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Physiopathogénèse et Traitement des maladies du foie

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Hepareg
  • Accueil
  • A propos
    • A propos
    • Plateformes et CHB
    • Mentions légales
  • Projets et équipes
    • Innovations thérapeutiques dans les malades du foie
    • Bioconstruction d’organoïdes hépatiques
    • Microbiote, Inflammation et Cancer
    • Mécanismes cellulaires de l’adaptation au stress
  • Publications
    • Publications - Équipe 1
    • Publications - Équipe 2
    • Publications - Équipe 3
    • Publications - Équipe 4
  • Actualités

Offre d'emploi

Equipe 4 - publications

Publications 2025

Clinique et fondamentale

N-glycan-dependent pro-inflammatory effects of IgM in anti-MAG Neuropathy
Neil J, Fenaille F, Bruneel A, Stojkovic T, Cholet S, Delmont E, Ober P, Amiot Q, Dorgham K, Viala-Bosc K, Ghillani-Dalbin P, Gorochov G, Sterlin D
Neurology: NeuroImmunology and NeuroInflammation NXI-2025-200028
Diagnostic biochimique des désordres congénitaux de la glycosylation
A. Raynor, F. Fenaille, E. Lebredonchel, F. Foulquier, A. Bruneel
EMC - Biologie médicale 2025 [Article 90-10-0270-B sous presse] 10.1016/S2211-9698(25)48375-7
Expanding the phenotype of SORD mutation
Pruvost R, Bruneel A, Dochez N, Kuchcinski G, Poinsignon V, Tard C
Brain 2025 Jun 9:awaf216. 10.1093/brain/awaf216
Diagnostic and Therapeutic Approaches in Congenital Disorders of Glycosylation.
Raynor A, Lebredonchel É, Foulquier F, Fenaille F, Bruneel A.
Handb Exp Pharmacol. 2025;288:211-241. 10.1007/164_2025_745.PMID: 40119203 Review.
Nicotinamide metabolism reprogramming drives reversible senescence of glioblastoma cells.
Narayanan A, Saurty-Seerunghen MS, Michieletto J, Delaunay V, Bruneel A, Dupré T, Ottolenghi C, Pontoizeau C, Ciccone L, De La Vara A, Idbaih A, Turchi L, Virolle T, Chneiweiss H, Junier MP, El-Habr EA.
Cell Mol Life Sci. 2025 Mar 21;82(1):126. 10.1007/s00018-025-05641-9.PMID: 40116940
A biallelic variant in GORASP1 causes a novel Golgipathy with glycosylation and mitotic defects.
Lebon S, Bruneel A, Drunat S, Albert A, Csaba Z, Elmaleh M, Ntorkou A, Ténier Y, Fenaille F, Gressens P, Passemard S, Boespflug-Tanguy O, Dorboz I, El Ghouzzi V.
Life Sci Alliance. 2025 Feb 11;8(4):e202403065. 10.26508/lsa.202403065. Print 2025 Apr.PMID: 39933924
The contribution of de novo coding mutations to meningomyelocele.
Ha YJ, Nisal A, Tang I, Lee C, Jhamb I, Wallace C, Howarth R, Schroeder S, Vong KI, Meave N, Jiwani F, Barrows C, Lee S, Jiang N, Patel A, Bagga K, Banka N, Friedman L, Blanco FA, Yu S, Rhee S, Jeong HS, Plutzer I, Major MB, Benoit B, Poüs C, Heffner C, Kibar Z, Bot GM, Northrup H, Au KS, Strain M, Ashley-Koch AE, Finnell RH, Le JT, Meltzer HS, Araujo C, Machado HR, Stevenson RE, Yurrita A, Mumtaz S, Ahmed A, Khara MH, Mutchinick OM, Medina-Bereciartu JR, Hildebrandt F, Melikishvili G, Marwan AI, Capra V, Noureldeen MM, Salem AMS, Issa MY, Zaki MS, Xu L, Lee JE, Shin D, Alkelai A, Shuldiner AR, Kingsmore SF, Murray SA, Gee HY, Miller WT, Tolias KF, Wallingford JB; Spina Bifida Sequencing Consortium; Kim S, Gleeson JG
Nature 2025 May;641(8062):419-426. 10.1038/s41586-025-08676-x
Diagnostic and therapeutic approaches in congenital disorders of glycosylation
A Raynor, E Lebredonchel, F Foulquier, F Fenaille, A Bruneel
Handbook of Experimental Pharmacology 2025 Mar 22. Chapter 745 10.1007/164_2025_745
A biallelic variant in GORASP1 causes a novel Golgipathy with glycosylation and mitotic defects
S Lebon, A Bruneel, S Drunat, A Albert, Z Csaba, M Elmaleh, A Ntorkou, Y Tenier, F Fenaille, P Gressens, S Passemard, O Boespflug-Tanguy, I Dorboz, V El Ghouzzi
Life Science Alliance 2025 Feb 11;8(4):e202403065. 10.26508/lsa.202403065

