4.2 Review

Human Genetic Disorders and Knockout Mice Deficient in Glycosaminoglycan

期刊

BIOMED RESEARCH INTERNATIONAL
卷 2014, 期 -, 页码 -

出版社

HINDAWI LTD
DOI: 10.1155/2014/495764

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资金

  1. Ministry of Education, Culture, Sports, Science and Technology, Japan (MEXT) [24110501, 26110719]
  2. Japan Society for the Promotion of Science, Japan [24590071, 25860037]
  3. Drs. Hiroshi Irisawa and Aya Irisawa Memorial Research Grant from the Japan Heart Foundation
  4. Research Institute of Meijo University (Tenkai)
  5. Fugaku Trust for Medical Research
  6. Grants-in-Aid for Scientific Research [24590071, 24110501, 25860037, 26110719] Funding Source: KAKEN

向作者/读者索取更多资源

Glycosaminoglycans (GAGs) are constructed through the stepwise addition of respective monosaccharides by various glycosyltransferases and maturated by epimerases and sulfotransferases. The structural diversity of GAG polysaccharides, including their sulfation patterns and sequential arrangements, is essential for a wide range of biological activities such as cell signaling, cell proliferation, tissue morphogenesis, and interactions with various growth factors. Studies using knockout mice of enzymes responsible for the biosynthesis of the GAG side chains of proteoglycans have revealed their physiological functions. Furthermore, mutations in the human genes encoding glycosyltransferases, sulfotransferases, and related enzymes responsible for the biosynthesis of GAGs cause a number of genetic disorders including chondrodysplasia, spondyloepiphyseal dysplasia, and Ehlers-Danlos syndromes. This review focused on the increasing number of glycobiological studies on knockout mice and genetic diseases caused by disturbances in the biosynthetic enzymes for GAGs.

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