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Title
  • Human Genetic Disorders Caused by Mutations in Genes Encoding Biosynthetic Enzymes for Sulfated Glycosaminoglycans
Creator

Mizumoto, Shuji

Ikegawa, Shiro

Sugahara, Kazuyuki

Rights
    • This research was originally published in Journal of Biological Chemistry. Mizumoto, Shuji; Ikegawa, Shiro; Sugahara, Kazuyuki. Human Genetic Disorders Caused by Mutations in Genes Encoding Biosynthetic Enzymes for Sulfated Glycosaminoglycans. 2013. vol.288 pp.10953-10961. © the American Society for Biochemistry and Molecular Biology.
Subject
  • NDC 460
Description
Other
  • A number of genetic disorders are caused by mutations in the genes encoding glycosyltransferases and sulfotransferases, enzymes responsible for the synthesis of sulfated glycosaminoglycan (GAG) side chains of proteoglycans, including chondroitin sulfate, dermatan sulfate, and heparan sulfate. The phenotypes of these genetic disorders reflect disturbances in crucial biological functions of GAGs in human. Recent studies have revealed that mutations in genes encoding chondroitin sulfate and dermatan sulfate biosynthetic enzymes cause various disorders of connective tissues. This minireview focuses on growing glycobiological studies of recently described genetic diseases caused by disturbances in biosynthetic enzymes for sulfated GAGs.
PublisherAmerican Society for Biochemistry and Molecular Biology (ASBMB)
Date Issued 2013-04-19
Languageeng
NIItypejournal article
VersiontypeAM
Identifier URI http://hdl.handle.net/2115/52882
Relation
  • isIdenticalTo DOI https://doi.org/10.1074/jbc.R112.437038
Journal
    • ISSN 0021-9258
    • Journal of Biological Chemistry
    288, 10953-10961
File
Oaidate2019-10-09T00:14:31Z