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-Kozicz, François Foulquier

Research output: Contribution to journalArticle

2 Citations (Scopus)

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)
JournalElectrophoresis
DOIs
StateAccepted/In press - Jan 1 2018
Externally publishedYes

Fingerprint

Congenital Disorders of Glycosylation
Glycosylation
Glycoside Hydrolases
Mannosidases
Acetylglucosaminidase
Mannose
Polysaccharides
Lipids
Serum
Defects

Keywords

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

ASJC Scopus subject areas

  • Analytical Chemistry
  • Biochemistry
  • Clinical Biochemistry

Cite this

Duvet, S., Mouajjah, D., Péanne, R., Matthijs, G., Raymond, K., Jaeken, J., ... Foulquier, F. (Accepted/In press). Use of Endoglycosidase H as a diagnostic tool for MAN1B1-CDG patients. Electrophoresis. https://doi.org/10.1002/elps.201800020

Use of Endoglycosidase H as a diagnostic tool for MAN1B1-CDG patients. / Duvet, Sandrine; Mouajjah, Dounia; Péanne, Romain; Matthijs, Gert; Raymond, Kimiyo; Jaeken, Jaak; Morava-Kozicz, Eva; Foulquier, François.

In: Electrophoresis, 01.01.2018.

Research output: Contribution to journalArticle

Duvet, S, Mouajjah, D, Péanne, R, Matthijs, G, Raymond, K, Jaeken, J, Morava-Kozicz, E & Foulquier, F 2018, 'Use of Endoglycosidase H as a diagnostic tool for MAN1B1-CDG patients', Electrophoresis. https://doi.org/10.1002/elps.201800020
Duvet S, Mouajjah D, Péanne R, Matthijs G, Raymond K, Jaeken J et al. Use of Endoglycosidase H as a diagnostic tool for MAN1B1-CDG patients. Electrophoresis. 2018 Jan 1. https://doi.org/10.1002/elps.201800020
Duvet, Sandrine ; Mouajjah, Dounia ; Péanne, Romain ; Matthijs, Gert ; Raymond, Kimiyo ; Jaeken, Jaak ; Morava-Kozicz, Eva ; Foulquier, François. / Use of Endoglycosidase H as a diagnostic tool for MAN1B1-CDG patients. In: Electrophoresis. 2018.
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