2024-03-29T15:21:36Zhttps://eprints.lib.hokudai.ac.jp/dspace-oai/requestoai:eprints.lib.hokudai.ac.jp:2115/528822022-11-17T02:08:08Zhdl_2115_20055hdl_2115_8527Human Genetic Disorders Caused by Mutations in Genes Encoding Biosynthetic Enzymes for Sulfated GlycosaminoglycansMizumoto, ShujiIkegawa, ShiroSugahara, Kazuyuki460A 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.American Society for Biochemistry and Molecular Biology (ASBMB)Journal Articleapplication/pdfapplication/pdfhttp://hdl.handle.net/2115/52882https://eprints.lib.hokudai.ac.jp/dspace/bitstream/2115/52882/2/Author%20Profile%20JBC288_10953.pdfhttps://eprints.lib.hokudai.ac.jp/dspace/bitstream/2115/52882/3/HUSCAP%20minireview%202nd%20revision%20submitted%20130224.pdf0021-9258Journal of Biological Chemistry28810953109612013-04-19enginfo:doi/10.1074/jbc.R112.437038This 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.author