Publications 2024

Clinique et fondamentale

Biochemical diagnosis of congenital disorders of glycosylation.
A Raynor, W Haouari, E Lebredonchel, F Foulquier, F Fenaille, A Bruneel
Advances in Clinical Chemistry 2024:120:1-43. 10.1016/bs.acc.2024.03.001
Efficacy of oral manganese and D-galactose therapy in a patient bearing a novel TMEM165 variant.
Durin Z, Raynor A, Fenaille F, Cholet S, Vuillaumier-Barrot S, Alili JM, Poupon J, Oussedik ND, Tuchmann-Durand C, Attali J, Touzé R, Dupré T, Lebredonchel E, Akaffou MA, Legrand D, de Lonlay P, Bruneel A, Foulquier F.
Transl Res. 2024 Apr:266:57-67. 10.1016/j.trsl.2023.11.005
“Hide and seek": Misleading transferrin variants in PMM2-CDG complicate diagnostics.
Raynor A, Bruneel A, Vermeersch P, Cholet S, Friedrich S, Eckenweiler M, Schumann A, Hengst S, Tuncel AT, Fenaille F, Thiel C, Rymen D.
Proteomics Clin Appl. 2024 Mar;18(2):e2300040. 10.1002/prca.202300040

Publications 2023

Clinique et fondamentale

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 Nov 1:551:117620. 10.1016/j.cca.2023.117620
Association between acute complications in PMM2-CDG patients and haemostasis anomalies: Data from a multicentric study and suggestions for acute management.
Wicker C, Roux CJ, Goujon L, de Feraudy Y, Hully M, Brassier A, Bérat CM, Chemaly N, Wiedemann A, Damaj L, Abi-Warde MT, Dobbelaere D, Roubertie A, Cano A, Arion A, Kaminska A, Da Costa S, Bruneel A, Vuillaumier-Barrot S, Boddaert N, Pascreau T, Borgel D, Kossorotoff M, Harroche A, de Lonlay P.
Mol Genet Metab. 2023 Jul 31;140(3):107674. 10.1016/j.ymgme.2023.107674
MAGT1 deficiency in XMEN disease is associated with severe platelet dysfunction and impaired platelet glycoprotein N-glycosylation.
Kauskot A, Mallebranche C, Bruneel A, Fenaille F, Solarz J, Viellard T, Feng M, Repérant C, Bordet JC, Cholet S, Denis CV, McCluskey G, Latour S, Martin E, Pellier I, Lasne D, Borgel D, Kracker S, Ziegler A, Tuffigo M, Fournier B, Miot C, Adam F.
J Thromb Haemost. 2023 May 18:S1538-7836(23)00420-8. 10.1016/j.jtha.2023.05.007
High CDT without clinical context: Beware of the variant.
Lebredonchel E, Raynor A, Bruneel A, Peoc'h K, Klein A.
Clin Chim Acta. 2023 Apr 1;544:117333. 10.1016/j.cca.2023.117333
SORD-related peripheral neuropathy in a French and Swiss cohort: Clinical features, genetic analyses, and sorbitol dosages.
Pons N, Fernández-Eulate G, Pegat A, Théaudin M, Guieu R, Ripellino P, Devedjian M, Mace P, Masingue M, Léonard-Louis S, Petiot P, Roche P, Bernard E, Bouhour F, Good JM, Verschueren A, Grapperon AM, Salort E, Grosset A, Chanson JB, Nadaj-Pakleza A, Bédat-Millet AL, Choumert A, Barnier A, Hamdi G, Lesca G, Prieur F, Bruneel A, Latour P, Stojkovic T, Attarian S, Bonello-Palot N.
Eur J Neurol. 2023 Jul;30(7):2001-2011. 10.1111/ene.15793
Quantitation of 10 antibiotics in plasma: Sulfosalicylic acid combined with 2D-LC-MS/MS is a robust assay for beta-lactam therapeutic drug monitoring.
Palayer M, Chaussenery-Lorentz O, Boubekeur L, Urbina T, Maury E, Maubert MA, Pilon A, Bourgogne E.
J Chromatogr B Analyt Technol Biomed Life Sci. 2023 Apr 15;1221:123685. 10.1016/j.jchromb.2023.123685
Clinical performance of magnetic resonance imaging and biomarkers for prostate cancer diagnosis in men at high genetic risk.
Cussenot O, Renard-Penna R, Montagne S, Ondet V, Pilon A, Guechot J, Comperat E, Hamdy F, Lamb A, Cancel-Tassin G.
BJU Int. 2023 Jun;131(6):745-754. 10.1111/bju.15968
Reversible atransferrinemia in a patient with chronic enteropathy: is transferrin mandatory for iron transport?
Raynor A, Stefanescu C, Bruneel A, Puy H, Peoc'h K, Manceau H.
Biochem Med (Zagreb). 2023 Feb 15;33(1):010801. 10.11613/BM.2023.010801
Septins as membrane influencers: direct play or in association with other cytoskeleton partners.
Benoit B, Poüs C, Baillet A.
Front Cell Dev Biol. 2023 Feb 17;11:1112319. 10.3389/fcell.2023.1112319
Clinically relevant urine creatinine underestimation in the low concentration range on the Siemens Dimension Vista®.
Raynor A, Raulet-Bussian C, Robert-Mercier T, Bruneel A, Vidal-Petiot E, Flamant M, Boutten A.
Clin Biochem. 2023 Jan;111:87-90. 10.1016/j.clinbiochem.2022.10.013

