β-己糖胺酶一种变体的特性：“巴黎己糖胺酶”
Characterization of a variant of beta-hexosaminidase: "hexosaminidase Paris".
作者信息
Dreyfus J C, Poenaru L, Vibert M, Ravise N, Boue J
出版信息
Am J Hum Genet. 1977 May;29(3):287-93.
Abstract
A family (father and daughter) was found with a deficiency of hexosaminidase (HEX A and HEX B). Residual HEX A activity was about 30% of usual heterozygotes with very little HEX B activity. Thermostability of HEX A was decreased. No immunological cross reacting material was found for HEX A or B. The mechanism seems to be the production of abnormal, unstable beta subunits, which are still capable of combining with alpha subunits to form functional HEX A.
摘要
发现一个家庭（父亲和女儿）缺乏己糖胺酶（HEX A和HEX B）。残余HEX A活性约为正常杂合子的30%，而HEX B活性极低。HEX A的热稳定性降低。未发现针对HEX A或B的免疫交叉反应物质。其机制似乎是产生异常、不稳定的β亚基，这些亚基仍能够与α亚基结合形成功能性HEX A。
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