Medical laboratory centre of expertise on Congenital Disorders of Glycosylation and Glycosylated ferritin
Publications
Biochemical diagnosis of congenital disorders of glycosylation
Alexandre Raynor, Walid Haouari, Elodie Lebredonchel, François Foulquier, François Fenaille and Arnaud Bruneel
Advances in Clinical Chemistry 2024
DOI: 10.1016/bs.acc.2024.03.001
[Transferrine désialylée]. French
A. Raynor, E. Lebredonchel, A. Bruneel
EMC - Biologie médicale 2023
[Article 90-10-1055-B]
DOI: 10.1016/S2211-9698(23)43515-7
Efficacy of oral manganese and D-galactose therapy in a patient bearing a novel TMEM165 variant
Zoé Durin, Alexandre Raynor, François Fenaille, Sophie Cholet, Sandrine Vuillaumier-Barrot, Jean-Meidi Alili, Joël, Poupon, Nouzha Djebrani-Oussedik, Caroline Tuchmann-Durand, Jennifer Attali, Romain Touzé, Thierry Dupré, Elodie Lebredonchel, Marlyse Angah-Akaffou, Dominique Legrand, Pascale de Lonlay, Arnaud Bruneel, François Foulquier
Translational Research 2023
DOI: 10.1016/j.trsl.2023.11.005
Sweet ending: When genetics prevent a dramatic CDG diagnostic mistake
Antoine Civit, Paul Guenen, Hélène Blasco, Isabelle Benz-de-Bretagne, Élodie Lebredonchel, Giulia Dingeo, Médéric Jeanne, Sophie Rouxel, Marine Tardieu, Alexandre Raynor, François Labarthe, Arnaud Bruneel, Violette Goetz
Clinica Chimica Acta 2023
DOI: 10.1016/j.cca.2023.117620
"Hide and seek": Misleading transferrin variants in PMM2-CDG complicate diagnostics
Alexandre Raynor, Arnaud Bruneel, Pieter Vermeersch, Sophie Cholet, Sebastian Friedrich, Matthias Eckenweiler, Anke Schumann, Simone Hengst, Ali Tunç Tuncel, François Fenaille, Christian Thiel, Daisy Rymen.
Proteomics Clinical Applications 2023
DOI: 10.1002/prca.202300040
Association between acute complications in PMM2-CDG patients and haemostasis anomalies: Data from a multicentric study and suggestions for acute management
Camille Wicker, Charles-Joris Roux, Louise Goujon, Yvan de Feraudy, Marie Hully, Anais Brassier, Claire-Marine Bérat, Nicole Chemaly, Arnaud Wiedemann, Lena Damaj, Marie-Thérèse Abi-Warde, Dries Dobbelaere, Agathe Roubertie, Aline Cano, Alina Arion, Anna Kaminska, Sabrina Da Costa, Arnaud Bruneel, Sandrine Vuillaumier-Barrot, Nathalie Boddaert, Tiffany Pascreau, Delphine Borgel, Manoelle Kossorotoff, Annie Harroche, Pascale de Lonlay.
Molecular Genetics and Metabolism 2023
DOI: 10.1016/j.ymgme.2023.107674
MAGT1 deficiency in XMEN disease is associated with severe platelet dysfunction and impaired platelet glycoprotein N-glycosylation
Alexandre Kauskot, Coralie Mallebranche, Arnaud Bruneel, François Fenaille, Jean Solarz, Toscane Viellard, Miao Feng, Christelle Repérant, Jean-Claude Bordet, Sophie Cholet, Cécile V. Denis, Geneviève McCluskey, Sylvain Latour, Emmanuel Martin, Isabelle Pellier, Dominique Lasne, Delphine Borgel, Sven Kracker, Alban Ziegler, Marie Tuffigo, Benjamin Fournier, Charline Miot, Frédéric Adam.
Journal of Thrombosis and Haemostasis 2023
DOI: 10.1016/j.jtha.2023.05.007
Hemostatic defects in congenital disorders of glycosylation
Tiffany Pascreau, Claire Auditeau, Delphine Borgel.
