型β-半乳糖苷酶，而在犬GM1神经节苷脂贮积症中，仅可检测到正常β-半乳糖苷酶蛋白的1%。
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