| http://purl.uniprot.org/citations/26733289 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/26733289 | http://www.w3.org/2000/01/rdf-schema#comment | "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."xsd:string |
| http://purl.uniprot.org/citations/26733289 | http://purl.org/dc/terms/identifier | "doi:10.1038/ejhg.2015.254"xsd:string |
| http://purl.uniprot.org/citations/26733289 | http://purl.uniprot.org/core/author | "Stephens K."xsd:string |
| http://purl.uniprot.org/citations/26733289 | http://purl.uniprot.org/core/author | "Moss C."xsd:string |
| http://purl.uniprot.org/citations/26733289 | http://purl.uniprot.org/core/author | "Knerr I."xsd:string |
| http://purl.uniprot.org/citations/26733289 | http://purl.uniprot.org/core/author | "Fitzgibbon M."xsd:string |
| http://purl.uniprot.org/citations/26733289 | http://purl.uniprot.org/core/author | "Treacy E."xsd:string |
| http://purl.uniprot.org/citations/26733289 | http://purl.uniprot.org/core/author | "Foley P."xsd:string |
| http://purl.uniprot.org/citations/26733289 | http://purl.uniprot.org/core/author | "Stockmann H."xsd:string |
| http://purl.uniprot.org/citations/26733289 | http://purl.uniprot.org/core/author | "van Erven B."xsd:string |
| http://purl.uniprot.org/citations/26733289 | http://purl.uniprot.org/core/author | "Rudd P."xsd:string |
| http://purl.uniprot.org/citations/26733289 | http://purl.uniprot.org/core/author | "Doran P."xsd:string |
| http://purl.uniprot.org/citations/26733289 | http://purl.uniprot.org/core/author | "Maratha A."xsd:string |
| http://purl.uniprot.org/citations/26733289 | http://purl.uniprot.org/core/author | "McVeigh T.P."xsd:string |
| http://purl.uniprot.org/citations/26733289 | http://purl.uniprot.org/core/author | "Colhoun H.O."xsd:string |
| http://purl.uniprot.org/citations/26733289 | http://purl.uniprot.org/core/author | "Coss K.P."xsd:string |
| http://purl.uniprot.org/citations/26733289 | http://purl.uniprot.org/core/author | "Estela Rubio-Gozalbo M."xsd:string |
| http://purl.uniprot.org/citations/26733289 | http://purl.uniprot.org/core/date | "2016"xsd:gYear |
| http://purl.uniprot.org/citations/26733289 | http://purl.uniprot.org/core/name | "Eur J Hum Genet"xsd:string |
| http://purl.uniprot.org/citations/26733289 | http://purl.uniprot.org/core/pages | "976-984"xsd:string |
| http://purl.uniprot.org/citations/26733289 | http://purl.uniprot.org/core/title | "Classical galactosaemia: novel insights in IgG N-glycosylation and N-glycan biosynthesis."xsd:string |
| http://purl.uniprot.org/citations/26733289 | http://purl.uniprot.org/core/volume | "24"xsd:string |
| http://purl.uniprot.org/citations/26733289 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/26733289 |
| http://purl.uniprot.org/citations/26733289 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/26733289 |