,
, Molecular Biology of the Cell, 2002.
Structurefunction relationships of membrane-associated GT-B glycosyltransferases, Glycobiology, vol.24, pp.108-124, 2014. ,
Cloning and expression of a proteoglycan UDP-galactose:beta-xylose beta1,4-galactosyltransferase I. A seventh member of the human beta4-galactosyltransferase gene family, J. Biol. Chem, vol.274, pp.26165-26171, 1999. ,
A family of human beta3-galactosyltransferases. Characterization of four members of a UDPgalactose:beta-N-acetyl-glucosamine/beta-nacetyl-galactosamine beta-1,3-galactosyltransferase family, J. Biol. Chem, vol.273, pp.12770-12778, 1998. ,
Identification and characterization of large galactosyltransferase gene families: galactosyltransferases for all functions, Biochim. Biophys. Acta, vol.1473, pp.35-53, 1999. ,
The Different Roles of Aggrecan Interaction Domains, J. Histochem. Cytochem, vol.60, pp.987-996, 2012. ,
Faulty Initiation of Proteoglycan Synthesis Causes Cardiac and Joint Defects, Am. J. Hum. Genet, vol.89, pp.15-27, 2011. ,
Syndecan-1 interaction with the LG4/5 domain in laminin-332 is essential for keratinocyte migration, J. Cell. Physiol, vol.214, pp.238-249, 2008. ,
Biosynthesis of the linkage region of glycosaminoglycans: cloning and activity of galactosyltransferase II, the sixth member of the beta 1,3-galactosyltransferase family (beta 3GalT6), J. Biol. Chem, vol.276, pp.48189-48195, 2001. ,
Sulphated and undersulphated heparan sulphate proteoglycans in a Chinese hamster ovary cell mutant defective in Nsulphotransferase, Biochem. J, vol.303, pp.81-87, 1994. ,
The manifestations and natural history of spondylo-epi-metaphyseal dysplasia with joint laxity, Clin. Genet, vol.26, pp.308-317, 1984. ,
Ehlers-Danlos syndromes: revised nosology, Villefranche, 1997. Ehlers-Danlos National Foundation (USA) and Ehlers-Danlos Support Group (UK), Am. J. Med. Genet, vol.77, pp.31-37, 1998. ,
,
, A B3GALT6 variant in patient originally described as Al-Gazali syndrome and implicating the endoplasmic reticulum quality control in the mechanism of some ?3GalT6-pathy mutations, Clin. Genet, vol.93, pp.1148-1158
, , 2013.
, Decorin potentiates interferon-? activity in a model of allergic inflammation, J. Biol. Chem, vol.288, pp.12699-12711
The N-terminal stem region of bovine and human ?1,4-galactosyltransferase I increases the in vitro folding efficiency of their catalytic domain from inclusion bodies, Protein Expr. Purif, vol.30, pp.219-229, 2003. ,
The Ehlers-Danlos syndromes, rare types, Am. J. Med. Genet. C Semin. Med. Genet, vol.175, pp.70-115, 2017. ,
URL : https://hal.archives-ouvertes.fr/hal-01709261
Recent structures, evolution and mechanisms of glycosyltransferases, Curr. Opin. Struct. Biol, vol.22, pp.540-549, 2012. ,
URL : https://hal.archives-ouvertes.fr/hal-00757514
Resistance to Lyme disease in decorin-deficient mice, J. Clin. Invest, vol.107, pp.845-852, 2001. ,
Skeletal dysplasia in a consanguineous clan from the island of Nias/Indonesia is caused by a novel mutation in B3GAT3, Hum. Genet, vol.134, pp.691-704, 2015. ,
Molecular characterization of ?1,4-galactosyltransferase 7 genetic mutations linked to the progeroid form of Ehlers-Danlos syndrome (EDS), FEBS Lett, vol.584, pp.3962-3968, 2010. ,
XYLT1 Mutations in Desbuquois Dysplasia Type 2, Am. J. Hum. Genet, vol.94, pp.405-414, 2014. ,
URL : https://hal.archives-ouvertes.fr/hal-01704452
Tenascin-X deficiency is associated with Ehlers-Danlos syndrome, Nat. Genet, vol.17, pp.104-108, 1997. ,
Mutations in PRDM5 in Brittle Cornea Syndrome Identify a Pathway Regulating Extracellular Matrix Development and Maintenance, Am. J. Hum. Genet, vol.88, pp.767-777, 2011. ,
Contribution of EXT1, EXT2, and EXTL3 to Heparan Sulfate Chain Elongation, J. Biol. Chem, vol.282, pp.32802-32810, 2007. ,
Vascular Ehlers-Danlos Syndrome, 1993. ,
,
Ehlers-Danlos syndrome: A showcase of conditions that lead to understanding matrix biology, Matrix Biol, vol.33, pp.10-15, 2014. ,
Molecular cloning and characterization of N-syndecan, a novel transmembrane heparan sulfate proteoglycan, J. Cell Biol, vol.117, pp.191-201, 1992. ,
Expanding the clinical spectrum of B4GALT7 deficiency: homozygous p.R270C mutation with founder effect causes Larsen of Reunion Island syndrome, Eur. J. Hum. Genet, vol.23, pp.49-53, 2015. ,
Ehlers-Danlos Syndrome, Hypermobility Type: An Underdiagnosed Hereditary Connective Tissue Disorder with Mucocutaneous, Articular, and Systemic Manifestations. ISRN Dermatol, 2012. ,
Overview of the Baculovirus Expression System, Curr. Protoc. Protein Sci, vol.91, 2018. ,
Structure of the nucleotide-diphospho-sugar transferase, SpsA from Bacillus subtilis, in native and nucleotide-complexed forms, Biochemistry, vol.38, pp.6380-6385, 1999. ,
Syndecan-2 is essential for angiogenic sprouting during zebrafish development, Blood, vol.103, pp.1710-1719, 2004. ,
Syndecan-2 Regulates Transforming Growth Factor-? Signaling, J. Biol. Chem, vol.279, pp.15715-15718, 2004. ,
The GAGOme: a cell-based library of displayed glycosaminoglycans, Nat. Methods, vol.15, pp.881-888, 2018. ,
Syndecans as Cell Surface Receptors in Cancer Biology. A Focus on their Interaction with PDZ Domain Proteins, Front. Pharmacol, vol.7, p.10, 2016. ,
Molecules in Focus: Collagen XII: Protecting bone and muscle integrity by organizing collagen fibrils, Int. J. Biochem. Cell Biol, vol.53, pp.51-54, 2014. ,
Syndecans as cell surface receptors: Unique structure equates with functional diversity, Matrix Biol. J. Int. Soc. Matrix Biol, vol.30, pp.93-99, 2011. ,
Inducible expression of the cell surface heparan sulfate proteoglycan syndecan-2 (fibroglycan) on human activated macrophages can regulate fibroblast growth factor action, J. Biol. Chem, vol.274, pp.24113-24123, 1999. ,
Human Ehlers-Danlos syndrome type VII C and bovine dermatosparaxis are caused by mutations in the procollagen I N-proteinase gene, Am. J. Hum. Genet, vol.65, pp.308-317, 1999. ,
Novel Types of Mutation Responsible for the Dermatosparactic Type of Ehlers-Danlos Syndrome (Type VIIC) and Common Polymorphisms in the ADAMTS2 Gene, J. Invest. Dermatol, vol.123, pp.656-663, 2004. ,
Transmembrane signaling proteoglycans, Annu. Rev. Cell Dev. Biol, vol.26, pp.89-114, 2010. ,
Truncations of xyloglucan xylosyltransferase 2 provide insights into the roles of the N-and C-terminus, Phytochemistry, vol.128, pp.12-19, 2016. ,
Targeted disruption of decorin leads to abnormal collagen fibril morphology and skin fragility, J. Cell Biol, vol.136, pp.729-743, 1997. ,
Molecular cloning of amphiglycan, a novel integral membrane heparan sulfate proteoglycan expressed by epithelial and fibroblastic cells, J. Cell Biol, vol.118, pp.961-969, 1992. ,
Brittle Cornea Syndrome ZNF469 Mutation Carrier Phenotype and Segregation Analysis of Rare ZNF469 Variants in Familial Keratoconus, Invest. Ophthalmol. Vis. Sci, vol.56, pp.578-586, 2015. ,
, , 1997.
