作者
Daniel Demus, Paulina A Urbanowicz, Richard A Gardner, Haiyang Wu, Agata Juszczak, Tamara Štambuk, Edita Pape Medvidović, Katharine R Owen, Olga Gornik, Nathalie Juge, Daniel IR Spencer
发表日期
2022/3/1
期刊
Glycobiology
卷号
32
期号
3
页码范围
230-238
出版商
Oxford University Press
简介
Maturity-onset diabetes of the young due to hepatocyte nuclear factor-1 alpha variants (HNF1A-MODY) causes monogenic diabetes. Individuals carrying damaging variants in HNF1A show decreased levels of α1-3,4 fucosylation, as demonstrated on antennary fucosylation of blood plasma N-glycans. The excellent diagnostic performance of this glycan biomarker in blood plasma N-glycans of individuals with HNF1A-MODY has been demonstrated using liquid chromatography methods. Here, we have developed a high-throughput exoglycosidase plate-based assay to measure α1-3,4 fucosylation levels in blood plasma samples. The assay has been optimized and its validity tested using 1000 clinical samples from a cohort of individuals with young-adult onset diabetes including cases with HNF1A-MODY. The α1-3,4 fucosylation levels in blood plasma showed a good differentiating power in identifying cases …
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