Title : Genetic heterogeneity and clinical variability in musculocontractural Ehlers-Danlos syndrome caused by impaired dermatan sulfate biosynthesis.

Pub. Date : 2015 May

PMID : 25703627






2 Functional Relationships(s)
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Compound Name
Protein Name
Organism
1 DS-epi1 and D4ST1 are crucial for biosynthesis of dermatan sulfate (DS) moieties in the hybrid chondroitin sulfate (CS)/DS glycosaminoglycans (GAGs). Dermatan Sulfate carbohydrate sulfotransferase 14 Homo sapiens
2 The glycanation of the dermal DS proteoglycan decorin is impaired in fibroblasts from D4ST1- as well as DS-epi1-deficient patients. Dermatan Sulfate carbohydrate sulfotransferase 14 Homo sapiens