, Mutations in the COL5A1 gene are causal in the Ehlers-Danlos syndromes I and II, Am. J. Hum. Genet, vol.60, pp.547-554
Novel defects in collagen XII and VI expand the mixed myopathy/Ehlers-Danlos syndrome spectrum and lead to variant-specific alterations in the extracellular matrix, Genet. Med, pp.1-12, 2019. ,
,
, Hypomorphic zebrafish models mimic the musculoskeletal phenotype of ?4GalT7-deficient Ehlers-Danlos syndrome, Matrix Biol
Arterial complications of vascular Ehlers-Danlos syndrome, J. Vasc. Surg, vol.64, pp.1869-1880, 2016. ,
Order out of chaos: assembly of ligand binding sites in heparan sulfate, Annu. Rev. Biochem, vol.71, pp.435-471, 2002. ,
Influence of core protein sequence on glycosaminoglycan assembly, Curr. Opin. Struct. Biol, vol.6, pp.663-670, 1996. ,
Animal cell mutants defective in glycosaminoglycan biosynthesis, Proc. Natl. Acad. Sci. U. S. A, vol.82, pp.3197-3201, 1985. ,
Enhancement of soluble protein expression through the use of fusion tags, Curr. Opin. Biotechnol, vol.17, pp.353-358, 2006. ,
A novel missense mutation in the galactosyltransferase-I (B4GALT7) gene in a family exhibiting facioskeletal anomalies and Ehlers-Danlos syndrome resembling the progeroid type, Am. J. Med. Genet. A, vol.128, pp.39-45, 2004. ,
Influence of cyclic strain and decorin deficiency on 3D cellularized collagen matrices, Biomaterials, vol.29, pp.2740-2748, 2008. ,
A role for decorin in controlling proliferation, adhesion, and migration of murine embryonic fibroblasts, J. Biomed. Mater. Res. A, vol.93, pp.419-428, 2010. ,
Molecular cloning and expression of human chondroitin 6-sulfotransferase, Biochim. Biophys. Acta, vol.1399, pp.57-61, 1998. ,
Keratan Sulfate Biosynthesis, IUBMB Life Int. Union Biochem. Mol. Biol. Life, vol.54, pp.187-194, 2002. ,
Genes for collagen types I, IV, and V are transcribed in Hela cells but a postinitiation block prevents the accumulation of type I mRNA, Exp. Cell Res, vol.192, pp.118-121, 1991. ,
The structure of glycosaminoglycans and their interactions with proteins, Chem. Biol. Drug Des, vol.72, pp.455-482, 2008. ,
Vascular Ehlers-Danlos syndrome, Ann. Génétique, vol.47, pp.1-9, 2004. ,
The arthrochalasia type of Ehlers-Danlos syndrome (EDS VIIA and VIIB): The diagnostic value of collagen fibril ultrastructure, Am. J. Med. Genet. A, vol.146, pp.1341-1346, 2008. ,
Spondylocheiro Dysplastic Form of the Ehlers-Danlos Syndrome-An Autosomal-Recessive Entity Caused by Mutations in the Zinc Transporter Gene SLC39A13, Am. J. Hum. Genet, vol.82, pp.1290-1305, 2008. ,
Advances in understanding glycosyltransferases from a structural perspective, Curr. Opin. Struct. Biol, vol.28, pp.131-141, 2014. ,
Ehlers-Danlos syndrome and periventricular nodular heterotopia in a Spanish family with a single FLNA mutation, J. Med. Genet, vol.43, pp.232-237, 2006. ,
Defective glycosaminoglycan substitution of decorin in a patient with progeroid syndrome is a direct consequence of two point mutations in the galactosyltransferase I (beta4GalT-7) gene, Biochem. Genet, vol.43, pp.65-77, 2005. ,
Changes in heparan sulfate are associated with delayed wound repair, altered cell migration, adhesion and contractility in the galactosyltransferase I (beta4GalT-7) deficient form of Ehlers-Danlos syndrome, Hum. Mol. Genet, vol.17, pp.996-1009, 2008. ,
Molecular cloning and expression of human UDP-d-Xylose:proteoglycan core protein beta-d-xylosyltransferase and its first isoform XT-II, J. Mol. Biol, vol.304, pp.517-528, 2000. ,
Syndecan 3: a member of the syndecan family of membrane-intercalated proteoglycans that is expressed in high amounts at the onset of chicken limb cartilage differentiation, Proc. Natl. Acad. Sci. U. S. A, vol.89, p.3271, 1992. ,
Syntenin, a PDZ protein that binds syndecan cytoplasmic domains, Proc. Natl. Acad. Sci. U. S. A, vol.94, p.13683, 1997. ,
, , 2019.
, Cardiac valvular Ehlers-Danlos syndrome is a well-defined condition due to recessive null variants in COL1A2, Am. J. Med. Genet. A, vol.179, pp.846-851
A current view of perlecan in physiology and pathology: A mosaic of functions, Matrix Biol. J. Int. Soc. Matrix Biol, pp.285-298, 2017. ,
Epileptogenic brain malformations: clinical presentation, malformative patterns and indications for genetic testing, Seizure, vol.10, pp.544-547, 2001. ,
Bilateral periventricular nodular heterotopia with mental retardation and frontonasal malformation, Neurology, vol.51, pp.499-503, 1998. ,
Phosphorylation and sulfation of oligosaccharide substrates critically influence the activity of human beta1,4-galactosyltransferase 7 (GalT-I) and beta1,3-glucuronosyltransferase I (GlcAT-I) involved in the biosynthesis of the glycosaminoglycan-protein linkage region of proteoglycans, J. Biol. Chem, vol.280, pp.1417-1425, 2005. ,
Redefining the Progeroid Form of Ehlers-Danlos Syndrome: Report of the Fourth Patient with B4GALT7 Deficiency and Review of the Literature, Am. J. Med. Genet. A, vol.161, pp.2519-2527, 2013. ,
Distinct and collaborative roles of Drosophila EXT family proteins in morphogen signalling and gradient formation, Dev. Camb. Engl, vol.131, pp.1563-1575, 2004. ,
Inheritance of Dermatosparaxis in the CalfA genetic defect of connective tissues, J. Hered, vol.65, pp.356-358, 1974. ,
Existence of malfunctioning pro?2(I) collagen genes in a patient with a pro?2(I)-chain-defective variant of Ehlers-Danlos syndrome, Eur. J. Biochem, vol.174, pp.231-237, 1988. ,
Fell-Muir Lecture: Proteoglycans and more--from molecules to biology, Int. J. Exp. Pathol, vol.90, pp.575-586, 2009. ,
The galactosyltransferase family, Cell. Mol. Life Sci. CMLS, vol.59, pp.1081-1095, 2002. ,
Genomic cloning and expression of three murine UDP-galactose: beta-N-acetylglucosamine beta1,3-galactosyltransferase genes, J. Biol. Chem, vol.273, pp.58-65, 1998. ,
Mutations in the collagen XII gene define a new form of extracellular matrix-related myopathy, Hum. Mol. Genet, vol.23, pp.2353-2363, 2014. ,
, , 2000.
