Database of the clinical phenotypes, genotypes and mutant arylsulfatase B structures in mucopolysaccharidosis type VI

被引：0
|
作者：
Seiji Saito
Kazuki Ohno
Masakazu Sekijima
Toshihiro Suzuki
Hitoshi Sakuraba
机构：
[1] Hokkaido Information University,Department of Medical Management and Informatics
[2] NPO for the Promotion of Research on Intellectual Property Tokyo,Department of Analytical Biochemistry
[3] Global Scientific Information and Computing Center,Department of Clinical Genetics
[4] Tokyo Institute of Technology,undefined
[5] Meiji Pharmaceutical University,undefined
[6] Meiji Pharmaceutical University,undefined
[7] 6Current address: Drug Discovery Research,undefined
[8] Astellas Pharma Inc.,undefined
[9] Tsukuba,undefined
[10] Ibaraki,undefined
[11] Japan.,undefined
来源：
Journal of Human Genetics | 2012年 / 57卷
关键词：
amino acid substitution; arylsulfatase B; database; mucopolysaccharidosis type VI; protein structure;
D O I：
暂无
中图分类号：
学科分类号：
摘要：
Mucopolysaccharidosis type VI (MPS VI) is a genetic disorder caused by a deficiency of arylsulfatase B (ARSB). In our previous study, we investigated the structural changes in ARSB caused by amino acid substitutions associated with MPS VI, and revealed that such structural changes in ARSB were correlated with the clinical phenotypes. To the best of our knowledge, there is no database containing the structures of mutant ARSBs. Here, we built a database of clinical phenotypes, genotypes and structures of mutant ARSBs (http://mps6-database.org). This database can be accessed via the Internet, and is user friendly being equipped with powerful computational tools. This database will be useful for a better understanding of MPS VI.
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页码：280 / 282
页数：2
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