Research and Practice in Thrombosis and Haemostasis 2023
DOI: 10.1016/j.rpth.2023.100142
High CDT without clinical context: beware of the variant
Elodie Lebredonchel, Alexandre Raynor, Arnaud Bruneel, Katell Peoc'h, André Klein.
Clinica Chimica Acta 2023.
DOI:10.1016/j.cca.2023.117333
SORD-related peripheral neuropathy in a French and Swiss cohort: clinical features, genetic analysis and sorbitol dosage
Pons Nicolas, Gorka Fernández-Eulate, Antoine Pegat, Marie Théaudin, Guieu Régis, Paolo Ripellino, Devedjian Manon, Mace Patrick, Marion Masingue, Sarah Léonard-Louis, Philipe Petiot, Pauline Roche, Emilien Bernard, Bouchour Françoise, Good Jean-Marc, Annie Verschueren, Aude-Marie Grapperon, Emmanuelle Salort, Grosset Anaïs, Jean-Baptiste Chanson, Aleksandra Nadaj-Pakleza, Anne-Laure Bédat-Millet, Ariane Choumert, Barnier Anne, Hamdi Ghassen, Gaëtan Lesca, Prieur Fabienne, Bruneel Arnaud, Philippe Latour, Tanya Stojkovic, Shahram Attarian, Nathalie Bonello-Palot
European Journal of Neurology. 2023
DOI: 10.1111/ene.15793
Lab-in-droplet: From glycan sample treatment toward diagnostic screening of congenital disorders of glycosylation
Théo Liénard–Mayor, Camille Bricteux, Amel Bendali, Nguyet-Thuy Tran, Arnaud Bruneel, MyriamTaverna, Thanh Duc Mai.
Analytica Chimica Acta. 2022
DOI: 10.1016/j.aca.2022.340150
Increased carbohydrate deficient transferrin: Whisky or Candy?
B. Giguet, A. Bruneel, S. Vuillaumier-Barrot, R. Moirand, E. Bardou-Jacquet
Journal of Hepatology Reports. 2022
DOI: 10.1016/j.jhepr.2022.100494
Thrombosis and Haemostasis. 2022
DOI: 10.1055/s-0042-1744378
Measurement of glycosylated ferritin with Concanavalin A: Assay design, optimization and validation
Alexandre Raynor, Katell Peoc'h, Anne Boutten
Journal of Chromatography B. 2022
DOI: 10.1016/j.jchromb.2022.123184
Biallelic variants in SLC35B2 cause a novel chondrodysplasia with hypomyelinating leukodystrophy.
Alessandra Guasto, Johanne Dubail, Sergio Aguilera-Albesa, Chiara Paganini, Catherine Vanhulle, Walid Haouari, Nerea Gorría-Redondo, Elena Aznal-Sainz, Nathalie Boddaert, Laura Planas-Serra, Agatha Schlüter, Edgard Verdura, Arnaud Bruneel, Antonio Rossi, Céline Huber, Aurora Pujol, Valérie Cormier-Daire.
Brain. 2022.
DOI: 10.1093/brain/awac110
Matthew P Wilson, Alejandro Garanto, Filippo Pinto E Vairo F, Bobby G Ng, Wasantha K Ranatunga, Marina Ventouratou, Melissa Baerenfaenger, Karin Huijben, Christian Thiel, Angel Ashikov, Liesbeth Keldermans, Erika Souche, Sandrine Vuillaumier-Barrot, Thierry Dupré, Helen Michelakakis, Agata Fiumara, James Pitt, Sue White, Sze Chern Lim, Lyndon Gallacher, Heidi Peters, Daisy Rymen, Peter Witters, Antonia Ribes, Blai Morales-Romero, Agustí Rodríguez-Palmero, Diana Ballhausen, Pascale de Lonlay, Rita Barone, Mirian C H Janssen, Jaak Jaeken, Hudson H Freeze, Gert Matthijs, Eva Morava, Dirk J Lefeber.
