Research & Innovation
Publications
A spoonful of L-fucose-an efficient therapy for GFUS-CDG, a new glycosylation disorder.
PMU Authors
René Feichtinger, Andreas Koller, Dieter Kotzot, Johannes A. Mayr, Saskia Wortmann
All Authors
René Feichtinger, Andreas Hüllen, Andreas Koller, Dieter Kotzot, Valerian Grote, Erdmann Rapp, Peter Hofbauer, Karin Brugger, Christian Thiel, Johannes A. Mayr, Saskia Wortmann
Journal association
EMBO MOLECULAR MEDICINE
Abstract
Keywords
EXPRESSION, IDENTIFICATION, CRYSTAL-STRUCTURE, MUTATIONS, MICE, DEFICIENCY, GDP-L-FUCOSE, CONGENITAL DISORDER, O-FUCOSYLATION, NOTCH