Genetic defects in proteoglycan biosynthesis.
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.
Quentin-Hoffmann
E
E
Institute of Physiological Chemistry and Pathobiochemistry, University of Münster, Federal Republic of Germany.
Harrach
B
B
Robenek
H
H
Kresse
H
H
D002240:Carbohydrate Sequence; D002675:Child, Preschool; D004535:Ehlers-Danlos Syndrome / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D005700:Galactosyltransferases / Q000172:deficiency*; D006801:Humans; D008969:Molecular Sequence Data; D011371:Progeria / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D011509:Proteoglycans / Q000096:biosynthesis*; D013577:Syndrome
D011509:Proteoglycans; D005700:Galactosyltransferases; C063053:xylosylprotein 4-beta-galactosyltransferase