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The spondylodysplastic type of Ehlers-Danlos syndromes (spEDS) is caused by genetic defects in the B4GALT7 or B3GALT6 genes both deranging the biosynthesis of the glycosaminoglycan linkage region of chondroitin/dermatan sulfate and heparan sulfate proteoglycans. In this study we have analyzed the li...
ORGANISM(S): Homo sapiens (Human) 
2022-06-29 | PXD033230 | Pride
Here, using LC-MS/MS, we describe for the first time a linkage region trisaccharide comprising [-GlcUA-Gal-Xyl-O-] as an alternative point of entry for glycosaminoglycan (GAG) biosynthesis. The trisaccharide was identified in the proteoglycan bikunin from urine of human healthy donors present as a d...
ORGANISM(S): Homo sapiens (Human) 
2019-02-25 | PXD011855 | Pride
The inter-alpha-trypsin inhibitor (IαI) complex is a macromolecular arrangement of structurally related heavy chain proteins covalently cross-linked to the chondroitin sulfate (CS) chain of the proteoglycan bikunin. The IαI complex is abundant in plasma and associated with inflammation, kidney disea...
ORGANISM(S): Homo sapiens (Human) 
2015-10-02 | PXD002707 | Pride
Here we report a simple and versatile approach for domain mapping of complex mixtures of glycosaminoglycans (GAGs), GAGDoMa. The approach is based on orthogonal enzymatic depolymerization of the GAGs, generating internal oligosaccharide, non-reducing end, and linkage region GAG domains, nanoflow rev...
ORGANISM(S): Homo sapiens (Human) 
2020-02-18 | PXD014504 | Pride
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