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

René Feichtinger (First author), Andreas Hüllen, Andreas Koller (Co-author), Dieter Kotzot (Co-author), Valerian Grote, Erdmann Rapp, Peter Hofbauer, Karin Brugger, Christian Thiel, Johannes A. Mayr (Co-author), Saskia Wortmann* (Last author)

*Corresponding author for this work

Research output: Contribution to journalOriginal Articlepeer-review

14 Citations (Web of Science)
Original languageEnglish
Pages (from-to)e14332
JournalEMBO MOLECULAR MEDICINE
Volume13
Issue number9
DOIs
Publication statusPublished - 2021

Keywords

  • GDP-L-FUCOSE
  • CONGENITAL DISORDER
  • CRYSTAL-STRUCTURE
  • O-FUCOSYLATION
  • DEFICIENCY
  • NOTCH
  • EXPRESSION
  • MUTATIONS
  • MICE
  • IDENTIFICATION

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