グリコサミノグリカンの生合成異常による遺伝性疾患
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- Mizumoto Shuji
- Department of Pathobiochemistry, Faculty of Pharmacy, Meijo University
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- Yamada Shuhei
- Department of Pathobiochemistry, Faculty of Pharmacy, Meijo University
書誌事項
- タイトル別名
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- 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
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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
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- Trends in Glycoscience and Glycotechnology
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Trends in Glycoscience and Glycotechnology 32 (186), E45-E51, 2020-03-25
FCCA(Forum: Carbohydrates Coming of Age)
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詳細情報 詳細情報について
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- CRID
- 1390846609815638144
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- NII論文ID
- 130007815517
- 130007815514
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- NII書誌ID
- AA10995236
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- ISSN
- 18832113
- 09157352
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- 本文言語コード
- en
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- データソース種別
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- JaLC
- NDL
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- 抄録ライセンスフラグ
- 使用不可