Publications

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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

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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

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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

 

N-Glycosylation deficiency reduces the activation of protein C and disrupts the endothelial barrier integrity.
Tiffany Pascreau, François Saller, Elsa P. Bianchini, Dominique Lasne, Arnaud Bruneel, Christelle Reperant, François Foulquier, Cécile V. Denis, Pascale De Lonlay, Delphine Borgel.

Thrombosis and Haemostasis. 2022

DOI: 10.1055/s-0042-1744378

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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

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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

 

Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculo-skeletal findings.

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

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Inherited proteoglycan biosynthesis defects - Current laboratory tools and Bikunin as a promising blood biomarker.

Walid Haouari, Johanne Dubail, Christian Poüs, Valérie Cormier‐Daire and Arnaud Bruneel

Genes. 2021.

DOI: 10.3390/genes12111654

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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

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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

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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

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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

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A Mutation in SLC37A4 causes a Dominantly Inherited Congenital Disorder of Glycosylation Characterized by Liver Dysfunction.

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

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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

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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

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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

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Elevated thrombin generation in patients with congenital disorder of glycosylation and combined coagulation factor deficiencies.

​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

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Dilated cardiomyopathy and limb-girdle muscular dystrophy-dystroglycanopathy due to novel pathogenic variants in the DPM3 gene.

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

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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

 

Novel variants and clinical symptoms in four new ALG3-CDG patients, review of the literature, and identification of AAGRP-ALG3 as a novel ALG3 variant with alanine and glycine-rich N-terminus.

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

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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

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SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta mediated by GAG biosynthesis defects.

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

 

A mutation in the gene coding for the sialic acid transporter SLC35A1 is required for platelet life span but not proplatelet formation.

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

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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

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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.

 

Clinical, laboratory and molecular findings and long-term follow-up data in 96 French patients with PMM2-CDG (phosphomannomutase 2-congenital disorder of glycosylation) and review of the literature.

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.

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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.

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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.

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[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.

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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.

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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.

 

Two dimensional gel electrophoresis of apolipoprotein C-III and MALDI-TOF MS are complementary techniques

for the study of combined defects in N- and mucin type O-glycan biosynthesis.

Arnaud Bruneel, Willy Morelle, Yoann Carre, Florence Habarou, Damien Dupont, Aurélie Hesbert, Geneviève Durand, Jean Claude Michalski, Valérie Drouin-Garraud and Nathalie Seta.

Proteomics Clin. Appl. 2008.

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Two-dimensional gel electrophoresis of apolipoprotein C-III and other serum glycoproteins for the combined

screening of human congenital disorders of O- and N-glycosylation.

Arnaud Bruneel, Tiphaine Robert, Dirk J. Lefeber, Guillaume Benard, Emilie Loncle, Amel Djedour, Geneviève Durand and Nathalie Seta.

Proteomics Clin. Appl. 2007.

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[Inherited disorders of protein glycosylation]. French

Dupré T, Lavieu G, Moore S, Seta N.

Med Sci (Paris). 2004.

DOI: 10.1051/medsci/2004203331.

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Congenital disorders of glycosylation type Ig is defined by a deficiency in dolichyl-P-mannose:Man7GlcNAc2-PP-dolichyl mannosyltransferase.

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.

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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.