The American Journal of Human Genetics. 2021.
DOI: 10.1016/j.ajhg.2021.09.012
Walid Haouari, Johanne Dubail, Christian Poüs, Valérie Cormier‐Daire and Arnaud Bruneel
Genes. 2021.
DOI: 10.3390/genes12111654
High sensitivity capillary electrophoresis with fluorescent detection for glycan mapping.
Théo Liénard-Mayor, Bin Yang, Nguyet Thuy Tran, Arnaud Bruneel, Andras Guttman, Myriam Taverna, Thanh Duc Mai.
Journal of Chromatography A. 2021.
DOI: 10.1016/j.chroma.2021.462593
[Reticular and Golgi glycosylation: Advances and associated diseases]. French
Sophie Groux-Degroote, François Foulquier, Sumeyye Cavdarli, Philippe Delannoy
Med Sci (Paris). 2021.
DOI: 10.1051/medsci/2021082
SLC37A4-CDG: new biochemical insights for an emerging congenital disorder of glycosylation with major coagulopathy.
Alexandre Raynor, Walid Haouari, Bobby G. Ng, Sophie Cholet, Annie Harroche, Celia Raulet-Bussian, Samra Lounis-Ouaras, Sandrine Vuillaumier-Barrot, Tiffany Pascreau, Delphine Borgel, Hudson H. Freeze, François Fenaille, Arnaud Bruneel.
Clinica Chimica Acta 2021.
DOI: 10.1016/j.cca.2021.07.005
MAN1B1-CDG: three new individuals and associated biochemical profiles.
Soraya Sakhi, Sophie Cholet, Samer Wehbi, Bertrand Isidor, Benjamin Cogne, Sandrine Vuillaumier-Barrot, Thierry Dupré, Trost Detleft, Emmanuelle Schmitt, Bruno Leheup, Céline Bonnet, François Feillet, Christine Muti, François Fenaille and Arnaud Bruneel.
Mol Genet Metab Reports. 2021.
DOI: 10.1016/j.ymgmr.2021.100775
Normal transferrin patterns in congenital disorders of glycosylation with Golgi homeostasis disruption: apolipoprotein C-III at the rescue!
Alexandre Raynor, Catherine Vincent-Delorme, Anne-Sophie Alaix, Sophie Cholet, Thierry Dupré, Sandrine Vuillaumier-Barrot, François Fenaille, Claude Besmond, Arnaud Bruneel.
Clinica Chimica Acta 2021.
DOI: 10.1016/j.cca.2021.05.016
Ng B, Sosicka P, Fenaille F, Harroche A, Vuillaumier-Barrot S, Porterfield M, Xia Z, Wagner S, Bamshad MJ, Vergnes-Boiteux MC, Cholet S, Dalton S, Dell A, Dupré T, Fiore M, Haslam SM, Huguenin Y, Kumagai T, Kulik M, McGoogan K, Michot C, Nickerson DA, Pascreau T, Borgel D, Raymond K, Warad D, University of Washington Center for Mendelian Genomics (UW-CMG), Flanagan-Steet H, Steet R, Tiemeyer M, Seta N, Bruneel A, Freeze H.
The American Journal of Human Genetics 2021.
DOI: 10.1016/j.ajhg.2021.04.013
Capillary zone electrophoresis of transferrin and EDTA samples in congenital disorders of glycosylation screening: CaNOt do, really?
Alexandre Raynor, Célia Raulet-Bussian, Léa Verel, Gregory Plouviez, Arnaud Bruneel.
Clinica Chimica Acta 2021.
DOI: 10.1016/j.cca.2021.04.013
Expanding the phenotype of X-linked SSR4-CDG: connective tissue implications.
Castiglioni C, Feillet F, Barnerias C, Wiedemann A, Muchart J, Cortes F, Hernando-Davalillo C, Montero R, Dupré T, Bruneel A, Seta N, Vuillaumier-Barrot S, Serrano M.
