| タイトル |
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en
Pathophysiological Significance of Dermatan Sulfate Proteoglycans Revealed by Human Genetic Disorders
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| 作成者 |
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| アクセス権 |
open access |
| 権利情報 |
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| 主題 |
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Other
en
biglycan
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Other
en
carbohydrate sulfotransferase 14
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Other
en
decorin
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Other
en
chondroitin sulfate
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Other
en
dermatan sulfate
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Other
en
dermatan sulfate epimerase
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Other
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dermatan 4-O-sulfotransferase
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Other
en
Ehlers-Danlos syndrome
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Other
en
glycosaminoglycan
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Other
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proteoglycan
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Other
en
spondyloepimetaphyseal dysplasia
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NDC
460
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| 内容注記 |
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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.
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| 出版者 |
en
MDPI
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| 日付 |
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| 言語 |
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| 資源タイプ |
journal article |
| 出版タイプ |
VoR |
| 資源識別子 |
HDL
http://hdl.handle.net/2115/67053
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| 関連 |
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isIdenticalTo
DOI
https://doi.org/10.3390/ph10020034
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| 収録誌情報 |
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en
Pharmaceuticals
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巻10
号2
開始ページ34
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| ファイル |
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| コンテンツ更新日時 |
2023-07-26 |
