• Health and Nutrition

Molecular mechanisms of N-glycosylation and associated pathologies

Research team

Description

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.

Contacts

  • François Foulquier
    Team manager

Informations

Bâtiment C9, Avenue Mendeleïev
Campus Cité Scientifique, Université de Lille
59655 VILLENEUVE D’ASCQ

http://ugsf-umr-glycobiologie.univ-lille1.fr/

Effectif

Effectif total : 9

Personnel de recherche : 7

Expertises

Skills

• Generation and use of glycosylation-deficient cell models
• 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 characterization of numerous new human genetic defects leading to CDG glycosylation pathologies.
• 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

• M. Houdou, E. Lebredonchel, A. Garat, S. Duvet, D. Legrand, V. Decool, A. Klein, M. Ouzzine, B. Gasnier, S. Potelle, F. Foulquier, Involvement of thapsigargin and cyclopiazonic acid–sensitive pumps in the rescue of TMEM165-associated glycosylation defects by Mn 2+, The FASEB Journal. (2018) fj.201800387R. doi:10.1096/fj.201800387R. 🡭
• 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. 🡭

Collaborations/Partners/Scientific clients

National:
University of Rouen, University of Paris Descartes, University of Nancy, Imagine

International:
KULEUVEN, Institut De Duve, Charité, University of Arkansas, Yale University, LaJolla, Harvard University

Services offers

Applications sectors

  • Health / wellness
  • Education / Training
  • Science / Research

Services provided

We are unable to offer any services at this time.

Consulting services

We provide consulting services related to all our areas of expertise (the analysis of glycosylation of glycoproteins).

Equipments

The STRUCTURAL AND FUNCTIONAL GLYCOBIOLOGY UNIT (UGSF) contributes to several technological platforms (Glycoconjugate Analysis Platform, Image and Signal Processing Platform for Biology, and Biomolecular Interaction Analysis Platform) and benefits from access to state-of-the-art equipment. In addition, our unit is equipped with:
• 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

Ecosystem

Affiliated institutions / organisations

University of Lille
CNRS

Unit(s) of attachment

Doctoral schools

Regional strategic areas of activity

  • Health and Nutrition

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Thematics

Current thematics

  • Health and Nutrition
Title

Current content

Molecular mechanisms of N-glycosylation and associated pathologies
Type

Current content

Research team
Description

Current content

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.
Contact informations
Contact

Current content

Contact name Email phone number
FOULQUIER François francois.foulquier@univ-lille.fr (+33) 3 20 43 49 97
URL

Current content

http://ugsf-umr-glycobiologie.univ-lille1.fr/

Address

Current content

Bâtiment C9, Avenue Mendeleïev
Campus Cité Scientifique, Université de Lille
59655 VILLENEUVE D’ASCQ
Keywords

Current content

Glycosylation, Human rare diseases, Intravesicular trafficking, Ion homeostasis, Manganese, Calcium, ERAD, UPR, degradation
Our search domains
Skills

Current content

• Generation and use of glycosylation-deficient cell models • 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
Workforce

Current content

Nombre de chercheurs : 7
Nombre de doctorants :
Nombre de personnel d'appui à la recherche :
Effectif total : 9
Example(s) of projects

Current content

• Identification and characterization of numerous new human genetic defects leading to CDG glycosylation pathologies. • 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

Current content

• M. Houdou, E. Lebredonchel, A. Garat, S. Duvet, D. Legrand, V. Decool, A. Klein, M. Ouzzine, B. Gasnier, S. Potelle, F. Foulquier, Involvement of thapsigargin and cyclopiazonic acid–sensitive pumps in the rescue of TMEM165-associated glycosylation defects by Mn 2+, The FASEB Journal. (2018) fj.201800387R. doi:10.1096/fj.201800387R. 🡭 • 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. 🡭
Collaborations/Partners/Scientific clients

Current content

National: University of Rouen, University of Paris Descartes, University of Nancy, Imagine International: KULEUVEN, Institut De Duve, Charité, University of Arkansas, Yale University, LaJolla, Harvard University
Collaborations/Partners/Private Clients

Current content

Services offers
Training offers

Current content

Services offers

Current content

We are unable to offer any services at this time.
Consulting services

Current content

We provide consulting services related to all our areas of expertise (the analysis of glycosylation of glycoproteins).
Equipments
Equipements spécifiques

Current content

The STRUCTURAL AND FUNCTIONAL GLYCOBIOLOGY UNIT (UGSF) contributes to several technological platforms (Glycoconjugate Analysis Platform, Image and Signal Processing Platform for Biology, and Biomolecular Interaction Analysis Platform) and benefits from access to state-of-the-art equipment. In addition, our unit is equipped with:
• 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
Ecosystem
Affiliated institutions / organisations

Current content

  • University of Lille
  • CNRS
Établissement(s) partenaire(s)

Current content

Unit(s) of attachment

Current content

  • Structural and Functional Glycobiology Unit
Groups/Networks/Federations

Current content

Doctoral schools

Current content

Equipex/EquipEx+/ESR

Current content

Competitive cluster

Current content

Regional strategic areas of activity

Current content

  • Health and Nutrition
Personal informations
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