Hum Mutat. 2021.
DOI: 10.1002/humu.24151
[Panorama on congenital disorders of glycosylation (CDG): from 1980 to 2020]. French
Houdou M, Foulquier F.
Med Sci (Paris). 2020.
DOI: 10.1051/medsci/2020128
Long term outcome of MPI‐CDG patients on D‐mannose therapy.
Girard M, Douillard C, Debray D, Lacaille F, Schiff M, Vuillaumier‐Barrot S, Dupré T, Fabre M, Damaj L, Kuster A, Torre S, Mention K, McLin V, Dobbelaere D, Borgel D, Bauchard E, Seta N, Bruneel A, De Lonlay P.
J Inherit Metab Dis. 2020.
DOI: 10.1002/jimd.12289
Serum bikunin isoforms in congenital disorders of glycosylation and linkeropathies.
Haouari W, Dubail J, Lounis-Ouaras S, Prada P, Bennani R, Roseau C, Huber C, Afenjar A, Colin E, Vuillaumier-Barrot S, Seta N, Foulquier F, Poüs C, Cormier-Daire V, Bruneel A.
J Inherit Metab Dis. 2020.
DOI: 10.1002/jimd.12291
CDG biochemical screening: where do we stand?
Bruneel A, Cholet S , Tran-Maignan T, Mai DT, Fenaille F.
Biochim Biophys Acta Gen Subj 2020.
DOI: 10.1016/j.bbagen.2020.129652
Consensus guideline for the diagnosis and management of mannose phosphate isomerase-congenital disorder of glycosylation (MPI-CDG).
Čechová A, Altassan R, Borgel D, Bruneel A, Correia J, Girard M, Harroche A, Kiec-Wilk B, Mohnike K, Pascreau T, Pawliński Ł, Radenkovic S, Vuillaumier-Barrot S, Aldamiz-Echevarria L, Couce ML, Martins EG, Quelhas D, Morava E, de Lonlay P, Witters P, Honzík T.
J Inherit Metab Dis. 2020,
DOI: 10.1002/jimd.12241
Integrating mass spectrometry-based plasma (or serum) protein N-glycan profiling into the clinical practice?
Bruneel A, Fenaille F.
Ann. Transl. Med. 2019.
DOI: 10.21037/atm.2019.08.04
International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up.
Altassan R, Péanne R, Jaeken J, Barone R, Bidet M, Borgel D, Brasil S, Cassiman D, Cechova A, Coman D, Corral J, Correia J, de la Morena-Barrio ME, de Lonlay P, Dos Reis V, Ferreira CR, Fiumara A, Francisco R, Freeze H, Funke S, Gardeitchik T, Gert M, Girad M, Giros M, Grünewald S, Hernández-Caselles T, Honzik T, Hutter M, Krasnewich D, Lam C, Lee J, Lefeber D, Marques-de-Silva D, Martinez AF, Moravej H, Õunap K, Pascoal C, Pascreau T, Patterson M, Quelhas D, Raymond K, Sarkhail P, Schiff M, Seroczyńska M, Serrano M, Seta N, Sykut-Cegielska J, Thiel C, Tort F, Vals MA, Videira P, Witters P, Zeevaert R, Morava E.
J Inherit Metab Dis. 2019.
DOI: 10.1002/jimd.12024
Pascreau T, de la Morena-Barrio ME, Lasne D, Serrano M, Bianchini E, Kossorotoff M, Boddaert N, Bruneel A, Seta N, Vicente V, de Lonlay P, Corral J, Borgel D.
J Thromb Haemost. 2019.
DOI: 10.1111/jth
Svahn J, Laforêt P, Vial C, Streichenberger N, Romero N, Bouchet-Séraphin C, Bruneel A, Dupré T, Seta N, Menassa R, Michel-Calemard L, Stojkovic T.
Neuromuscul Disord. 2019.
