Article
Defect in dermatan sulfate in urine of patients with Ehlers-Danlos syndrome caused by a CHST14/D4ST1 deficiency.
Clinical biochemistry - 1 Aug 2017
Mizumoto Shuji, Kosho Tomoki, Hatamochi Atsushi, Honda Tomoko, Yamaguchi Tomomi, Okamoto Nobuhiko, Miyake Noriko, Yamada Shuhei, Sugahara Kazuyuki
Abstract excerpt
PURPOSE: Dermatan sulfate (DS) plays a number of roles in a wide range of biological activities such as cell signaling and tissue morphogenesis through interactions with various extracellular matrix proteins including collagen. Mutations in the carbohydrate sulfotransferase 14 gene (CHST14) encoding CHST14/dermatan 4-O-sulfotransferase-1 (D4ST1), which is responsible for the biosynthesis of DS, cause a recently...
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