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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...

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Detalles Bibliográficos
Autores principales: Mizumoto, Shuji, Yamada, Shuhei, Sugahara, Kazuyuki
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2014
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.
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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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