Our research focuses on the understanding of the molecular mechanisms of glycoyslation and the study of genetic and biochemical abnormalities in a group of rare genetic diseases called Congenital Disorders of Glycosylation (CDGs). The first part of our research activity is devoted to the identification and characterization of unresolved congenital disorders of glycosylation. This part is carried out in collaboration with the leaders of the European group on CDGs and exploits to the maximum the synergies and the interdisciplinary expertise that the consortium can provide. The second part is clearly fundamental and takes advantage of recently discovered genetic defects (new types of CDGs, new ER/Golgi deficiencies), which brings us fundamental knowledge on the molecular mechanisms controlling glycosylation pathways - an essential condition to develop therapies and cure patients.
• Creation of cellular assays to analyze glycosylation capacities (N- and O-)
• Generation of deficient and stable cell lines
• Expression of recombinant glycoproteins
• Study of intravesicular trafficking by confocal microscopy
• Glycosylation analysis by metabolic labeling and mass spectrometry
• Glycanic analysis of N-, O- and glycolipids
• Analysis of reticular glycosylation (NLO, fOS and LLO)
• Study of the glycosylation capacity by click chemistry and visualization by confocal microscopy (Use of fluorescent sugars)
• Quantification of Mn by an ICP-MS approach
Example(s) of projects
• Identification and functional characterization of a new Golgi proteins involved in glycosylation.
• Establishment of an efficient Manganese-based treatment for some CDG patients.
• Establishment of a methodology to visualize glycosylation deficiency by a chemistry-click approach in cells of CDG patients.
Example(s) of publications
• Morelle, W., Potelle, S., Witters, P., Wong, S., Climer, L., Lupashin, V., Matthijs, G., Gadomski, T., Jaeken, J., Cassiman, D., Morava, E., and Foulquier, F. (2017) Galactose Supplementation in Patients With TMEM165-CDG Rescues the Glycosylation Defects. J. Clin. Endocrinol. Metab. 102, 1375–1386. 🡭
• Lebredonchel E, Houdou M, Hoffmann HH, Kondratska K, Krzewinski MA, Vicogne D, Rice CM, Klein A, Foulquier F. Investigating the functional link between TMEM165 and SPCA1. Biochem J. 2019 Nov 15;476(21):3281-3293. doi: 10.1042/BCJ20190488. PMID: 31652305. 🡭
• Blommaert E, Péanne R, Cherepanova NA, Rymen D, Staels F, Jaeken J, Race V, Keldermans L, Souche E, Corveleyn A, Sparkes R, Bhattacharya K, Devalck C, Schrijvers R, Foulquier F, Gilmore R, Matthijs G. Mutations in MAGT1 lead to a glycosylation disorder with a variable phenotype. Proc Natl Acad Sci U S A. 2019 May 14;116(20):9865-9870. doi: 10.1073/pnas.1817815116. Epub 2019 Apr 29. PMID: 31036665; PMCID: PMC6525510. 🡭
• Potelle S, Morelle W, Dulary E, Duvet S, Vicogne D, Spriet C, Krzewinski-Recchi MA, Morsomme P, Jaeken J, Matthijs G, De Bettignies G, Foulquier F. Glycosylation abnormalities in Gdt1p/TMEM165 deficient cells result from a defect in Golgi manganese homeostasis. Hum Mol Genet. 2016 Apr 15;25(8):1489-500. doi: 10.1093/hmg/ddw026. Epub 2016 Feb 1. PMID: 27008884. 🡭
University of Rouen, University of Paris Descartes, University of Nancy, Imagine
KULEUVEN, Institut De Duve, Charité, University of Arkansas, Yale University, LaJolla, Harvard University
- Education / Training
- Health / wellness
- Science / Research
• BSL2 cell culture rooms
• qPCR machines
• mass spectrometer
• biochip analyzer
• liquid chromatography systems
• particle size analyzer
• pipetting robot
• biacore T200; Biacore 3000
• all basic equipment (cell culture equipment, cell and molecular biology, ultracentrifuges, freeze-dryers, homogenizers, spectrophotometers, etc.).
To see the detailed list of equipment, refer to the profile of the STRUCTURAL AND FUNCTIONAL GLYCOBIOLOGY UNIT (UGSF) - UMR 8576 - https://www.pluginlabs-hautsdefrance.fr/en/entity/dca50749-5160-41c0-a814-eb8f6aea44ad/structural-and-functional-glycobiology-unit
Affiliated institutions / organisations
Unit(s) of attachment
Regional strategic areas of activity
- Health and Nutrition