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 …

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 …

[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 …

[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 …

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 …

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 …

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 …

Further defining the phenotypic spectrum of B4GALT7 mutations

CG Salter, JH Davies, RJ Moon… - American Journal of …, 2016 - Wiley Online Library
Proteoglycans are components of the extracellular matrix with diverse biological functions.
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 …

[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 …