Journal
JOURNAL OF BIOLOGICAL CHEMISTRY
Volume 288, Issue 16, Pages 10953-10961Publisher
AMER SOC BIOCHEMISTRY MOLECULAR BIOLOGY INC
DOI: 10.1074/jbc.R112.437038
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Funding
- Matching Program for Innovations in Future Drug Discovery and Medical Care
- Ministry of Education, Culture, Sports, Science and Technology of Japan (MEXT) [24110501]
- Japan Society for the Promotion of Science [23790066]
- Japan Heart Foundation
- Akiyama Life Science Foundation
- Grants-in-Aid for Scientific Research [24110501, 25860037, 23790066] Funding Source: KAKEN
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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.
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