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Human Genetic Disorders and Knockout Mice Deficient in Glycosaminoglycan
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...
Autores principales: | , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Hindawi Publishing Corporation
2014
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4122003/ https://www.ncbi.nlm.nih.gov/pubmed/25126564 http://dx.doi.org/10.1155/2014/495764 |
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author | Mizumoto, Shuji Yamada, Shuhei Sugahara, Kazuyuki |
author_facet | Mizumoto, Shuji Yamada, Shuhei Sugahara, Kazuyuki |
author_sort | Mizumoto, Shuji |
collection | PubMed |
description | 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. |
format | Online Article Text |
id | pubmed-4122003 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2014 |
publisher | Hindawi Publishing Corporation |
record_format | MEDLINE/PubMed |
spelling | pubmed-41220032014-08-14 Human Genetic Disorders and Knockout Mice Deficient in Glycosaminoglycan Mizumoto, Shuji Yamada, Shuhei Sugahara, Kazuyuki Biomed Res Int Review Article 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. Hindawi Publishing Corporation 2014 2014-07-13 /pmc/articles/PMC4122003/ /pubmed/25126564 http://dx.doi.org/10.1155/2014/495764 Text en Copyright © 2014 Shuji Mizumoto et al. https://creativecommons.org/licenses/by/3.0/ This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Review Article Mizumoto, Shuji Yamada, Shuhei Sugahara, Kazuyuki Human Genetic Disorders and Knockout Mice Deficient in Glycosaminoglycan |
title | Human Genetic Disorders and Knockout Mice Deficient in Glycosaminoglycan |
title_full | Human Genetic Disorders and Knockout Mice Deficient in Glycosaminoglycan |
title_fullStr | Human Genetic Disorders and Knockout Mice Deficient in Glycosaminoglycan |
title_full_unstemmed | Human Genetic Disorders and Knockout Mice Deficient in Glycosaminoglycan |
title_short | Human Genetic Disorders and Knockout Mice Deficient in Glycosaminoglycan |
title_sort | human genetic disorders and knockout mice deficient in glycosaminoglycan |
topic | Review Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4122003/ https://www.ncbi.nlm.nih.gov/pubmed/25126564 http://dx.doi.org/10.1155/2014/495764 |
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