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Human Genetic Disorders and Knockout Mice Deficient in Glycosaminoglycan
Joint Authors
Sugahara, Kazuyuki
Mizumoto, Shuji
Yamada, Shuhei
Source
Issue
Vol. 2014, Issue 2014 (31 Dec. 2014), pp.1-24, 24 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2014-07-13
Country of Publication
Egypt
No. of Pages
24
Main Subjects
Abstract EN
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.
American Psychological Association (APA)
Mizumoto, Shuji& Yamada, Shuhei& Sugahara, Kazuyuki. 2014. Human Genetic Disorders and Knockout Mice Deficient in Glycosaminoglycan. BioMed Research International،Vol. 2014, no. 2014, pp.1-24.
https://search.emarefa.net/detail/BIM-476244
Modern Language Association (MLA)
Mizumoto, Shuji…[et al.]. Human Genetic Disorders and Knockout Mice Deficient in Glycosaminoglycan. BioMed Research International No. 2014 (2014), pp.1-24.
https://search.emarefa.net/detail/BIM-476244
American Medical Association (AMA)
Mizumoto, Shuji& Yamada, Shuhei& Sugahara, Kazuyuki. Human Genetic Disorders and Knockout Mice Deficient in Glycosaminoglycan. BioMed Research International. 2014. Vol. 2014, no. 2014, pp.1-24.
https://search.emarefa.net/detail/BIM-476244
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-476244