The Ehlers–Danlos syndromes, rare types
AF Brady, S Demirdas… - American Journal of …, 2017 - Wiley Online Library
The Ehlers–Danlos syndromes comprise a clinically and genetically heterogeneous group
of heritable connective tissue disorders, which are characterized by joint hypermobility, skin …
of heritable connective tissue disorders, which are characterized by joint hypermobility, skin …
Recent structures, evolution and mechanisms of glycosyltransferases
C Breton, S Fournel-Gigleux, MM Palcic - Current opinion in structural …, 2012 - Elsevier
Cellular glycome assembly requires the coordinated action of a large number of
glycosyltransferases that catalyse the transfer of a sugar residue from a donor to specific …
glycosyltransferases that catalyse the transfer of a sugar residue from a donor to specific …
[PDF][PDF] Defective initiation of glycosaminoglycan synthesis due to B3GALT6 mutations causes a pleiotropic Ehlers-Danlos-syndrome-like connective tissue disorder
F Malfait, A Kariminejad, T Van Damme… - The American Journal of …, 2013 - cell.com
Proteoglycans are important components of cell plasma membranes and extracellular
matrices of connective tissues. They consist of glycosaminoglycan chains attached to a core …
matrices of connective tissues. They consist of glycosaminoglycan chains attached to a core …
[HTML][HTML] Human genetic disorders caused by mutations in genes encoding biosynthetic enzymes for sulfated glycosaminoglycans
S Mizumoto, S Ikegawa, K Sugahara - Journal of Biological Chemistry, 2013 - ASBMB
A number of genetic disorders are caused by mutations in the genes encoding
glycosyltransferases and sulfotransferases, enzymes responsible for the synthesis of …
glycosyltransferases and sulfotransferases, enzymes responsible for the synthesis of …
The missing “link”: an autosomal recessive short stature syndrome caused by a hypofunctional XYLT1 mutation
J Schreml, B Durmaz, O Cogulu, K Keupp, F Beleggia… - Human genetics, 2014 - Springer
Proteoglycan (PG) synthesis begins with the sequential addition of a “linker chain”, made up
of four sugar residues, to a specific region of a core protein. Defects in the enzymes …
of four sugar residues, to a specific region of a core protein. Defects in the enzymes …
Human genetic disorders and knockout mice deficient in glycosaminoglycan
S Mizumoto, S Yamada… - BioMed research …, 2014 - Wiley Online Library
Glycosaminoglycans (GAGs) are constructed through the stepwise addition of respective
monosaccharides by various glycosyltransferases and maturated by epimerases and …
monosaccharides by various glycosyltransferases and maturated by epimerases and …
Alterations in glycosaminoglycan biosynthesis associated with the Ehlers-Danlos syndromes
D Syx, S Delbaere, C Bui, A De Clercq… - … of Physiology-Cell …, 2022 - journals.physiology.org
Proteoglycans consist of a core protein substituted with one or more glycosaminoglycan
(GAG) chains and execute versatile functions during many physiological and pathological …
(GAG) chains and execute versatile functions during many physiological and pathological …
Further defining the phenotypic spectrum of B4GALT7 mutations
Proteoglycans are components of the extracellular matrix with diverse biological functions.
Defects in proteoglycan synthesis have been linked to several human diseases with …
Defects in proteoglycan synthesis have been linked to several human diseases with …
Hypomorphic zebrafish models mimic the musculoskeletal phenotype of β4GalT7-deficient Ehlers-Danlos syndrome
S Delbaere, T Van Damme, D Syx, S Symoens… - Matrix Biology, 2020 - Elsevier
Abstract β4GalT7 is a transmembrane Golgi enzyme, encoded by B4GALT7, that plays a
pivotal role in the proteoglycan linker region formation during proteoglycan biosynthesis …
pivotal role in the proteoglycan linker region formation during proteoglycan biosynthesis …
[HTML][HTML] Insights in the etiopathology of galactosyltransferase II (GalT-II) deficiency from transcriptome-wide expression profiling of skin fibroblasts of two sisters with …
M Ritelli, N Chiarelli, N Zoppi, C Dordoni… - Molecular genetics and …, 2015 - Elsevier
Mutations in B3GALT6, encoding the galactosyltransferase II (GalT-II) involved in the
synthesis of the glycosaminoglycan (GAG) linkage region of proteoglycans (PGs), have …
synthesis of the glycosaminoglycan (GAG) linkage region of proteoglycans (PGs), have …