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Hokkaido University Collection of Scholarly and Academic Papers >
Graduate School of Life Science / Faculty of Advanced Life Science >
Peer-reviewed Journal Articles, etc >
Human Genetic Disorders Caused by Mutations in Genes Encoding Biosynthetic Enzymes for Sulfated Glycosaminoglycans
| 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)
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Submitter: 菅原 一幸
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