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

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

Abstract Congenital disorders of glycosylation are a genetically and phenotypically heterogeneous family of diseases affecting the co‐ and posttranslational modification of proteins. Using exome sequencing, we detected biallelic variants in GFUS (NM_003313.4) c.[632G>A];[659C>T] (p.[Gly211Glu]...

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Main Authors: René G Feichtinger, Andreas Hüllen, Andreas Koller, Dieter Kotzot, Valerian Grote, Erdmann Rapp, Peter Hofbauer, Karin Brugger, Christian Thiel, Johannes A Mayr, Saskia B Wortmann
Format: Article
Language:English
Published: Springer Nature 2021-09-01
Series:EMBO Molecular Medicine
Subjects:
congenital disorder of glycosylation
fucosylation
GDP‐L‐fucose synthase
salvage pathway
therapy
Online Access:https://doi.org/10.15252/emmm.202114332
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https://doi.org/10.15252/emmm.202114332

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