, Molecular cloning and expression of two distinct human chondroitin 4-O-sulfotransferases that belong to the HNK-1 sulfotransferase gene family, J. Biol. Chem, vol.275, pp.20188-20196
On the roles and regulation of chondroitin sulfate and heparan sulfate in zebrafish pharyngeal cartilage morphogenesis, J. Biol. Chem, vol.287, pp.33905-33916, 2012. ,
Basement membrane proteoglycans: from cellar to ceiling, Nat. Rev. Mol. Cell Biol, vol.6, pp.646-656, 2005. ,
Proteoglycan form and function: A comprehensive nomenclature of proteoglycans, Matrix Biol. J. Int. Soc. Matrix Biol, vol.42, pp.11-55, 2015. ,
Cloning, expression, and characterization of a novel UDP-galactose:beta-N-acetylglucosamine beta1,3-galactosyltransferase (beta3Gal-T5) responsible for synthesis of type 1 chain in colorectal and pancreatic epithelia and tumor cells derived therefrom, J. Biol. Chem, vol.274, pp.12499-12507, 1999. ,
Impairment of Embryonic Cell Division and Glycosaminoglycan Biosynthesis in Glucuronyltransferase-I-deficient Mice, J. Biol. Chem, vol.285, pp.12190-12196, 2010. ,
Chondroitin 4-Osulfotransferase-1 regulates the chain length of chondroitin sulfate in co-operation with chondroitin N-acetylgalactosaminyltransferase-2, Biochem. J, vol.434, pp.321-331, 2011. ,
, , 2015.
, GlcUA?1-3Gal?1-3Gal?1-4Xyl(2-O-phosphate) is the preferred substrate for chondroitin Nacetylgalactosaminyltransferase-1, J. Biol. Chem, vol.290, pp.5438-5448
Exome sequencing reveals two novel compound heterozygous XYLT1 mutations in a Polish patient with Desbuquois dysplasia type 2 and growth hormone deficiency, J. Hum. Genet, vol.61, pp.577-583, 2016. ,
The Phenotype of the Musculocontractural Type of Ehlers-Danlos Syndrome due to CHST14 Mutations, Am. J. Med. Genet. A, vol.170, pp.103-115, 2016. ,
A role for decorin in cutaneous wound healing and angiogenesis, Wound Repair Regen. Off. Publ. Wound Heal. Soc. Eur. Tissue Repair Soc, vol.14, pp.443-452, 2006. ,
Pivotal role for decorin in angiogenesis, Matrix Biol. J. Int. Soc. Matrix Biol, vol.43, pp.15-26, 2015. ,
A Syndrome of Joint Laxity and Impaired Tendon Integrity in Lumican-and Fibromodulin-deficient Mice, J. Biol. Chem, vol.277, pp.35532-35540, 2002. ,
Hyaluronan as an Immune Regulator in Human Diseases, Physiol. Rev, vol.91, pp.221-264, 2011. ,
Eukaryotic expression, purification, crystallization and preliminary X-ray analysis of murine Manic Fringe, Acta Crystallograph. Sect. F Struct. Biol. Cryst. Commun, vol.62, pp.774-777, 2006. ,
A homozygous B3GAT3 mutation causes a severe syndrome with multiple fractures, expanding the phenotype of linkeropathy syndromes, Am. J. Med. Genet. A, vol.167, pp.2691-2696, 2015. ,
Stoicheiometry and kinetics of the prolyl 4-hydroxylase partial reaction, Biochim. Biophys. Acta BBA -Protein Struct. Mol. Enzymol, vol.787, pp.105-111, 1984. ,
Vascular Ehlers-Danlos Syndrome in siblings with biallelic COL3A1 sequence variants and marked clinical variability in the extended family, Eur. J. Hum. Genet, vol.23, pp.796-802, 2015. ,
Cloning and expression of human core 1 beta1,3-galactosyltransferase, J. Biol. Chem, vol.277, pp.178-186, 2002. ,
,
, Increased C-telopeptide Cross-linking of Tendon Type I Collagen in Fibromodulindeficient Mice, J. Biol. Chem, vol.289, pp.18873-18879
Fibromodulin Interacts with Collagen Cross-linking Sites and Activates Lysyl Oxidase, J. Biol. Chem, vol.291, pp.7951-7960, 2016. ,
Templatebased protein structure modeling using the RaptorX web server, Nat. Protoc, vol.7, pp.1511-1522, 2012. ,
Molecular cloning and characterization of chondroitin-4-O-sulfotransferase-3. A novel member of the HNK-1 family of sulfotransferases, J. Biol. Chem, vol.277, pp.34766-34772, 2002. ,
Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S, which Encode Subcomponents C1r and C1s of Complement, Am. J. Hum. Genet, vol.99, pp.1005-1014, 2016. ,
URL : https://hal.archives-ouvertes.fr/hal-01404030
Decorin binds near the C terminus of type I collagen, J. Biol. Chem, vol.275, pp.21801-21804, 2000. ,
Structure and function of aggrecan, Cell Res, vol.12, pp.19-32, 2002. ,
Human tumor suppressor EXT gene family members EXTL1 and EXTL3 encode alpha 1,4-N-acetylglucosaminyltransferases that likely are involved in heparan sulfate/ heparin biosynthesis, Proc. Natl. Acad. Sci. U. S. A, vol.98, pp.7176-7181, 2001. ,
High-level expression of human glycosyltransferases in insect cells as biochemically active form, Biochem. Biophys. Res. Commun, vol.305, pp.488-493, 2003. ,
Molecular cloning and expression of glucuronyltransferase I involved in the biosynthesis of the glycosaminoglycan-protein linkage region of proteoglycans, J. Biol. Chem, vol.273, pp.6615-6618, 1998. ,
