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Mutations in Biosynthetic Enzymes for the Protein Linker Region of ChondroitinDermatanHeparan Sulfate Cause Skeletal and Skin Dysplasias
Joint Authors
Sugahara, Kazuyuki
Mizumoto, Shuji
Yamada, Shuhei
Source
Issue
Vol. 2015, Issue 2015 (31 Dec. 2015), pp.1-7, 7 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2015-10-25
Country of Publication
Egypt
No. of Pages
7
Main Subjects
Abstract EN
Glycosaminoglycans, including chondroitin, dermatan, and heparan sulfate, have various roles in a wide range of biological events such as cell signaling, cell proliferation, tissue morphogenesis, and interactions with various growth factors.
Their polysaccharides covalently attach to the serine residues on specific core proteins through the common linker region tetrasaccharide, -xylose-galactose-galactose-glucuronic acid, which is produced through the stepwise addition of respective monosaccharides by four distinct glycosyltransferases.
Mutations in the human genes encoding the glycosyltransferases responsible for the biosynthesis of the linker region tetrasaccharide cause a number of genetic disorders, called glycosaminoglycan linkeropathies, including Desbuquois dysplasia type 2, spondyloepimetaphyseal dysplasia, Ehlers-Danlos syndrome, and Larsen syndrome.
This review focused on recent studies on genetic diseases caused by defects in the biosynthesis of the common linker region tetrasaccharide.
American Psychological Association (APA)
Mizumoto, Shuji& Yamada, Shuhei& Sugahara, Kazuyuki. 2015. Mutations in Biosynthetic Enzymes for the Protein Linker Region of ChondroitinDermatanHeparan Sulfate Cause Skeletal and Skin Dysplasias. BioMed Research International،Vol. 2015, no. 2015, pp.1-7.
https://search.emarefa.net/detail/BIM-1057048
Modern Language Association (MLA)
Mizumoto, Shuji…[et al.]. Mutations in Biosynthetic Enzymes for the Protein Linker Region of ChondroitinDermatanHeparan Sulfate Cause Skeletal and Skin Dysplasias. BioMed Research International No. 2015 (2015), pp.1-7.
https://search.emarefa.net/detail/BIM-1057048
American Medical Association (AMA)
Mizumoto, Shuji& Yamada, Shuhei& Sugahara, Kazuyuki. Mutations in Biosynthetic Enzymes for the Protein Linker Region of ChondroitinDermatanHeparan Sulfate Cause Skeletal and Skin Dysplasias. BioMed Research International. 2015. Vol. 2015, no. 2015, pp.1-7.
https://search.emarefa.net/detail/BIM-1057048
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1057048