Use of Endoglycosidase H as a diagnostic tool for MAN1B1-CDG patients

Sandrine Duvet, Dounia Mouajjah, Romain Péanne, Gert Matthijs, Kimiyo Raymond, Jaak Jaeken, Eva Morava, François Foulquier

Research output: Contribution to journalArticle

4 Scopus citations

Abstract

Congenital disorders of glycosylation (CDG) are heterogeneous group of genetic protein and lipid glycosylation abnormalities. With some 33 reported patients, MAN1B1-CDG belongs to the more frequent causes of CDG-II. MAN1B1 encodes an α1,2-mannosidase that removes the terminal mannose residue from the middle branch. Several methods have been proposed to characterize the glycosylation changes. In MAN1B1-CDG, the abnormal accumulating N-glycan structures are mostly absent or found in trace amounts in total human serum. To overcome this issue, in this study, we present a straightforward procedure based on the use of Endo-β-N-acetylglucosaminidase H to easily diagnose MAN1B1-CDG patients and mannosidase defects.

Original languageEnglish (US)
Pages (from-to)3133-3141
Number of pages9
JournalELECTROPHORESIS
Volume39
Issue number24
DOIs
StatePublished - Dec 2018

Keywords

  • CDG
  • Endo-β-N-acetylglucosaminidase H
  • Glycomics
  • MAN1B1
  • N-Glycans

ASJC Scopus subject areas

  • Analytical Chemistry
  • Biochemistry
  • Clinical Biochemistry

Fingerprint Dive into the research topics of 'Use of Endoglycosidase H as a diagnostic tool for MAN1B1-CDG patients'. Together they form a unique fingerprint.

Cite this