The tumor suppressor EXT-like gene EXTL2 encodes an alpha1, 4-N-acetylhexosaminyltransferase that transfers Nacetylgalactosamine and N-acetylglucosamine to the common glycosaminoglycan-protein linkage region. The key enzyme for the chain initiation of heparan sulfate, J. Biol. Chem, vol.274, pp.13933-13937, 1999. ,
Molecular Cloning and Expression of a Human Chondroitin Synthase, J. Biol. Chem, vol.276, pp.38721-38726, 2001. ,
Molecular Cloning of a Chondroitin Polymerizing Factor That Cooperates with Chondroitin Synthase for Chondroitin Polymerization, J. Biol. Chem, vol.278, pp.23666-23671, 2003. ,
Ehlers-Danlos Arthrochalasia type (VIIA-B) -expanding the phenotype: from prenatal life through adulthood, Clin. Genet, vol.82, pp.121-130, 2012. ,
Control of extracellular matrix assembly by syndecan-2 proteoglycan, J. Cell Sci, vol.113, pp.493-506, 2000. ,
Molecular cloning and characterization of a human uronyl 2-sulfotransferase that sulfates iduronyl and glucuronyl residues in dermatan/chondroitin sulfate, J. Biol. Chem, vol.274, pp.10474-10480, 1999. ,
Association of EXT1 and EXT2, hereditary multiple exostoses gene products, in Golgi apparatus, Biochem. Biophys. Res. Commun, vol.268, pp.860-867, 2000. ,
FAM20B is a kinase that phosphorylates xylose in the glycosaminoglycan-protein linkage region, Biochem. J, vol.421, pp.157-162, 2009. ,
Identification of phosphatase that dephosphorylates xylose in the glycosaminoglycan-protein linkage region of proteoglycans, J. Biol. Chem, vol.289, pp.6695-6708, 2014. ,
Molecular cloning and expression of two distinct cDNA-encoding heparan sulfate proteoglycan core proteins from a rat endothelial cell line, J. Biol. Chem, vol.267, pp.4870-4877, 1992. ,
Cloning of a human UDP-galactose:2-acetamido-2-deoxy-D-glucose 3beta-galactosyltransferase catalyzing the formation of type 1 chains, J. Biol. Chem, vol.273, pp.433-440, 1998. ,
Complete and partial XYLT1 deletion in a patient with neonatal short limb skeletal dysplasia, Am. J. Med. Genet. A, vol.170, pp.510-514, 2016. ,
Early structural changes in cartilage and bone are required for the attachment and invasion of inflamed synovial tissue during destructive inflammatory arthritis, Ann. Rheum. Dis, vol.71, pp.1004-1011, 2012. ,
Glycosaminoglycan-free small proteoglycan core protein is secreted by fibroblasts from a patient with a syndrome resembling progeroid, Am. J. Hum. Genet, vol.41, pp.436-453, 1987. ,
Heparan sulfate biosynthesis: regulation and variability, J. Histochem. Cytochem. Off. J. Histochem. Soc, vol.60, pp.898-907, 2012. ,
High-level expression and purification of human xylosyltransferase I in High Five insect cells as biochemically active form, Biochem. Biophys. Res. Commun, vol.312, pp.537-544, 2003. ,
Glycosyltransferases: structures, functions, and mechanisms, Annu. Rev. Biochem, vol.77, pp.521-555, 2008. ,
Chondroitin sulphate: A complex molecule with potential impacts on a wide range of biological systems, Complement. Ther. Med, vol.17, pp.56-62, 2009. ,
Structure of human O-GlcNAc transferase and its complex with a peptide substrate, Nature, vol.469, pp.564-567, 2011. ,
Hypermobile Ehlers-Danlos Syndrome, 1993. ,
Chapter Six -Heparan Sulfate: Biosynthesis, Structure, and Function, International Review of Cell and Molecular Biology, pp.215-273, 2016. ,
Proteoglycan sequence, Mol. Biosyst, vol.8, pp.1613-1625, 2012. ,
Transforming growth factor beta (TGF-?) isoforms in wound healing and fibrosis, Wound Repair Regen, vol.24, pp.215-222, 2016. ,
Structural insights into the mechanism of protein O-fucosylation, PloS One, vol.6, 2011. ,
Gene array profile identifies collagen type XV as a novel human osteoblast-secreted matrix protein, J. Cell. Physiol, vol.220, pp.401-409, 2009. ,
Three monophyletic superfamilies account for the majority of the known glycosyltransferases, Protein Sci. Publ. Protein Soc, vol.12, pp.1418-1431, 2003. ,
Molecular mechanism of substrate specificity for heparan sulfate 2-Osulfotransferase, J. Biol. Chem, vol.289, pp.13407-13418, 2014. ,
, , 2011.
The carbohydrate-active enzymes database (CAZy) in 2013, Nucleic Acids Res, vol.42, pp.490-495, 2014. ,
MicroRNA-93 promotes angiogenesis and attenuates remodeling via inactivation of the Hippo/Yap pathway by targeting Lats2 after myocardial infarction?, Mol. Med. Rep, vol.22, pp.483-493, 2020. ,
Classic Ehlers-Danlos Syndrome, 1993. ,
The natural history, including orofacial features of three patients with Ehlers-Danlos syndrome, dermatosparaxis type (EDS type VIIC), Am. J. Med. Genet. A, vol.131, pp.18-28, 2004. ,
The molecular basis of classic Ehlers-Danlos syndrome: A comprehensive study of biochemical and molecular findings in 48 unrelated patients, Hum. Mutat, vol.25, pp.28-37, 2005. ,
, , 2006.
