GM2-gangliosidosis Hexosaminidase mutations not of the Tay-Sachs type procedure unusual clinical variants
GM2-gangliosidosis Hexosaminidase mutations not of the Tay-Sachs type procedure unusual clinical variants
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GM2-神经节苷脂沉积症己糖胺酶突变不是 Tay-Sachs 型手术的异常临床变异
DOI：
10.1016/0166-2236(83)90008-5
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发表时间：
1983
影响因子：
15.9
通讯作者：
S. Raghavan
中科院分区：
文献类型：
--
作者：
E. Kolodny;S. Raghavan
GM~-神经节苷脂*的酶水解需要己糖~e A 和激活蛋白。影响氨基己糖苷酶 A 和激活蛋白的 ~ 链和 B 链的突变会导致这种糖脂分别在泰萨克斯病、桑德霍夫病和 AB 变体中积累。这些疾病的青少年和成人形式似乎具有稍多的残留酶活性。氨基己糖苷酶A对人工底物和GM-神经节苷脂的活性之间的差异可以通过利用放射性标记的Gu2-神经节苷脂的组织培养技术进行原位评估。影响己糖胺酶 A 活性和 GM2-神经节苷脂水解的多种突变对泰-萨克斯病携带者筛查和产前诊断具有重要意义。未来对GM2-神经节苷脂病的研究可能会集中在多肽链结构的分子缺陷上，最终集中在氨基己糖苷酶的基因序列上。泰-萨克斯病是众所周知的婴儿神经退行性疾病的遗传性原因。在最初的6个月内，孩子的外表是正常的，但已经出现了夸张的惊吓反应。随后，出现发育迟缓，一岁时，自主运动丧失，并出现癫痫发作。失明之后，头变大
The enzymatic hydrolysis of GM~-ganglioside* requires hexos~ e A and an activator protein. Mutations affecting the~ and B-chains of hexosaminidase A and the activator protein cause this glycolipid to accumulate in Tay-Sachs disease, Sandhoff disease and the AB variant, respectively. Juvenile and adult forms of these diseases appear to have slightly greater amounts of residual enzyme activity. Discrepancies between hexosaminidase A activity toward artificial substrates and GM~ ganglioside can be evaluated in situ by a tissue culture technique utilizing radioactively labelled Gu2-ganglioside. The variety of mutations affecting hexosaminidase A activity, and GM2-ganglioside hydrolysis has implications for Tay-Sachs disease carrier screening and prenatatdiagnosis. Future research on the GM2-gangliosidoses is likely to focus on the molecular defects in the polypeptide chain structure and ultimately, the gene sequence of the hexosaminidases.Tay-Sachs disease is a well= known hereditable cause of neurodegenerative disease of infancyt In the first 6 months, the child's physical appearance is normal but there is already an exaggerated startle reaction present. Subsequently, developmental delay occurs, and at the age of I year, voluntary movements are lost and seizures develop. Blindness' follows, the head size increases
AB 型 GM2 神经节苷脂沉积症的新变体。
DOI：
10.1016/0006-291x(81)91285-7
发表时间：
1981
影响因子：
3.1
作者：
Li,SC;Hirabayashi,Y;Li,YT
通讯作者：
Li,YT