ReviewBiochimica et biophysica acta2009
Glycosylation diseases: quo vadis?
Review in Biochimica et biophysica acta, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 53 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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
53 citing papers in PubMed, 109 citations in OpenAlex.
- A novel protein glycan biomarker and future cardiovascular disease events.Journal of the American Heart Association · 2014Trial
- Hypomorphic homozygous mutations in phosphoglucomutase 3 (PGM3) impair immunity and increase serum IgE levels.The Journal of allergy and clinical immunology · 2014Trial
- Spatial metabolomics and multiomics integration for breakthroughs in precision medicine for kidney disease.Nature reviews. Nephrology · 2026Review
- Targeted metabolomic evaluation of peripheral blood mononucleated cells from patients with PMM2-CDG.Scientific reports · 2025Article
- Dysregulation of N-glycosylation byInternational journal of biological sciences · 2025Article
- The mannose receptor ligands and the macrophage glycome.Current opinion in structural biology · 2022Review
- The second DDOST-CDG patient with lactose intolerance, developmental delay, and situs inversus totalis.Journal of human genetics · 2022Article
- Circulating Glycan Monosaccharide Composite-Based Biomarker Diagnoses Colorectal Cancer at Early Stages and Predicts Prognosis.Frontiers in oncology · 2022Article
- Mass Spectrometry-Based Glycoproteomics and Prostate Cancer.International journal of molecular sciences · 2021Review
- Altered glycosylation in cancer: A promising target for biomarkers and therapeutics.Biochimica et biophysica acta. Reviews on cancer · 2021Review
- GlycA Levels during the Earliest Stages of Rheumatoid Arthritis: Potential Use as a Biomarker of Subclinical Cardiovascular Disease.Journal of clinical medicine · 2020Article
- Fetal bovine serum impacts the observed N-glycosylation defects in TMEM165 KO HEK cells.Journal of inherited metabolic disease · 2020Article
- Nanopipette-assisted single cell metabolic glycan labeling.RSC advances · 2019Article
- Mammary Gland Transcriptome and Proteome Modifications by Nutrient Restriction in Early Lactation Holstein Cows Challenged with Intra-Mammary Lipopolysaccharide.International journal of molecular sciences · 2019Article
- Streamlining the chemoenzymatic synthesis of complex N-glycans by a stop and go strategy.Nature chemistry · 2019Article
- Precursor ion survival energies of protonated N-glycopeptides and their weak dependencies on high mannose N-glycan composition in collision-induced dissociation.The Analyst · 2018Article
- Reanalysis of Global Proteomic and Phosphoproteomic Data Identified a Large Number of Glycopeptides.Analytical chemistry · 2018Article
- Analytical Scheme Leading to Integrated High-Sensitivity Profiling of Glycosphingolipids Together with N- and O-Glycans from One Sample.Journal of the American Society for Mass Spectrometry · 2018Article
- Article
- Harnessing cancer cell metabolism for theranostic applications using metabolic glycoengineering of sialic acid in breast cancer as a pioneering example.Biomaterials · 2017Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 2 institutions in 2 countries.
Funding
Abstract
About 250 to 500 glycogenes (genes that are directly involved in glycan assembly) are in the human genome representing about 1-2% of the total genome. Over 40 human congenital diseases associated with glycogene mutations have been described to date. It is almost certain that the causative glycogene mutations for many more congenital diseases remain to be discovered. Some glycogenes are involved in the synthesis of only a specific protein and/or a specific class of glycan whereas others play a role in the biosynthesis of more than one glycan class. Mutations in the latter type of glycogene result in complex clinical phenotypes that present difficult diagnostic problems to the clinician. In order to understand in biochemical terms the clinical signs and symptoms of a patient with a glycogene mutation, one must understand how the glycogene works. That requires, first of all, determination of the target protein or proteins of the glycogene followed by an understanding of the role, if any, of the glycogene-dependent glycan in the functions of the protein. Many glycogenes act on thousands of glycoproteins. There are unfortunately no general methods to identify all the potentially large number of glycogene target proteins and which of these proteins are responsible for the mutant phenotypes. Whereas biochemical methods have been highly successful in the discovery of glycogenes responsible for many congenital diseases, it has more recently been necessary to use other methods such as homozygosity mapping. Accurate diagnosis of many recently discovered diseases has become difficult and new diagnostic procedures must be developed. Last but not least is the lack of effective treatment for most of these children and of animal models that can be used to test new therapies.
Indexed as
Identifiers
What OpenQuestion holds
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.