Article
A deficiency in dolichyl-P-glucose:Glc1Man9GlcNAc2-PP-dolichyl alpha3-glucosyltransferase defines a new subtype of congenital disorders of glycosylation.
The Journal of biological chemistry - 14 Mar 2003
Chantret Isabelle, Dancourt Julia, Dupré Thierry, Delenda Christophe, Bucher Stéphanie, Vuillaumier-Barrot Sandrine, Ogier de Baulny Hélène, Peletan Celine, Danos Olivier, Seta Nathalie, Durand Geneviève, Oriol Rafael, Codogno Patrice, Moore Stuart E H
Abstract excerpt
The underlying causes of type I congenital disorders of glycosylation (CDG I) have been shown to be mutations in genes encoding proteins involved in the biosynthesis of the dolichyl-linked oligosaccharide (Glc(3)Man(9)GlcNAc(2)-PP-dolichyl) that is required for protein glycosylation. Here we describe a CDG I patient displaying gastrointestinal problems but no central nervous system deficits. Fibroblasts from this...
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