Genetic defects in proteoglycan biosynthesis.

E Quentin-Hoffmann; B Harrach; H Robenek; H Kresse

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PubMed · 8446427

Genetic defects in proteoglycan biosynthesis.

E Quentin-Hoffmann·B Harrach·H Robenek·H Kresse

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Abstract

An overview on the structure of proteoglycans and on genetic defects in proteoglycan biosynthesis is given. Several patients with progeroid-like symptoms have been shown to have abnormalities in the biosynthesis of chondroitin/dermatan sulfate proteoglycans. A partial inactivity of galactosyltransferase I which catalyzes the second glycosyl transfer reaction in the assembly of glycosaminoglycan chains has been shown to represent the primary defect in one of the patients. A diminished concentration of a collagen-associated proteoglycan is considered to play a pathogenetic role in the development of loose skin.

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Carbohydrate Sequence Child, Preschool Ehlers-Danlos Syndrome Galactosyltransferases Humans Molecular Sequence Data Progeria Proteoglycans Syndrome Journal Article Review

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E Quentin-Hoffmann, B Harrach, H Robenek, H Kresse. 1993. Genetic defects in proteoglycan biosynthesis.. https://pubmed.ncbi.nlm.nih.gov/8446427/

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