Cited by 54Proteoglycans and glycosaminoglycans researchLysosomal Storage Disorders ResearchOsteoarthritis Treatment and Mechanisms

Human genetic disorders and knockout mice deficient in glycosaminoglycan

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Mizumoto, Shuji, Yamada, Shuhei, Sugahara, Kazuyuki·2014·BioMed Research International

Abstract

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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Authors
Mizumoto, S., Yamada, S., & Sugahara, K.
Affiliations
  • Meijo University (JP)
  • Hokkaido University (JP)
Corresponding author
  • Mizumoto, Shuji
  • Sugahara, Kazuyuki
Venue
BioMed Research International
Publisher
Wiley
Published
2014
Volume
2014
Pages
1-24
ISSN
  • 1110-7243 (ISSN-L)
  • 2314-6133
  • 2314-6141
OpenAlex
W2159046800
Cited by
54
References
262
Citations by year
2026: 1 · 2025: 2 · 2024: 2 · 2023: 1 · 2022: 7 · 2021: 7 · 2020: 8 · 2019: 4 · 2018: 8 · 2017: 3 · 2016: 4 · 2015: 6 · 2014: 1
FWCI
0.47
Type
journal article
Language
en
Open access
Locations
  • BioMed Research International (publishedVersion, cc-by)
  • Europe PMC (PubMed Central) (publishedVersion, cc-by)
  • PubMed Central (publishedVersion, cc-by)
  • PubMed (publishedVersion)
  • DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
Funders
  • Ministry of Education, Culture, Sports, Science, and Technology (24110501, 26110719, 24590071, 25860037)
  • Japan Society for the Promotion of Science (24110501, 26110719, 24590071, 25860037)
  • Japan Heart Foundation (24110501, 26110719, 24590071, 25860037)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Cell Biology › Proteoglycans and glycosaminoglycans research
  • Health Sciences › Medicine › Physiology › Lysosomal Storage Disorders Research
  • Health Sciences › Medicine › Rheumatology › Osteoarthritis Treatment and Mechanisms
Keywords
glycosaminoglycans, glycosaminoglycan synthesis, knockout mice, glycosyltransferases, sulfotransferase, proteoglycans, chondrodysplasia, spondyloepiphyseal dysplasia, Ehlers-Danlos syndrome, genetic disorders, sulfation patterns, glycobiology
MeSH terms
Animals, Ehlers-Danlos Syndrome, Glycosaminoglycans, Humans, Morphogenesis, Mutation, Osteochondrodysplasias, Signal Transduction, Glycosyltransferases, Mice, Knockout, Cell Proliferation

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