Ontology highlight
ABSTRACT:
SUBMITTER: Demus D
PROVIDER: S-EPMC8966479 | biostudies-literature | 2022 Mar
REPOSITORIES: biostudies-literature
Demus Daniel D Urbanowicz Paulina A PA Gardner Richard A RA Wu Haiyang H Juszczak Agata A Štambuk Tamara T Medvidović Edita Pape EP Owen Katharine R KR Gornik Olga O Juge Nathalie N Spencer Daniel I R DIR
Glycobiology 20220301 3
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-t ...[more]