Publications 2022

Clinique et fondamentale

N-Glycosylation Deficiency Reduces the Activation of Protein C and Disrupts Endothelial Barrier Integrity.
Pascreau T, Saller F, Bianchini EP, Lasne D, Bruneel A, Reperant C, Foulquier F, Denis CV, De Lonlay P, Borgel D.
Thromb Haemost. 2022 Sep;122(9):1469-1478. 10.1055/s-0042-1744378
Lab-in-droplet: From glycan sample treatment toward diagnostic screening of congenital disorders of glycosylation.
Liénard-Mayor T, Bricteux C, Bendali A, Tran NT, Bruneel A, Taverna M, Mai TD.
Anal Chim Acta. 2022 Aug 15;1221:340150. 10.1016/j.aca.2022.340150
V-ATPase is a universal regulator of LC3-associated phagocytosis and non-canonical autophagy.
Hooper KM, Jacquin E, Li T, Goodwin JM, Brumell JH, Durgan J, Florey O.
J Cell Biol. 2022 Jun 6;221(6):e202105112. 10.1083/jcb.202105112
Increased carbohydrate deficient transferrin: Whisky or candy?
Giguet B, Bruneel A, Vuillaumier Barrot S, Moirand R, Bardou Jacquet E.
JHEP Rep. 2022 Apr 20;4(7):100494. 10.1016/j.jhepr.2022.100494. eCollection 2022 Jul
α-Tubulin acetylation on Lysine 40 controls cardiac glucose uptake.
Renguet E, De Loof M, Fourny N, Ginion A, Bouzin C, Poüs C, Horman S, Beauloye C, Bultot L, Bertrand L.
Am J Physiol Heart Circ Physiol. 2022 Apr 29. 10.1152/ajpheart.00664.2021
Essential role of hyperacetylated microtubules in innate immunity escape orchestrated by the EBV-encoded BHRF1 protein.
Glon D, Vilmen G, Perdiz D, Hernandez E, Beauclair G, Quignon F, Berlioz-Torrent C, Maréchal V, Poüs C, Lussignol M, Esclatine A.
PLoS Pathog. 2022 Mar 11;18(3):e1010371. 10.1371/journal.ppat.1010371. eCollection 2022 Mar
Biallelic variants in SLC35B2 cause a novel chondrodysplasia with hypomyelinating leukodystrophy.
Guasto A, Dubail J, Aguilera-Albesa S, Paganini C, Vanhulle C, Haouari W, Gorría-Redondo N, Aznal-Sainz E, Boddaert N, Planas-Serra L, Schlüter A, Verdura E, Bruneel A, Rossi A, Huber C, Pujol A, Cormier-Daire V.
Brain. 2022 Mar 24:awac110. 10.1093/brain/awac110
Time-modulated excitation for enhanced single-molecule localization microscopy.
