The sulfatase gene family

被引:146
作者
Parenti, G
Meroni, G
Ballabio, A
机构
[1] TELETHON INST GENET & MED,I-20132 MILAN,ITALY
[2] UNIV NAPLES FEDERICO II,DEPT PEDIAT,I-80131 NAPLES,ITALY
关键词
D O I
10.1016/S0959-437X(97)80153-0
中图分类号
Q2 [细胞生物学];
学科分类号
071009 ; 090102 ;
摘要
During the past few years, molecular analyses have provided important insights into the biochemistry and genetics of the sulfatase family of enzymes, identifying the molecular bases of inherited diseases caused by sulfatase deficiencies. New members of the sulfatase gene family have been identified in man and other species using a genomic approach. These include the gene encoding arylsulfatase E, which is involved in X-linked recessive chondrodysplasia punctata, a disorder of cartilage and bone development. Another important breakthrough has been the discovery of the biochemical basis of multiple sulfatase deficiency, an autosomal recessive disorder characterized by a severe reduction of all sulfatase activities. These discoveries, together with the resolution of the crystallographic structure of sulfatases, have improved our understanding of the function and evolution of this fascinating family of enzymes.
引用
收藏
页码:386 / 391
页数:6
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