DOI: 10.1016/j.nmd
Long-term follow-up in PMM2-CDG: are we ready to start treatment trials?
Witters P, Honzik T, Bauchart E, Altassan R, Pascreau T, Bruneel A, Vuillaumier S, Seta N, Borgel D, Matthijs G, Jaeken J, Meersseman W, Cassiman D, Pascale de Lonlay, Morava E.
Genet Med. 2019.
DOI: 10.1038/s41436-018-0301-4
Himmelreich N, Dimitrov B, Geiger V, Zielonka M, Hutter AM, Beedgen L, Hüllen A, Breuer M, Peters V, Thiemann KC, Hoffmann GF, Sinning I, Dupré T, Vuillaumier-Barrot S, Barrey C, Denecke J, Kölfen W, Düker G, Ganschow R, Lentze MJ, Moore S, Seta N, Ziegler A, Thiel C.
Hum Mutat. 2019.
DOI: 10.1002/humu.23764
Wide clinical spectrum in ALG8-CDG: clues from molecular findings suggest an explanation for a milder phenotype in the first-described patient.
Vuillaumier-Barrot S, Schiff M, Mattioli F, Schaefer E, Dupont A, Dancourt J, Dupré T, Couvineau A, de Baulny HO, de Lonlay P, Seta N, Moore S, Chantret I.
Pediatr. Res. 2019.
DOI: 10.1038/s41390-018-0231-5
Dubail J, Huber C, Chantepie S, Sonntag S, Tüysüz B, Mihci E, Gordon CT, Steichen-Gersdorf E, Amiel J, Nur B, Stolte-Dijkstra I, van Eerde AM, van Gassen KL, Breugem CC, Stegmann A, Lekszas C, Maroofian R, Karimiani EG, Bruneel A, Seta N, Munnich A, Papy-Garcia D, De La Dure-Molla M, Cormier-Daire V.
Nature Communications. 2018.
DOI: 10.1038/s41467-018-05191-8.
A capillary zone electrophoresis method for detection of apolipoprotein C-III glycoforms and other related artifactually modified species.
Coralie Ruel, Marco Morani, Arnaud Bruneel, Christophe Junot, Myriam Taverna, François Fenaille, Nguyet Thuy Tran.
J Chromatogr. A. 2018.
DOI: 10.1016/j.chroma.2017.12.002
Kauskot A, Pascreau T, Adam F, Bruneel A, Reperant C, Lourenco-Rodrigues MD, Rosa JP, Petermann R, Maurey H, Auditeau C, Lasne D, Denis CV, Bryckaert M, de Lonlay P, Lavenu-Bombled C, Melki J, Borgel D.
Haematologica. 2018.
DOI: 10.3324/haematol.2018.198028
Serum bikunin is a biomarker of linkeropathies.
Bruneel A, Dubail J, Roseau C, Prada P, Haouari W, Huber C, Dupré T, Poüs C, Cormier-Daire V, Seta N.
Clinica Chimica Acta 2018.
DOI: 10.1016/j.cca.2018.06.044
Complementarity of electrophoretic, mass spectrometric and gene sequencing techniques for the diagnosis and characterization of congenital disorders of glycosylation.
Bruneel A, Cholet S, Drouin-Garraud V, Jacquemont ML, Cano A, Megarbané A, Ruel C, Cheillan D, Dupré T, Vuillaumier-Barrot S, Seta N and Fenaille F.
Electrophoresis. 2018.
DOI: 10.1002/elps.201800021
CCDC115-CDG: a new rare and misleading inherited cause of liver disease.
Girard M, Poujois A, Fabre M, Lacaille F, Debray D, Rio M, Fenaille F, Cholet S, Ruel C, Caussé E, Selves J, Bridoux-Henno L, Woimant F, Dupré T, Vuillaumier-Barrot S, Seta N, Alric L, de Lonlay P and Bruneel A.
Mol. Genet. Metab. 2018.