Jouchet P, Poüs C, Fort E, Lévêque-Fort S.
Philos Trans A Math Phys Eng Sci. 2022 Apr 4;380(2220):20200299. 10.1098/rsta.2020.0299
High levels of HPV16-L1 antibody but not HPV16 DNA load or integration predict oropharyngeal patient outcome: The Papillophar study.
Prétet JL, Dalstein V, Touzé A, Beby-Defaux A, Soussan P, Jacquin É, Birembaut P, Clavel C, Mougin C, Rousseau A, Lacau Saint Guily J; Papillophar Study Group.
Clin Exp Med. 2022 Feb 23. 10.1007/s10238-022-00796-2
[Precision intra-assay study in the absence of internal quality control: example of radioimmunoassay of procollagen III peptide].
Laudat A, Pilon A, Vaubourdolle M.
Ann Biol Clin (Paris). 2022 Feb 1;80(1):91-95. 10.1684/abc.2022.1700
Vitamin C improves microvascular reactivity and peripheral tissue perfusion in septic shock patients.
Lavillegrand JR, Raia L, Urbina T, Hariri G, Gabarre P, Bonny V, Bigé N, Baudel JL, Bruneel A, Dupre T, Guidet B, Maury E, Ait-Oufella H.
Crit Care. 2022 Jan 21;26(1):25. 10.1186/s13054-022-03891-8
CD4 T cell-intrinsic STING signaling controls the differentiation and effector functions of T H 1 and T H 9 cells.
Benoit-Lizon I, Jacquin E, Rivera Vargas T, Richard C, Roussey A, Dal Zuffo L, Martin T, Melis A, Vinokurova D, Shahoei SH, Baeza Garcia A, Pignol C, Giorgiutti S, Carapito R, Boidot R, Végran F, Flavell RA, Ryffel B, Nelson ER, Soulas-Sprauel P, Lawrence T, Apetoh L.
J Immunother Cancer. 2022 Jan;10(1):e003459. 10.1136/jitc-2021-003459
Delayed inflammation decrease is associated with mortality in Tocilizumab-treated critically ill SARS-CoV-2 patients: A retrospective matched-cohort analysis. Urbina T, Lavillegrand JR, Garnier M, Mekinian A, Pacanowski J, Mario N, Dumas G, Hariri G, Pilon A, Darrivère L, Fartoukh M, Guidet B, Maury E, Leblanc J, Chantran Y, Fain O, Lacombe K, Voiriot G, Ait-Oufella H.
Urbina T, Lavillegrand JR, Garnier M, Mekinian A, Pacanowski J, Mario N, Dumas G, Hariri G, Pilon A, Darrivère L, Fartoukh M, Guidet B, Maury E, Leblanc J, Chantran Y, Fain O, Lacombe K, Voiriot G, Ait-Oufella H.
Innate Immun. 2022 Jan;28(1):3-10. 10.1177/17534259211064602

