Human genetic disorders caused by mutations in genes encoding biosynthetic enzymes for sulfated glycosaminoglycans.
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ABSTRACT:
SUBMITTER: Mizumoto S
PROVIDER: S-EPMC3630846 | biostudies-literature | 2013 Apr
REPOSITORIES: biostudies-literature
Publications
Human genetic disorders caused by mutations in genes encoding biosynthetic enzymes for sulfated glycosaminoglycans.
Mizumoto Shuji S Ikegawa Shiro S Sugahara Kazuyuki K
The Journal of biological chemistry 20130301 16
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 dermata ...[more]
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