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Wando Mount Pleasant Library
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Village Library
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Otranto Road Library
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Dorchester Road Library
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Development of an exoglycosidase plate-based assay for detecting α1-3,4 fucosylation biomarker in individuals with HNF1A-MODY.
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- Author(s): 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
- Source:
Glycobiology; Mar2022, Vol. 39 Issue 3, p230-238, 9p- Subject Terms:
- Source:
- Additional Information
- Abstract: 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 with damaging HNF1A variants, as demonstrated by receiver operating characteristic curve analysis with the AUC values of 0.87 and 0.95. This study supports future development of a simple diagnostic test to measure this glycan biomarker for application in a clinical setting. [ABSTRACT FROM AUTHOR]
- Abstract: Copyright of Glycobiology is the property of Oxford University Press / USA and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
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