, Total absence of the ?2(I) chain of collagen type I causes a rare form of Ehlers-Danlos syndrome with hypermobility and propensity to cardiac valvular problems, J. Med. Genet, vol.43, p.36
Three arginine to cysteine substitutions in the pro-alpha (I)-collagen chain cause Ehlers-Danlos syndrome with a propensity to arterial rupture in early adulthood, Hum. Mutat, vol.28, pp.387-395, 2007. ,
Musculocontractural Ehlers-Danlos Syndrome (former EDS type VIB) and adducted thumb clubfoot syndrome (ATCS) represent a single clinical entity caused by mutations in the dermatan-4-sulfotransferase 1 encoding CHST14 gene, Hum. Mutat, vol.31, pp.1233-1239, 2010. ,
URL : https://hal.archives-ouvertes.fr/hal-00599478
Defective initiation of glycosaminoglycan synthesis due to B3GALT6 mutations causes a pleiotropic Ehlers-Danlossyndrome-like connective tissue disorder, Am. J. Hum. Genet, vol.92, pp.935-945, 2013. ,
The 2017 international classification of the Ehlers-Danlos syndromes, Am. J. Med. Genet. C Semin. Med. Genet, vol.175, pp.8-26, 2017. ,
URL : https://hal.archives-ouvertes.fr/hal-01709259
Iduronic acid in chondroitin/dermatan sulfate: biosynthesis and biological function, J. Histochem. Cytochem. Off. J. Histochem. Soc, vol.60, pp.916-925, 2012. ,
A novel therapeutic strategy for Ehlers-Danlos syndrome based on nutritional supplements, Med. Hypotheses, vol.64, pp.279-283, 2005. ,
The heparan sulfate sulfotransferase 3-OST3A (HS3ST3A) is a novel tumor regulator and a prognostic marker in breast cancer, Oncogene, vol.35, pp.5043-5055, 2016. ,
URL : https://hal.archives-ouvertes.fr/hal-01452311
A role for decorin in a murine model of allergen-induced asthma, Am. J. Physiol. Lung Cell. Mol. Physiol, vol.300, pp.863-873, 2011. ,
Partial primary structure of the 48-and 90-kilodalton core proteins of cell surface-associated heparan sulfate proteoglycans of lung fibroblasts. Prediction of an integral membrane domain and evidence for multiple distinct core proteins at the cell surface of human lung fibroblasts, J. Biol. Chem, vol.264, pp.7017-7024, 1989. ,
The putative tumor suppressors EXT1 and EXT2 form a stable complex that accumulates in the Golgi apparatus and catalyzes the synthesis of heparan sulfate, Proc. Natl. Acad. Sci. U. S. A, vol.97, pp.668-673, 2000. ,
Heparan sulfate and heparin interactions with proteins, J. R. Soc. Interface, vol.12, 2015. ,
Signaling by the matrix proteoglycan decorin controls inflammation and cancer through PDCD4 and MicroRNA-21, Sci. Signal, vol.4, p.75, 2011. ,
URL : https://hal.archives-ouvertes.fr/inserm-00642810
Identification of a Novel ZNF469 Mutation in a Pakistani Family With Brittle Cornea Syndrome, Cornea, vol.38, pp.718-722, 2019. ,
Biosynthesis and function of chondroitin sulfate, Biochim. Biophys. Acta, vol.1830, pp.4719-4733, 2013. ,
Specificities of three distinct human chondroitin/dermatan N-acetylgalactosamine 4-O-sulfotransferases demonstrated using partially desulfated dermatan sulfate as an acceptor: implication of differential roles in dermatan sulfate biosynthesis, J. Biol. Chem, vol.278, pp.36115-36127, 2003. ,
, , 2014.
, Forward Genetics Defines Xylt1 as a Key, Conserved Regulator of Early Chondrocyte Maturation and Skeletal Length, Dev. Biol, vol.385, pp.67-82
Ehlers-Danlos syndrome associated with glycosaminoglycan abnormalities, Adv. Exp. Med. Biol, vol.802, pp.145-159, 2014. ,
Expression cloning of rat cDNA encoding UDP-galactose:GD2 beta1,3-galactosyltransferase that determines the expression of GD1b/GM1/GA1, J. Biol. Chem, vol.272, pp.24794-24799, 1997. ,
, , 2000.
, The Protein Core of the Proteoglycan Perlecan Binds Specifically to Fibroblast Growth Factor
, J. Biol. Chem, vol.275, pp.7095-7100
Fibroblast Growth Factor-binding Protein Is a Novel Partner for Perlecan Protein Core, J. Biol. Chem, vol.276, pp.10263-10271, 2001. ,
, Expression and Characterization of Human ?-1, 4-Galactosyltransferase 1, 2017.
, Using Silkworm-Baculovirus Expression System, Mol. Biotechnol, vol.59, pp.151-158
Syndecan-2 and decorin: proteoglycans with a difference--implications in keloid pathogenesis, J. Trauma, vol.68, pp.999-1008, 2010. ,
Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders, Am. J. Hum. Genet, vol.92, pp.927-934, 2013. ,
Solubility-enhancing proteins MBP and NusA play a passive role in the folding of their fusion partners, Protein Expr. Purif, vol.45, pp.175-182, 2006. ,
,
, Decorin antagonizes the angiogenic network: concurrent inhibition of Met, hypoxia inducible factor 1?, vascular endothelial growth factor A, and induction of thrombospondin-1 and TIMP3, J. Biol. Chem, vol.287, pp.5492-5506
, , 2013.
, Decorin induces rapid secretion of thrombospondin-1 in basal breast carcinoma cells via inhibition of Ras homolog gene family, member A/Rho-associated coiled-coil containing protein kinase 1, FEBS J, vol.280, pp.2353-2368
Protein glycosylation in bacteria: sweeter than ever, Nat. Rev. Microbiol, vol.8, pp.765-778, 2010. ,
Fibroblast growth factor-2, Int. J. Biochem. Cell Biol, vol.32, pp.115-120, 2000. ,
, , 2000.
, Classical Ehlers-Danlos syndrome caused by a mutation in type I collagen, Am. J. Hum. Genet, vol.66, pp.1398-1402
Engineering proteins to facilitate bioprocessing, Trends Biotechnol, vol.12, pp.184-188, 1994. ,
,
, Tenascin-X deficiency and Ehlers-Danlos syndrome: a case report and review of the literature, Br. J. Dermatol, vol.163, pp.1340-1345
Skeletal Dysplasia, Global Developmental Delay, and Multiple Congenital Anomalies in a 5 year-old boy-Report of the Second Family with B3GAT3 mutation and Expansion of the Phenotype, Am. J. Med. Genet. A, vol.0, pp.1580-1586, 2014. ,
Effect of Osmotic Stress and Heat Shock in Recombinant Protein Overexpression and Crystallization, Protein Expr. Purif, vol.52, pp.280-285, 2007. ,
The short arm of laminin gamma2 chain of laminin-5 (laminin-332) binds syndecan-1 and regulates cellular adhesion and migration by suppressing phosphorylation of integrin beta4 chain, Mol. Biol. Cell, vol.18, pp.1621-1633, 2007. ,
Molecular basis for the progeroid variant of Ehlers-Danlos syndrome. Identification and characterization of two mutations in galactosyltransferase I gene, J. Biol. Chem, vol.274, pp.28841-28844, 1999. ,
Bleeding and bruising in patients with Ehlers-Danlos syndrome and other collagen vascular disorders, Br. J. Haematol, vol.127, pp.491-500, 2004. ,
The Ehlers-Danlos syndrome, a disorder with many faces, Clin. Genet, vol.82, pp.1-11, 2012. ,
Fold-recognition and comparative modeling of human ?3GalT I, II, IV, V and VI and ?3GalNAcT I: Prediction of residues conferring acceptor substrate specificity, J. Mol. Graph. Model, vol.26, pp.255-268, 2007. ,
RaptorX: exploiting structure information for protein alignment by statistical inference, Proteins, vol.79, pp.161-171, 2011. ,
Clinical and Genetic Features of Ehlers-Danlos Syndrome Type IV, the Vascular Type, 2009. ,
Identification of a non-canonical chondroitin sulfate linkage region trisaccharide, Glycobiology, vol.29, pp.366-371, 2019. ,
Molecular cloning of the major cell surface heparan sulfate proteoglycan from rat liver, J. Biol. Chem, vol.267, pp.3894-3900, 1992. ,
Enzyme interactions in heparan sulfate biosynthesis: uronosyl 5-epimerase and 2-O-sulfotransferase interact in vivo, Proc. Natl. Acad. Sci. U. S. A, vol.98, pp.12984-12989, 2001. ,
Heparan sulfate proteoglycans: a sugar code for vertebrate development?, Dev. Camb. Engl, vol.142, pp.3456-3467, 2015. ,
Heparan sulfate biosynthesis enzymes EXT1 and EXT2 affect NDST1 expression and heparan sulfate sulfation, Proc. Natl. Acad. Sci. U. S. A, vol.105, pp.4751-4756, 2008. ,
A novel COL12A1 variant expands the clinical picture of congenital myopathies with extracellular matrix defects, Muscle Nerve, vol.55, pp.277-281, 2017. ,
Heparanase-enhanced shedding of syndecan-1 by myeloma cells promotes endothelial invasion and angiogenesis, Blood, vol.115, pp.2449-2457, 2010. ,
Ehlers-Danlos syndrome, N. Engl. J. Med, vol.342, pp.730-732, 2000. ,
Location and Mechanism of ?2,6-Sialyltransferase Dimer Formation : Role of cysteine residues in enzyme dimerization, localization, activity, and processing, J. Biol. Chem, vol.276, pp.28641-28649, 2001. ,
Structural and functional study of D-glucuronyl C5-epimerase, J. Biol. Chem, vol.290, pp.4620-4630, 2015. ,
Biochemical and thermodynamic characterization of mutated ?1,4-galactosyltransferase 7 involved in the progeroid form of the Ehlers-Danlos syndrome, Biochem. J, vol.432, pp.303-311, 2010. ,
, , 2008.
