Classical galactosaemia: novel insights in IgG N-glycosylation and N-glycan biosynthesis
| Autor: | Peter Doran, Catherine Moss, Karen P. Coss, Ina Knerr, Pauline M. Rudd, Maria Fitzgibbon, M. Estela Rubio-Gozalbo, Henning Stöckmann, Kelly Stephens, Britt van Erven, Ashwini Maratha, Patricia Foley, Eileen P. Treacy, Hugh Owen Colhoun, Terri P. McVeigh |
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| Přispěvatelé: | RS: GROW - R4 - Reproductive and Perinatal Medicine, Kindergeneeskunde, MUMC+: MA Medische Staf Kindergeneeskunde (9), Promovendi ODB |
| Jazyk: | angličtina |
| Rok vydání: | 2016 |
| Předmět: |
Adult
Galactosemias Male 0301 basic medicine Glycan Glycosylation Adolescent N-Acetylglucosaminyltransferases Mannosyltransferases Peripheral blood mononuclear cell Article Monocytes Immunoglobulin G 03 medical and health sciences chemistry.chemical_compound 0302 clinical medicine N-linked glycosylation Polysaccharides Genetics medicine Humans Genetics (clinical) biology Galactosemia Case-control study Membrane Proteins medicine.disease Pathophysiology carbohydrates (lipids) 030104 developmental biology chemistry Case-Control Studies Immunology biology.protein Female Protein Processing Post-Translational Biomarkers 030217 neurology & neurosurgery |
| Zdroj: | European Journal of Human Genetics, 24(7), 976-984. Nature Publishing Group |
| ISSN: | 1476-5438 1018-4813 |
| Popis: | 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 |
| Databáze: | OpenAIRE |
| Externí odkaz: |
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