title: Human genetic disorders caused by mutations in genes encoding biosynthetic enzymes for sulfated glycosaminoglycans.
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.
authors: Laboratory of Proteoglycan Signaling and Therapeutics, Graduate School of Life Science, Hokkaido University, Sapporo 001-0021 Japan.
authors: Shuji
authors: S
authors: Mizumoto
authors: Shiro
authors: S
authors: Ikegawa
authors: Kazuyuki
authors: K
authors: Sugahara
mesh_terms: D002809:Chondroitin Sulfates / Q000096:biosynthesis / Q000235:genetics*; D003240:Connective Tissue Diseases / Q000201:enzymology / Q000235:genetics; D003871:Dermatan Sulfate / Q000096:biosynthesis / Q000235:genetics*; D006025:Glycosaminoglycans / Q000096:biosynthesis / Q000235:genetics*; D006497:Heparan Sulfate / Q000096:biosynthesis / Q000235:genetics*; D006801:Humans; D008661:Metabolism, Inborn Errors / Q000201:enzymology / Q000235:genetics
chemical_list: D002809:Chondroitin Sulfates; D003871:Dermatan Sulfate; D006025:Glycosaminoglycans; D006497:Heparan Sulfate; C013786:A73025