, Glycosaminoglycans show a specific periodic interaction with type I collagen fibrils, J. Struct. Biol, vol.164, pp.134-139
Vitamin C and human wound healing. Oral Surg, Oral Med. Oral Pathol, vol.53, pp.231-236, 1982. ,
Clinical and molecular characterization of 40 patients with classic Ehlers-Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutations, Orphanet J, 2013. ,
Insights in the etiopathology of galactosyltransferase II (GalT-II) deficiency from transcriptome-wide expression profiling of skin fibroblasts of two sisters with compound heterozygosity for two novel B3GALT6 mutations, Mol. Genet. Metab. Rep, vol.2, pp.1-15, 2015. ,
Expanding the clinical and mutational spectrum of B4GALT7-spondylodysplastic Ehlers-Danlos syndrome, Orphanet J. Rare Dis, vol.12, 2017. ,
, , 2019.
, Further Defining the Phenotypic Spectrum of B3GAT3 Mutations and Literature Review on Linkeropathy Syndromes, Genes, vol.10
Initiation of chondroitin sulphate synthesis by beta-D-galactosides. Substrates for galactosyltransferase II, Biochem. J, vol.227, pp.805-814, 1985. ,
, , 2012.
, A bacterial cysteine protease effector protein interferes with photosynthesis to suppress plant innate immune responses, Cell. Microbiol, vol.14, pp.669-681
Phenotypic variability of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA): clinical, molecular and biochemical delineation, Orphanet J. Rare Dis, vol.6, p.46, 2011. ,
Shed syndecan-2 inhibits angiogenesis, J. Cell Sci, vol.127, p.4788, 2014. ,
Pregnancy complications in type IV Ehlers-Danlos Syndrome, The Lancet, vol.321, pp.50-53, 1983. ,
The glycosaminoglycan chain of decorin plays an important role in collagen fibril formation at the early stages of fibrillogenesis, FEBS J, vol.274, pp.4246-4255, 2007. ,
Probing the Acceptor Active Site Organization of the Human Recombinant ?1,4-Galactosyltransferase 7 and Design of Xylosidebased Inhibitors, J. Biol. Chem, vol.290, pp.7658-7670, 2015. ,
URL : https://hal.archives-ouvertes.fr/hal-01451902
Further defining the phenotypic spectrum of B4GALT7 mutations, Am. J. Med. Genet. A, vol.170, pp.1556-1563, 2016. ,
Molecular cloning of syndecan, an integral membrane proteoglycan, J. Cell Biol, vol.108, pp.1547-1556, 1989. ,
, A Recessive Form of the Ehlers-Danlos Syndrome Caused by Tenascin-X Deficiency, 2009.
Bacterial Glycosyltransferases: Challenges and Opportunities of a Highly Diverse Enzyme Class Toward Tailoring Natural Products, Front. Microbiol, vol.7, 2016. ,
Rare Autosomal Recessive Cardiac Valvular Form of Ehlers-Danlos Syndrome Results from Mutations in the COL1A2 Gene That Activate the Nonsense-Mediated RNA Decay Pathway, Am. J. Hum. Genet, vol.74, pp.917-930, 2004. ,
Proteoglycan-fibrillar collagen interactions, Biochem. J, vol.252, pp.313-323, 1988. ,
, , 2000.
, Cytokine regulation of syndecan expression in cells of liver origin, Cytokine, vol.12, pp.1557-1560
A physiologic three-dimensional cell culture system to investigate the role of decorin in matrix organisation and cell survival, Biochem. Biophys. Res. Commun, vol.332, pp.1162-1170, 2005. ,
Defective glycosylation of decorin and biglycan, altered collagen structure, and abnormal phenotype of the skin fibroblasts of an Ehlers-Danlos syndrome patient carrying the novel Arg270Cys substitution in galactosyltransferase I, J. Mol. Med, vol.84, pp.583-594, 2006. ,
The role for decorin in delayed-type hypersensitivity, J. Immunol. Baltim. Md, vol.187, pp.6108-6119, 1950. ,
The EXT1/EXT2 tumor suppressors: catalytic activities and role in heparan sulfate biosynthesis, EMBO Rep, vol.1, pp.282-286, 2000. ,
,
, Cav-1 Ablation in Pancreatic Stellate Cells Promotes Pancreatic Cancer Growth through Nrf2-Induced shh Signaling, Oxid. Med. Cell. Longev, p.1868764, 2020.
Structural basis of homoand heterotrimerization of collagen I, Nat. Commun, vol.8, 2017. ,
Ehler-Danlos syndrome type VI variant presenting with recurrent respiratory infections and responding to high dose vitamin C, J. Assoc. Physicians India, vol.47, pp.554-555, 1999. ,
Indian hedgehog and syndecans-3 coregulate chondrocyte proliferation and function during chick limb skeletogenesis, Dev. Dyn. Off. Publ. Am. Assoc. Anat, vol.229, pp.607-617, 2004. ,
Receptor binding and membrane fusion in virus entry: the influenza hemagglutinin, Annu. Rev. Biochem, vol.69, pp.531-569, 2000. ,
Trapping and characterization of covalent intermediates of mutant retaining glycosyltransferases, Glycobiology, vol.21, pp.547-552, 2011. ,
Using CRISPR-Cas9 to quantify the contributions of O-glycans, N-glycans and Glycosphingolipids to human leukocyte-endothelium adhesion, Sci. Rep, vol.6, 2016. ,
Structural studies on sulfated glycopeptides from the carbohydrate-protein linkage region of chondroitin 4-sulfate proteoglycans of swarm rat chondrosarcoma. Demonstration of the structure Gal(4-O-sulfate)beta 1-3Gal beta 1-4XYL beta 1-O-Ser, J. Biol. Chem, vol.263, p.10168, 1988. ,
Structural studies on sulfated oligosaccharides derived from the carbohydrate-protein linkage region of chondroitin 6-sulfate proteoglycans of shark cartilage. I. Six compounds containing 0 or 1 sulfate and/or phosphate residues, J. Biol. Chem, vol.267, pp.6027-6035, 1992. ,
Laminin-332 and -511 in skin, Exp. Dermatol, vol.17, pp.473-480, 2008. ,
, , 1999.
