糖鞘脂水解酶：特性与分子遗传学
Glycosphingolipid hydrolases: properties and molecular genetics.
作者信息
Wan Ho M, Norden A G, Alhadeff J A, O'Brien J S
出版信息
Mol Cell Biochem. 1977 Oct 7;17(3):125-40. doi: 10.1007/BF01730832.
PMID:200837
Abstract
This is a review of the properties and molecular genetics of six lysosomal hydrolases: beta-galactosidase, hexosaminidases A and B, alpha-galactosidase, beta-glucosidase and alpha-fucosidase. Each enzyme is discussed with regards to isoenzymes and substrate specificity, subunit structure, genetic relationship of isoenzymes and genetic variants. The molecular genetics of human diseases caused by deficiencies of each enzyme are discussed.
摘要
本文综述了六种溶酶体水解酶的特性和分子遗传学，这六种酶分别是：β-半乳糖苷酶、己糖胺酶A和B、α-半乳糖苷酶、β-葡萄糖苷酶和α-岩藻糖苷酶。文中针对每种酶，讨论了其同工酶和底物特异性、亚基结构、同工酶的遗传关系以及遗传变异。还讨论了因每种酶缺乏而导致的人类疾病的分子遗传学。
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