open access

https://hdl.handle.net/2115/52882

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

英語

2013-04-19

American Society for Biochemistry and Molecular Biology (ASBMB)

Journal of Biological Chemistry

288

10953-10961

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.

学術雑誌論文

Accepted Manuscript

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.

0021-9258