Kudoh T
Tohoku J Exp Med. 1978 May;125(1):93-101. doi: 10.1620/tjem.125.93.
The activity of GM1 beta-galactosidase in the brain and liver of patients with GM1-gangliosidosis was assayed using GM1-ganglioside tritiated in the terminal galactose. In the cases of GM1-gangliosidosis Types 1 and 2A the activity was less than 0.5% of the control. In the liver of GM1-gangliosidosis Type 2B the activity was observed to be much higher than that of Types 1 and 2A. On Sephadex G-150 gel filtration, three active fractions (I, II and III) for 4-methylumbelliferyl beta-galactopyranoside (4MU) and two active fractions (I and II) for GM1-ganglioside were obtained in the control liver. There was no active fraction for GM1-ganglioside in spite of the preserved fraction I for 4MU in the liver of GM1-gangliosidosis Type 1 or Type 2A. In any of the three cases fraction II for both 4MU and G71-ganglioside was not detected.
使用在末端半乳糖中氚标记的GM1神经节苷脂来测定GM1神经节苷脂沉积症患者脑和肝脏中GM1β-半乳糖苷酶的活性。在1型和2A型GM1神经节苷脂沉积症病例中，该活性低于对照的0.5%。在2B型GM1神经节苷脂沉积症的肝脏中，观察到该活性远高于1型和2A型。在对照肝脏中，通过Sephadex G - 150凝胶过滤，获得了针对4 - 甲基伞形酮基β - 吡喃半乳糖苷（4MU）的三个活性级分（I、II和III）以及针对GM1神经节苷脂的两个活性级分（I和II）。在1型或2A型GM1神经节苷脂沉积症的肝脏中，尽管保留了针对4MU的I级分，但未检测到针对GM1神经节苷脂的活性级分。在这三种情况中的任何一种中，均未检测到针对4MU和G71神经节苷脂的II级分。
