ArticleEMBO molecular medicine2021
A spoonful of L-fucose-an efficient therapy for GFUS-CDG, a new glycosylation disorder.
Article in EMBO molecular medicine, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 33 citations in OpenAlex.
- Clinical and molecular spectrum of congenital disorders of glycosylation in 80 Egyptian patients.Human genetics · 2026Article
- l-Fucose is a candidate monosaccharide neuromodulator and mitigates Alzheimer's synaptic deficits.Science advances · 2025Article
- Review
- ProteinMolecules (Basel, Switzerland) · 2025Review
- Knockout of theZoological research · 2025Article
- Genetics of glycosylation in mammalian development and disease.Nature reviews. Genetics · 2024Review
- Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.Nature genetics · 2024Article
- Novel insight into FCSK-congenital disorder of glycosylation through a CRISPR-generated cell model.Molecular genetics & genomic medicine · 2024Article
- Altered expression of Sialyl Lewis X in experimental models of Parkinson's disease.Journal of molecular medicine (Berlin, Germany) · 2024Article
- Quantitative Assessment of Core Fucosylation for Congenital Disorders of Glycosylation.Mass spectrometry (Tokyo, Japan) · 2024Article
- Article
- Rational design of GDP‑D‑mannose mannosyl hydrolase for microbial L‑fucose production.Microbial cell factories · 2023Article
- How to proceed after "negative" exome: A review on genetic diagnostics, limitations, challenges, and emerging new multiomics techniques.Journal of inherited metabolic disease · 2022Review
- Nutrition interventions in congenital disorders of glycosylation.Trends in molecular medicine · 2022Review
- Supply chain logistics - the role of the Golgi complex in extracellular matrix production and maintenance.Journal of cell science · 2022Review
- A spoonful of L-fucose-an efficient therapy for GFUS-CDG, a new glycosylation disorder.EMBO molecular medicine · 2021Article
- [Molecular medicine: pathobiochemistry as the key to personalized treatment of inherited diseases].Monatsschrift Kinderheilkunde : Organ der Deutschen Gesellschaft fur Kinderheilkunde · 2021Review
Corrections and comments
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Authors and funding
11 authors at 5 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
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];[Ser220Leu]) in a patient presenting with global developmental delay, mild coarse facial features and faltering growth. GFUS encodes GDP-L-fucose synthase, the terminal enzyme in de novo synthesis of GDP-L-fucose, required for fucosylation of N- and O-glycans. We found reduced GFUS protein and decreased GDP-L-fucose levels leading to a general hypofucosylation determined in patient's glycoproteins in serum, leukocytes, thrombocytes and fibroblasts. Complementation of patient fibroblasts with wild-type GFUS cDNA restored fucosylation. Making use of the GDP-L-fucose salvage pathway, oral fucose supplementation normalized fucosylation of proteins within 4 weeks as measured in serum and leukocytes. During the follow-up of 19 months, a moderate improvement of growth was seen, as well as a clear improvement of cognitive skills as measured by the Kaufmann ABC and the Nijmegen Pediatric CDG Rating Scale. In conclusion, GFUS-CDG is a new glycosylation disorder for which oral L-fucose supplementation is promising.
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