Paracelsus Medizinische Privatuniversität (PMU)

Research & Innovation
Publications

A spoonful of L-fucose-an efficient therapy for GFUS-CDG, a new glycosylation disorder.

#2021
#EMBO MOLECULAR MEDICINE

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