ReviewAmerican journal of human genetics2014
Solving glycosylation disorders: fundamental approaches reveal complicated pathways.
Review in American journal of human genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 147 papers, 2 of them syntheses that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
147 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Epilepsy characteristics in patients with muscle-eye-brain disease: A systematic review of electroclinical features.Epileptic disorders : international epilepsy journal with videotape · 2026Pooled it
- Liver involvement in congenital disorders of glycosylation (CDG). A systematic review of the literature.Journal of inherited metabolic disease · 2017Pooled it
- Mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE): genetics, mechanisms and precision therapy.Acta neuropathologica · 2026Review
- Epigenetic Landscape of H3K27ac, H3K27me3, H3K4me1, and H3K4me3 Marks in Channel Catfish Following Βeta Glucan Exposure.International journal of molecular sciences · 2026Article
- Glycogen and Glycosylation: Friends or Foes?Biomolecules · 2026Review
- Notch1 O-GlcNAcylation drives tumor stemness and mechanoadaptation to a stiff microenvironment and promotes chordoma recurrence.The Journal of clinical investigation · 2026Article
- MALDI Matrix: Origins, Innovations, and Frontiers.Chemical reviews · 2026Review
- Early neonatal diagnosis of SSR4-related congenital disorder of glycosylation with severe congenital heart defects: a case report and systematic review.Frontiers in pediatrics · 2026Article
- Roles of Core Fucosylation in Neuroinflammation and Its Possibility for Application.Advances in experimental medicine and biology · 2026Review
- Review
- Emerging Roles of Post-Translational Modifications in Metabolic Homeostasis and Type 2 Diabetes.International journal of molecular sciences · 2025Review
- Theoretical Study of the Influence of K20N Glycosylation on the Dynamic Behavior of Im7 Protein.Molecules (Basel, Switzerland) · 2025Article
- Identification of Compound HeterozygousCase reports in pediatrics · 2025Article
- Article
- Advances in total glycomic analysis including sialylated sub-glycan isomers by SALSA method.BBA advances · 2025Article
- GalNT2-mediated O-glycosylation affects pancreas development and function in mice.Scientific reports · 2024Article
- Muscle-specific lack of Gfpt1 triggers ER stress to alleviate misfolded protein accumulation.Disease models & mechanisms · 2024Article
- Cardiomyopathy, an uncommon phenotype of congenital disorders of glycosylation: Recommendations for baseline screening and follow-up evaluation.Molecular genetics and metabolism · 2024Article
- Frontiers in congenital disorders of glycosylation consortium, a cross-sectional study report at year 5 of 280 individuals in the natural history cohort.Molecular genetics and metabolism · 2024Article
- Molecular characterization of Rft1, an ER membrane protein associated with congenital disorder of glycosylation RFT1-CDG.bioRxiv : the preprint server for biology · 2024Article
87 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors.
Funding
Abstract
Over 100 human genetic disorders result from mutations in glycosylation-related genes. In 2013, a new glycosylation disorder was reported every 17 days. This trend will probably continue given that at least 2% of the human genome encodes glycan-biosynthesis and -recognition proteins. Established biosynthetic pathways provide many candidate genes, but finding unanticipated mutated genes will offer new insights into glycosylation. Simple glycobiomarkers can be used in narrowing the candidates identified by exome and genome sequencing, and those can be validated by glycosylation analysis of serum or cells from affected individuals. Model organisms will expand the understanding of these mutations' impact on glycosylation and pathology. Here, we highlight some recently discovered glycosylation disorders and the barriers, breakthroughs, and surprises they presented. We predict that some glycosylation disorders might occur with greater frequency than current estimates of their prevalence. Moreover, the prevalence of some disorders differs substantially between European and African Americans.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.