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

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Please use this identifier to cite or link to this item:http://hdl.handle.net/2115/52882

Title: Human Genetic Disorders Caused by Mutations in Genes Encoding Biosynthetic Enzymes for Sulfated Glycosaminoglycans
Authors: Mizumoto, Shuji Browse this author →KAKEN DB
Ikegawa, Shiro Browse this author
Sugahara, Kazuyuki Browse this author →KAKEN DB
Issue Date: 19-Apr-2013
Publisher: American Society for Biochemistry and Molecular Biology (ASBMB)
Journal Title: Journal of Biological Chemistry
Volume: 288
Start Page: 10953
End Page: 10961
Publisher DOI: 10.1074/jbc.R112.437038
Abstract: 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.
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.
Relation: http://www.jbc.org/content/288/16/10953/suppl/DCAuthor_profile
Type: article (author version)
URI: http://hdl.handle.net/2115/52882
Appears in Collections:生命科学院・先端生命科学研究院 (Graduate School of Life Science / Faculty of Advanced Life Science) > 雑誌発表論文等 (Peer-reviewed Journal Articles, etc)

Submitter: 菅原 一幸

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