Article
Development of an exoglycosidase plate-based assay for detecting α1-3,4 fucosylation biomarker in individuals with HNF1A-MODY.
Glycobiology - 30 Mar 2022
Demus Daniel, Urbanowicz Paulina A, Gardner Richard A, Wu Haiyang, Juszczak Agata, Štambuk Tamara, Medvidović Edita Pape, Owen Katharine R, Gornik Olga, Juge Nathalie, Spencer Daniel I R
Abstract excerpt
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...
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