Schiff M, Roda C, Monin ML, Arion A, Barth M, Bednarek N, Bidet M, Bloch C, Boddaert N, Borgel D, Brassier A, Brice A, Bruneel A, Buissonnière R, Chabrol B, Chevalier MC, Cormier-Daire V, De Barace C, De Maistre E, De Saint-Martin A, Dorison N, Drouin-Garraud V, Dupré T, Echenne B, Edery P, Feillet F, Fontan I, Francannet C, Labarthe F, Gitiaux C, Héron D, Hully M, Lamoureux S, Martin-Coignard D, Mignot C, Morin G, Pascreau T, Pincemaille O, Polak M, Roubertie A, Thauvin-Robinet C, Toutain A, Viot G, Vuillaumier-Barrot S, Seta N, De Lonlay P.
J Med Genet. 2017.
DOI: 10.1136/jmedgenet-2017-104903.
Two dimensional electrophoresis highlights haptoglobin beta chain as an additional biomarker of congenital disorders of glycosylation.
Bruneel A, Habarou F, Stojkovic T, Plouviez G, Bougas L, Guillemet F, Brient N, Henry D, Dupré T, Vuillaumier-Barrot S and Seta N.
Clinica Chimica Acta 2017.
DOI: 10.1016/j.cca.2017.04.022.
A case of fatal Type I congenital disorders of glycosylation (CDG I) associated with low dehydrodolichol diphosphate synthase (DHDDS) activity.
Sabry S, Vuillaumier-Barrot S, Mintet E, Fasseu M, Valayannopoulos V, Héron D, Dorison N, Mignot C, Seta N, Chantret I, Dupré T, Moore SE.
Orphanet J Rare Dis. 2016.
DOI: 10.1186/s13023-016-0468-1.
[Genes of alpha-dystroglycanopathies in 2016]. French
Bouchet-Séraphin C, Chelbi-Viallon M, Vuillaumier-Barrot S, Seta N.
Med Sci (Paris). 2016, 32 Hors série n°2:40-45.
DOI: 10.1051/medsci/201632s210
MALDI-TOF MS applied to apoC-III glycoforms of patients with congenital disorders affecting O-glycosylation. Comparison with two-dimensional electrophoresis.
Yen-Nicolaÿ S, Boursier C, Rio M, Lefeber DJ, Pilon A, Seta N and Bruneel A.
Proteomics Clin. Appl. 2015.
Impact of imiglucerase on the serum glycosylated-ferritin level in Gaucher disease
Stirnemann J, Boutten A, Vincent C, Mekinian A, Heraoui D, Fantin B, Fain O, Mentré F, Belmatoug
Blood Cells Mol Dis. 2011.
DOI: 10.1016/j.bcmd.2010.10.014.
Guanosine diphosphate-mannose:GlcNAc2-PP-dolichol mannosyltransferase deficiency (congenital disorders of glycosylation type Ik): five new patients and seven novel mutations.
Dupré T, Vuillaumier-Barrot S, Chantret I, Sadou Yayé H, Le Bizec C, Afenjar A, Altuzarra C, Barnérias C, Burglen L, de Lonlay P, Feillet F, Napuri S, Seta N, Moore SE.
J Med Genet. 2010.
DOI: 10.1136/jmg.2009.072504.
for the study of combined defects in N- and mucin type O-glycan biosynthesis.
screening of human congenital disorders of O- and N-glycosylation.
[Inherited disorders of protein glycosylation]. French
Dupré T, Lavieu G, Moore S, Seta N.
Med Sci (Paris). 2004.
DOI: 10.1051/medsci/2004203331.
Chantret I, Dupré T, Delenda C, Bucher S, Dancourt J, Barnier A, Charollais A, Heron D, Bader-Meunier B, Danos O, Seta N, Durand G, Oriol R, Codogno P, Moore SE.
J Biol Chem. 2002.
Diagnostic value of Western-blotting in carbohydrate-deficient glycoprotein syndrome.
Seta N, Barnier A, Hochedez F, Besnard MA and Durand G.
Clinica Chimica Acta 1996.