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Mutations in Biosynthetic Enzymes for the Protein Linker Region of Chondroitin/Dermatan/Heparan Sulfate Cause Skeletal and Skin Dysplasias
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 resi...
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| Published in: | BioMed research international 2015-01, Vol.2015 (2015), p.1-7 |
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| creator | Mizumoto, Shuji Sugahara, Kazuyuki Yamada, Shuhei |
| description | 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. |
| doi_str_mv | 10.1155/2015/861752 |
| format | article |
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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.</description><identifier>ISSN: 2314-6133</identifier><identifier>EISSN: 2314-6141</identifier><identifier>DOI: 10.1155/2015/861752</identifier><identifier>PMID: 26582078</identifier><language>eng</language><publisher>Cairo, Egypt: Hindawi Publishing Corporation</publisher><subject>Acids ; Biosynthesis ; Cell growth ; Cell Proliferation - genetics ; Chondroitin - metabolism ; Craniofacial Abnormalities - enzymology ; Craniofacial Abnormalities - genetics ; Craniofacial Abnormalities - metabolism ; Dermatan Sulfate - metabolism ; Development and progression ; Dwarfism - enzymology ; Dwarfism - genetics ; Dwarfism - metabolism ; Dysplasia ; Ehlers-Danlos Syndrome - enzymology ; Ehlers-Danlos Syndrome - genetics ; Ehlers-Danlos Syndrome - metabolism ; Enzymes ; Fibroblasts ; Glycosaminoglycans ; Glycosyltransferases - genetics ; Heparan sulfate ; Heparitin Sulfate - metabolism ; Humans ; Joint Instability - enzymology ; Joint Instability - genetics ; Joint Instability - metabolism ; Morphogenesis - genetics ; Mutation ; Ossification, Heterotopic - enzymology ; Ossification, Heterotopic - genetics ; Ossification, Heterotopic - metabolism ; Osteochondrodysplasias - enzymology ; Osteochondrodysplasias - genetics ; Osteochondrodysplasias - metabolism ; Physiological aspects ; Polydactyly - enzymology ; Polydactyly - genetics ; Polydactyly - metabolism ; Proteins ; Review</subject><ispartof>BioMed research international, 2015-01, Vol.2015 (2015), p.1-7</ispartof><rights>Copyright © 2015 Shuji Mizumoto et al.</rights><rights>COPYRIGHT 2015 John Wiley & Sons, Inc.</rights><rights>Copyright © 2015 Shuji Mizumoto et al. 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.</rights><rights>Copyright © 2015 Shuji Mizumoto et al. 2015</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c594t-36ef0f1e761aae5257d0f22e4de45b7e2efad786bf1c2127afc3b4affa1bd4b23</citedby><cites>FETCH-LOGICAL-c594t-36ef0f1e761aae5257d0f22e4de45b7e2efad786bf1c2127afc3b4affa1bd4b23</cites><orcidid>0000-0002-4641-1505 ; 0000-0002-1284-9795 ; 0000-0003-3600-9376</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.proquest.com/docview/1731736508/fulltextPDF?pq-origsite=primo$$EPDF$$P50$$Gproquest$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://www.proquest.com/docview/1731736508?pq-origsite=primo$$EHTML$$P50$$Gproquest$$Hfree_for_read</linktohtml><link.rule.ids>230,314,780,784,885,25753,27924,27925,37012,37013,44590,75126</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/26582078$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><contributor>Skandalis, Spyros S.</contributor><creatorcontrib>Mizumoto, Shuji</creatorcontrib><creatorcontrib>Sugahara, Kazuyuki</creatorcontrib><creatorcontrib>Yamada, Shuhei</creatorcontrib><title>Mutations in Biosynthetic Enzymes for the Protein Linker Region of Chondroitin/Dermatan/Heparan Sulfate Cause Skeletal and Skin Dysplasias</title><title>BioMed research international</title><addtitle>Biomed Res Int</addtitle><description>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.</description><subject>Acids</subject><subject>Biosynthesis</subject><subject>Cell growth</subject><subject>Cell Proliferation - genetics</subject><subject>Chondroitin - metabolism</subject><subject>Craniofacial Abnormalities - enzymology</subject><subject>Craniofacial Abnormalities - genetics</subject><subject>Craniofacial Abnormalities - metabolism</subject><subject>Dermatan Sulfate - metabolism</subject><subject>Development and progression</subject><subject>Dwarfism - enzymology</subject><subject>Dwarfism - genetics</subject><subject>Dwarfism - metabolism</subject><subject>Dysplasia</subject><subject>Ehlers-Danlos Syndrome - enzymology</subject><subject>Ehlers-Danlos Syndrome - genetics</subject><subject>Ehlers-Danlos Syndrome - metabolism</subject><subject>Enzymes</subject><subject>Fibroblasts</subject><subject>Glycosaminoglycans</subject><subject>Glycosyltransferases - 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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.</abstract><cop>Cairo, Egypt</cop><pub>Hindawi Publishing Corporation</pub><pmid>26582078</pmid><doi>10.1155/2015/861752</doi><tpages>7</tpages><orcidid>https://orcid.org/0000-0002-4641-1505</orcidid><orcidid>https://orcid.org/0000-0002-1284-9795</orcidid><orcidid>https://orcid.org/0000-0003-3600-9376</orcidid><oa>free_for_read</oa></addata></record> |
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| subjects | Acids Biosynthesis Cell growth Cell Proliferation - genetics Chondroitin - metabolism Craniofacial Abnormalities - enzymology Craniofacial Abnormalities - genetics Craniofacial Abnormalities - metabolism Dermatan Sulfate - metabolism Development and progression Dwarfism - enzymology Dwarfism - genetics Dwarfism - metabolism Dysplasia Ehlers-Danlos Syndrome - enzymology Ehlers-Danlos Syndrome - genetics Ehlers-Danlos Syndrome - metabolism Enzymes Fibroblasts Glycosaminoglycans Glycosyltransferases - genetics Heparan sulfate Heparitin Sulfate - metabolism Humans Joint Instability - enzymology Joint Instability - genetics Joint Instability - metabolism Morphogenesis - genetics Mutation Ossification, Heterotopic - enzymology Ossification, Heterotopic - genetics Ossification, Heterotopic - metabolism Osteochondrodysplasias - enzymology Osteochondrodysplasias - genetics Osteochondrodysplasias - metabolism Physiological aspects Polydactyly - enzymology Polydactyly - genetics Polydactyly - metabolism Proteins Review |
| title | Mutations in Biosynthetic Enzymes for the Protein Linker Region of Chondroitin/Dermatan/Heparan Sulfate Cause Skeletal and Skin Dysplasias |
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