Mice Have Abnormal Collagen Fibrils, Tissue Organization, and Altered Lumican Deposition in Tendon, J. Biol. Chem, vol.274, pp.9636-9647 ,
Comprehensive molecular analysis demonstrates type V collagen mutations in over 90% of patients with classic EDS and allows to refine diagnostic criteria, Hum. Mutat, vol.33, pp.1485-1493, 2012. ,
Genetic Heterogeneity and Clinical Variability in Musculocontractural Ehlers-Danlos Syndrome Caused by Impaired Dermatan Sulfate Biosynthesis, Hum. Mutat, vol.36, pp.535-547, 2015. ,
Hypermobility, The Ehlers-Danlos syndromes and chronic pain, Clin. Exp. Rheumatol, vol.35, pp.116-122, 2017. ,
Bi-allelic AEBP1 mutations in two patients with Ehlers-Danlos syndrome, Hum. Mol. Genet, vol.28, pp.1853-1864, 2019. ,
Identification of Key Functional Residues in the Active Site of Human ?1,4-Galactosyltransferase 7, J. Biol. Chem, vol.285, pp.37342-37358, 2010. ,
HEK293T cell lines defective for O-linked glycosylation, PLoS ONE, vol.12, 2017. ,
Extracellular matrix structure, Adv. Drug Deliv. Rev, vol.97, pp.4-27, 2016. ,
The Tyrosine Sulfate Domain of Fibromodulin Binds Collagen and Enhances Fibril Formation, J. Biol. Chem, vol.291, pp.23744-23755, 2016. ,
, , 2017.
, Ehlers-Danlos syndrome Type III and Ehlers-Danlos syndrome hypermobility type): Clinical description and natural history, Am. J. Med. Genet. C Semin. Med. Genet, vol.175, pp.48-69
, , 2006.
, Clustering Induces Cell Migration in a PDZ-Dependent Manner, Circ. Res, vol.98, pp.1398-1404
2-o-phosphorylation of xylose and 6-o-sulfation of galactose in the protein linkage region of glycosaminoglycans influence the glucuronyltransferase-I activity involved in the linkage region synthesis, J. Biol. Chem, vol.283, pp.16801-16807, 2008. ,
A translocation interrupts the COL5A1 gene in a patient with Ehlers-Danlos syndrome and hypomelanosis of Ito, Nat. Genet, vol.13, pp.361-365, 1996. ,
Crystal structures of ?-1,4-galactosyltransferase 7 enzyme reveal conformational changes and substrate binding, J. Biol. Chem, vol.288, pp.31963-31970, 2013. ,
Keratan Sulfate: Biosynthesis, Structures, and Biological Functions, pp.389-400, 2015. ,
Functional analysis of the chondroitin 6-sulfotransferase gene in relation to lymphocyte subpopulations, brain development, and oversulfated chondroitin sulfates, J. Biol. Chem, vol.277, pp.1443-1450, 2002. ,
A Unique Sequence of the Laminin ?3 G Domain Binds to Heparin and Promotes Cell Adhesion through Syndecan-2 and -4, J. Biol. Chem, vol.276, pp.28779-28788, 2001. ,
Molecular Cloning and Expression of Human ChondroitinN-Acetylgalactosaminyltransferase : The key enzyme for chain initiation and elongation of chondroitin/dermatan sulfate on protein linkage region tetrasaccharide shared by heparin/heparan sulfate, J. Biol. Chem, vol.277, pp.8841-8846, 2002. ,
Molecular Cloning and Expression of a Second Chondroitin N-Acetylgalactosaminyltransferase Involved in the Initiation and Elongation of Chondroitin/Dermatan Sulfate, J. Biol. Chem, vol.278, pp.3072-3078, 2003. ,
Expanding the clinical and mutational spectrum of the Ehlers-Danlos syndrome, dermatosparaxis type, Genet. Med, vol.18, pp.882-891, 2016. ,
Biallelic B3GALT6 mutations cause spondylodysplastic Ehlers-Danlos syndrome, Hum. Mol. Genet, vol.27, pp.3475-3487, 2018. ,
URL : https://hal.archives-ouvertes.fr/hal-02392981
The heparin/heparan sulfate sequence that interacts with cyclophilin B contains a 3-O-sulfated N-unsubstituted glucosamine residue, J. Biol. Chem, vol.282, pp.24416-24429, 2007. ,
URL : https://hal.archives-ouvertes.fr/hal-00167204
Human Collagen Prolyl 4-Hydroxylase is Activated by Ligands for its Iron Center, Biochemistry, vol.55, pp.3224-3233, 2016. ,
Spondyloepimetaphyseal dysplasia with joint laxity (Beighton type); mutation analysis in eight affected South African families, Clin. Genet, vol.87, pp.492-495, 2015. ,
Crystal structure of the DNA modifying enzyme beta-glucosyltransferase in the presence and absence of the substrate uridine diphosphoglucose, EMBO J, vol.13, pp.3413-3422, 1994. ,
Brittle cornea syndrome: a case report and review of the literature, BMC Ophthalmol, vol.18, 2018. ,
, , 2011.
, TNF-? and IL-1? promote a disintegrin-like and metalloprotease with thrombospondin type I motif-5-mediated aggrecan degradation through syndecan-4 in intervertebral disc, J. Biol. Chem, vol.286, pp.39738-39749
Chondroitin sulfate/dermatan sulfate sulfatases from mammals and bacteria, Glycoconj. J, vol.33, pp.841-851, 2016. ,
Characterization of human peripheral blood ?? T cells in patients with sepsis, Exp. Ther. Med, vol.19, pp.3698-3706, 2020. ,
A role for decorin in the remodeling of myocardial infarction, Matrix Biol. J. Int. Soc. Matrix Biol, vol.24, pp.313-324, 2005. ,
Xylose phosphorylation functions as a molecular switch to regulate proteoglycan biosynthesis, Proc. Natl. Acad. Sci. U. S. A, vol.111, pp.15723-15728, 2014. ,
A splice-junction mutation in the region of COL5A1 that codes for the carboxyl propeptide of pro alpha 1(V) chains results in the gravis form of the Ehlers-Danlos syndrome (type I), Hum. Mol. Genet, vol.5, pp.1733-1736, 1996. ,
The degradation of human endothelial cell-derived perlecan and release of bound basic fibroblast growth factor by stromelysin, collagenase, plasmin, and heparanases, J. Biol. Chem, vol.271, pp.10079-10086, 1996. ,
Hyaluronan and the Aggregating Proteoglycans, The Extracellular Matrix: An Overview, pp.147-195, 2011. ,
ATDC5 cells as a model of cartilage extracellular matrix neosynthesis, maturation and assembly, J. Proteomics, 2020. ,
URL : https://hal.archives-ouvertes.fr/hal-02938632
, , 2003.
