ArticleEuropean journal of human genetics : EJHG2016
Classical galactosaemia: novel insights in IgG N-glycosylation and N-glycan biosynthesis.
Article in European journal of human genetics : EJHG, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.
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Who cites it
27 citing papers in PubMed, 46 citations in OpenAlex.
- Galactose tolerance in adults with classical galactosaemia. Considering the gaps.Molecular genetics and metabolism reports · 2026Article
- Serum N-glycosylation is altered in Nephropathic Cystinosis.Glycobiology · 2025Article
- Galactokinase 1 is the source of elevated galactose-1-phosphate and cerebrosides are modestly reduced in a mouse model of classic galactosemia.JIMD reports · 2024Article
- The hypergonadotropic hypogonadism conundrum of classic galactosemia.Human reproduction update · 2023Article
- Multi-block data integration analysis for identifying and validating targeted N-glycans as biomarkers for type II diabetes mellitus.Scientific reports · 2022Article
- AbnormalJIMD reports · 2021Article
- Commentary: Galactosemia Diagnosis by Whole Exome Sequencing Later in Life.Movement disorders clinical practice · 2021Article
- Galactosemia: Towards Pharmacological Chaperones.Journal of personalized medicine · 2021Review
- Immunoglobulin G Glycosylation in Diseases.Experientia supplementum (2012) · 2021Article
- Automation of Immunoglobulin Glycosylation Analysis.Experientia supplementum (2012) · 2021Review
- Sialylated N-glycan profile during acute and chronic infections with Toxoplasma gondii in mice.Scientific reports · 2020Article
- Discovery of Novel Inhibitors Targeting Multi-UDP-hexose Pyrophosphorylases as Anticancer Agents.Molecules (Basel, Switzerland) · 2020Article
- Deep phenotyping classical galactosemia: clinical outcomes and biochemical markers.Brain communications · 2020Article
- Salubrinal enhances eIF2α phosphorylation and improves fertility in a mouse model of Classic Galactosemia.Biochimica et biophysica acta. Molecular basis of disease · 2019Article
- Insights into the Pathophysiology of Infertility in Females with Classical Galactosaemia.International journal of molecular sciences · 2019Review
- Identification of serum N-glycoproteins as a biological correlate underlying chronic stress response in mice.Molecular biology reports · 2019Article
- Fertility in classical galactosaemia, a study of N-glycan, hormonal and inflammatory gene interactions.Orphanet journal of rare diseases · 2018Article
- Impaired fertility and motor function in a zebrafish model for classic galactosemia.Journal of inherited metabolic disease · 2018Article
- Genome-Wide Association Study on Immunoglobulin G Glycosylation Patterns.Frontiers in immunology · 2018Article
- Sweet and sour: an update on classic galactosemia.Journal of inherited metabolic disease · 2017Review
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Authors and funding
15 authors at 7 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Classical galactosaemia (OMIM #230400), a rare disorder of carbohydrate metabolism, is caused by a deficient activity of galactose-1-phosphate uridyltransferase (EC 2.7.7.12). The pathophysiology of the long-term complications, mainly cognitive, neurological and female fertility problems remains poorly understood. The lack of validated biomarkers to determine prognosis, monitor disease progression and responses to new therapies, pose a huge challenge. We report the detailed analysis of an automated robotic hydrophilic interaction ultra-performance liquid chromatography N-glycan analytical method of high glycan peak resolution applied to serum IgG. This has revealed specific N-glycan processing defects observed in 40 adult galactosaemia patients (adults and adolescents), in comparison with 81 matched healthy controls. We have identified a significant increase in core fucosylated neutral glycans (P<0.0001) and a significant decrease in core fucosylated (P<0.001), non-fucosylated (P<0.0001) bisected glycans and, of specific note, decreased N-linked mannose-5 glycans (P<0.0001), in galactosaemia patients. We also report the abnormal expression of a number of related relevant N-glycan biosynthesis genes in peripheral blood mononuclear cells from 32 adult galactosaemia patients. We have noted significant dysregulation of two key N-glycan biosynthesis genes: ALG9 upregulated (P<0.001) and MGAT1 downregulated (P<0.01) in galactosaemia patients, which may contribute to its ongoing pathophysiology. Our data suggest that the use of IgG N-glycosylation analysis with matched N-glycan biosynthesis gene profiles may provide useful biomarkers for monitoring response to therapy and interventions. They also indicate potential gene modifying steps in this N-glycan biosynthesis pathway, of relevance to galactosaemia and related N-glycan biosynthesis disorders.
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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.