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タイトル
  • Human Genetic Disorders Caused by Mutations in Genes Encoding Biosynthetic Enzymes for Sulfated Glycosaminoglycans
作成者

Mizumoto, Shuji

Ikegawa, Shiro

Sugahara, Kazuyuki

権利情報
    • 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.
主題
  • NDC 460
内容注記
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.
出版者American Society for Biochemistry and Molecular Biology (ASBMB)
日付 Issued 2013-04-19
言語eng
資源タイプjournal article
出版タイプAM
資源識別子 URI http://hdl.handle.net/2115/52882
関連
  • isIdenticalTo DOI https://doi.org/10.1074/jbc.R112.437038
収録誌情報
    • ISSN 0021-9258
    • Journal of Biological Chemistry
    288, 10953-10961
ファイル
コンテンツ更新日時2019-10-09T00:14:31Z