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Title
  • en Pathophysiological Significance of Dermatan Sulfate Proteoglycans Revealed by Human Genetic Disorders
Creator
    • en Mizumoto, Shuji
    • en Kosho, Tomoki
    • en Yamada, Shuhei
Accessrights open access
Rights
Subject
  • Other en biglycan
  • Other en carbohydrate sulfotransferase 14
  • Other en decorin
  • Other en chondroitin sulfate
  • Other en dermatan sulfate
  • Other en dermatan sulfate epimerase
  • Other en dermatan 4-O-sulfotransferase
  • Other en Ehlers-Danlos syndrome
  • Other en glycosaminoglycan
  • Other en proteoglycan
  • Other en spondyloepimetaphyseal dysplasia
  • NDC 460
Description
  • Abstract en The indispensable roles of dermatan sulfate-proteoglycans (DS-PGs) have been demonstrated in various biological events including construction of the extracellular matrix and cell signaling through interactions with collagen and transforming growth factor- , respectively. Defects in the core proteins of DS-PGs such as decorin and biglycan cause congenital stromal dystrophy of the cornea, spondyloepimetaphyseal dysplasia, and Meester-Loeys syndrome. Furthermore, mutations in human genes encoding the glycosyltransferases, epimerases, and sulfotransferases responsible for the biosynthesis of DS chains cause connective tissue disorders including Ehlers-Danlos syndrome and spondyloepimetaphyseal dysplasia with joint laxity characterized by skin hyperextensibility, joint hypermobility, and tissue fragility, and by severe skeletal disorders such as kyphoscoliosis, short trunk, dislocation, and joint laxity. Glycobiological approaches revealed that mutations in DS-biosynthetic enzymes cause reductions in enzymatic activities and in the amount of synthesized DS and also disrupt the formation of collagen bundles. This review focused on the growing number of glycobiological studies on recently reported genetic diseases caused by defects in the biosynthesis of DS and DS-PGs.
Publisher en MDPI
Date
    Issued2017-06
Language
  • eng
Resource Type journal article
Version Type VoR
Identifier HDL http://hdl.handle.net/2115/67053
Relation
  • isIdenticalTo DOI https://doi.org/10.3390/ph10020034
Journal
    • PISSN 1424-8247
      • en Pharmaceuticals
      • Volume Number10 Issue Number2 Page Start34
File
Oaidate 2023-07-26