グリコサミノグリカンの生合成異常による遺伝性疾患

DOI DOI Web Site Web Site Web Site ほか1件をすべて表示 一部だけ表示 被引用文献1件 参考文献3件 オープンアクセス
  • Mizumoto Shuji
    Department of Pathobiochemistry, Faculty of Pharmacy, Meijo University
  • Yamada Shuhei
    Department of Pathobiochemistry, Faculty of Pharmacy, Meijo University

書誌事項

タイトル別名
  • Congenital Disorders Caused by Defects in Anabolism of Glycosaminoglycans
  • グリコサミノグリカン ノ セイゴウセイ イジョウ ニ ヨル イデンセイ シッカン

この論文をさがす

抄録

<p>Glycosaminoglycans (GAGs), including chondroitin sulfate, dermatan sulfate, heparan sulfate, heparin, and hyaluronan, are important for various biological processes including construction of the extracellular matrix, tissue development, and cell signaling through interaction with extracellular matrix components, morphogens, and growth factors. GAGs are synthesized by various glycosyltransferases and sulfotransferases using donor substrates including uridine diphosphate (UDP)-sugars and 3′-phosphoadenosine 5′-phosphosulfate, respectively. GAGs as well as UDP and adenosine-3′, 5′-bisphosphate, which are reaction products, are mainly catabolized in lysosomes and the Golgi apparatus. Disturbances in the anabolism and catabolism of GAGs cause human genetic diseases such as connective tissue disorders and mucopolysaccharidoses, respectively. Furthermore, disturbances of catabolism of UDP and adenosine-3′, 5′-bisphosphate also cause Desbuquois dysplasia type 1 and chondrodysplasia with joint dislocations, respectively. Effective therapy for genetic disorders caused by defects in the biosynthesis of GAGs has not been established. This review provides an overview of the growing number of glycobiological studies on characterized genetic disorders caused by faults in the anabolism of GAGs.</p>

収録刊行物

被引用文献 (1)*注記

もっと見る

参考文献 (3)*注記

もっと見る

関連プロジェクト

もっと見る

キーワード

詳細情報 詳細情報について

問題の指摘

ページトップへ