Publications
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.
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.
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.
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.
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.