, Vitronectin's basic domain is a syndecan ligand which functions in trans to regulate vitronectin turnover, Cell Commun. Adhes, vol.10, pp.85-103
Growth factors and cytokines modulate gene expression of cell-surface proteoglycans in human periodontal ligament cells, J. Cell. Physiol, vol.186, pp.448-456, 2001. ,
A Chinese family with periodontal Ehlers-Danlos syndrome associated with missense mutation in the C1R gene, J. Clin. Periodontol, vol.45, pp.1311-1318, 2018. ,
Syndecans as receptors and organizers of the extracellular matrix, Cell Tissue Res, vol.339, pp.31-46, 2010. ,
A case of Ehlers-Danlos syndrome presenting with widened atrophic scars of forehead, elbow, knee, and pretibial area, Medicine, p.98, 2019. ,
Chondroitin sulfate synthase-2. Molecular cloning and characterization of a novel human glycosyltransferase homologous to chondroitin sulfate glucuronyltransferase, which has dual enzymatic activities, J. Biol. Chem, vol.278, pp.30235-30247, 2003. ,
Chondroitin sulfate synthase-3. Molecular cloning and characterization, J. Biol. Chem, vol.278, pp.39711-39725, 2003. ,
Soluble syndecan-1 promotes growth of myeloma tumors in vivo, Blood, vol.100, pp.610-617, 2002. ,
ATDC5: An excellent in vitro model cell line for skeletal development, J. Cell. Biochem, vol.114, pp.1223-1229, 2013. ,
PLOD1-Related Kyphoscoliotic Ehlers-Danlos Syndrome, 1993. ,
Thermodynamics of binding of divalent magnesium and manganese to uridine phosphates: implications for diabetes-related hypomagnesaemia and carbohydrate biocatalysis, Chem. Cent. J, vol.2, p.15, 2008. ,
Amino acid determinants that drive heparan sulfate assembly in a proteoglycan, J. Biol. Chem, vol.269, pp.19295-19299, 1994. ,
Repetitive Ser-Gly Sequences Enhance Heparan Sulfate Assembly in Proteoglycans, J. Biol. Chem, vol.270, pp.27127-27135, 1995. ,
CHO Glycosylation Mutants: Proteoglycans, Methods in Enzymology, pp.205-221, 2006. ,
Molecular cloning of a human UDPgalactose:GlcNAcbeta1,3GalNAc beta1, 3 galactosyltransferase gene encoding an O-linked core3-elongation enzyme, Eur. J. Biochem, vol.263, pp.571-576, 1999. ,
Résumé : Les protéoglycanes (PGs) sont des composants majeurs des membranes plasmiques des cellules et de la matrice extracellulaire. Ces macromolécules jouent un rôle important dans l'organisation architecturale des tissus conjonctifs et dans la signalisation cellulaire, notamment au cours du développement embryonnaire et post-natal. Les PGs sont composés de chaînes de glycosaminoglycanes (GAGs) attachées de façon covalente à une protéine core par une amorce tétrasaccharidique ?acide glucuronique-?1,3-galactose-?1,3-galactose-?1,4-xylose-?1-O-?. L'addition du troisième résidu (galactose) est catalysée par la ?1,3-galactosyltransférase 6 (?3GalT6), une enzyme clé de l'initiation de la synthèse des GAGs. Plusieurs études ont mis en évidence la présence de mutations de la ?3GalT6 associées à la forme spondylodysplastique du Syndrome d'Ehlers-Danlos (SEDsp), une maladie génétique sévère des tissus conjonctifs et caractérisée par une fragilité des tissus, Hum. Mol. Genet, vol.23, pp.2339-2352, 2014. ,
, les conséquences fonctionnelles et structurales des mutations de la ?3GalT6 et leur rôle dans la pathogénie du SEDsp, (i) en réalisant une caractérisation moléculaire et fonctionnelle de la protéine recombinante humaine et (ii) en développant un modèle cellulaire déficient en ?3GalT6 pour étudier l'impact des défauts génétiques sur les fonctions métaboliques des cellules
, Pour ce faire, nous avons produit dans la bactérie et purifié différentes formes tronquées solubles de la ?3GalT6 fusionnées avec la Maltose Binding Protein (MBP). Les essais enzymatiques ont permis de déterminer les constantes cinétiques KM et kcat de la protéine sauvage. Les mutants de la ?3GalT6 seront étudiés ultérieurement selon la même approche
, La seconde partie de ce travail de thèse a été de réaliser un modèle cellulaire déficient en ?3GalT6 en utilisant la technologie CRISPR/Cas9. Les clones déficients obtenus présentent (i) un très faible niveau d'expression de l'ARNm, (ii) une absence d'activité galactosyltransférase et (iii) un défaut de synthèse des GAGs endogènes ou à partir d'un substrat exogène xylosidique. Nous avons initié l'analyse de la capacité de la ?3GalT6 sauvage et de deux mutants
, nous avons acquis une meilleure compréhension de l'implication de la ?3GalT6 dans la pathogénie du SEDsp et mieux compris le lien entre la perte de fonction de la ?3GalT6 et les conséquences métaboliques et cellulaires de cette déficience génétique. Ces résultats, mis en lien avec la sévérité des symptômes cliniques observés chez les patients
, Mot clés : Syndrome d'Ehlers-Danlos
PGs are composed of glycosaminoglycan (GAG) chains covalently attached to a core protein through a tetrasaccharide linkage ?Glucuronic acid-?1,3-Galactose-?1,3-Galactose-?1,4-Xylose-?1-O-?. The addition of the third residue (galactose) is catalyzed by the ?1,3-Galactosyltransferase 6 (?3GalT6), a key glycosyltransferase in GAG initiation. Our group and others discovered that mutations of ?3GalT6 are associated to a spondylodysplastic form of Ehlers-Danlos Syndrome (spEDS), a severe connective tissue disorder characterized by skin and bone fragility, musculoskeletal malformations, delayed wound healing, joint hyperlaxity and intellectual disabilities. The objectives of this project is to understand the functional and structural consequences of ?3GalT6 mutations in the development of spEDS, (i) achieving the molecular and functional characterization of the recombinant human ?3GalT6 and (ii) to develop cellular models ,
, The first part of the project is dedicated to the determination of mutation impact on the ?3GalT6 function. For this, we produce and purify several truncated soluble forms of h?3GalT6 in fusion to Maltose Binding Protein. The enzymatic activity tests have determined a KM of 30 µM and a kcat of 0,05 min -1 on wild-type enzyme
, Deficient clones obtained present (i) a low level of RNA expression, (ii) an absence of galactosyltransferase activity and (iii) a defect on endogenous GAG synthesis or with exogenous substrate. We also analyze the capacity for WT ?3GalT6 and two mutants (Asp207His and Gly217Ser) to restore GAGs synthesis in deficient cells. From this work, we better understand the implication of ?3GalT6 in the pathology of spEDS and relationships between ?3GalT6 loss of function, cellular consequences of genetic defect. Those results linked with the severity of spEDS clinical symptoms observed in patients, would help clinicians with management and clinical monitoring of spEDS patients, The second part of the project is achieving to develop a ?3GalT6 deficient cell model using the CRISPR/Cas 9 technology, pp.3-6