Title : 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 (beta4GalT-7).

Pub. Date : 2006 Jul

PMID : 16583246






2 Functional Relationships(s)
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1 Compound heterozygous mutations in the B4GALT7 gene, resulting in aberrant glycosylation of the dermatan sulfate proteoglycan decorin, had been described in a single patient affected with the progeroid form of EDS. Dermatan Sulfate beta-1,4-galactosyltransferase 7 Homo sapiens
2 Glycosaminoglycan chains were of the dermatan/chondroitin sulfate type both in beta4GalT-7(Arg270Cys) and control cells, and epimerization was reduced for decorin and biglycan. Dermatan Sulfate beta-1,4-galactosyltransferase 7 Homo sapiens