Publications 2021

Clinique et fondamentale

Meeting report - the ever-fascinating world of septins.
Baillet A, McMurray MA, Oakes PW.
J Cell Sci. 2021 Dec 15;134(24):jcs259552. 10.1242/jcs.259552
[SORD-related hereditary neuropathies].
Fernández-Eulate G, Bruneel A, Stojkovic T.
Med Sci (Paris). 2021 Nov;37 Hors série n° 1:30-31. 10.1051/medsci/2021188
High sensitivity capillary electrophoresis with fluorescent detection for glycan mapping.
Liénard-Mayor T, Yang B, Tran NT, Bruneel A, Guttman A, Taverna M, Mai TD.
J Chromatogr A. 2021 Nov 8;1657:462593. 10.1016/j.chroma.2021.462593
Nanometric axial localization of single fluorescent molecules with modulated excitation.
Jouchet P, Cabriel C, Bourg N, Bardou M, Poüs C, Fort E, Levêque-Fort S.
Nat. Photonics, 2021. 10.1038/s41566-020-00749-9
Inherited proteoglycan biosynthesis defects-current laboratory tools and Bikunin as a promising blood biomarker.
Haouari W, Dubail J, Poüs C, Cormier-Daire V, Bruneel A.
Genes (Basel). 2021 Oct 20;12(11):1654. 10.3390/genes12111654
SLC37A4-CDG: New biochemical insights for an emerging congenital disorder of glycosylation with major coagulopathy.
Raynor A, Haouari W, Ng BG, Cholet S, Harroche A, Raulet-Bussian C, Lounis-Ouaras S, Vuillaumier-Barrot S, Pascreau T, Borgel D, Freeze HH, Fenaille F, Bruneel A.
Clin Chim Acta. 2021 Oct;521:104-106. 10.1016/j.cca.2021.07.005
Cytoskeleton and associated proteins: pleiotropic JNK substrates and regulators.
Benoit B, Baillet A, Poüs C.
Int J Mol Sci. 2021 Aug 4;22(16):8375. 10.3390/ijms22168375
Cdc42 and its BORG2 and BORG3 effectors control the subcellular localization of septins between actin stress fibers and microtubules.
Salameh J, Cantaloube I, Benoit B, Poüs C, Baillet A.
Curr Biol. 2021 Sep 27;31(18):4088-4103.e5. 10.1016/j.cub.2021.07.004
Decrease of neuronal FKBP4/FKBP52 modulates perinuclear lysosomal positioning and MAPT/Tau behavior during MAPT/Tau-induced proteotoxic stress.
Chambraud B, Daguinot C, Guillemeau K, Genet M, Dounane O, Meduri G, Poüs C, Baulieu EE, Giustiniani J.
Autophagy. 2021 Nov;17(11):3491-3510. 10.1080/15548627.2021.1875611
MAN1B1-CDG: Three new individuals and associated biochemical profiles.
Sakhi S, Cholet S, Wehbi S, Isidor B, Cogne B, Vuillaumier-Barrot S, Dupré T, Detleft T, Schmitt E, Leheup B, Bonnet C, Feillet F, Muti C, Fenaille F, Bruneel A.
Mol Genet Metab Rep. 2021 Jun 2;28:100775. 10.1016/j.ymgmr.2021.100775. eCollection 2021 Sep
Normal transferrin patterns in congenital disorders of glycosylation with Golgi homeostasis disruption: apolipoprotein C-III at the rescue!
Raynor A, Vincent-Delorme C, Alaix AS, Cholet S, Dupré T, Vuillaumier-Barrot S, Fenaille F, Besmond C, Bruneel A.
Clin Chim Acta. 2021 Aug;519:285-290. 10.1016/j.cca.2021.05.016
A mutation in SLC37A4 causes a dominantly inherited congenital disorder of glycosylation characterized by liver dysfunction.
Ng BG, Sosicka P, Fenaille F, Harroche A, Vuillaumier-Barrot S, Porterfield M, Xia ZJ, 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 HH.
Am J Hum Genet. 2021 Jun 3;108(6):1040-1052. 10.1016/j.ajhg.2021.04.013
Capillary zone electrophoresis of transferrin and EDTA samples in congenital disorders of glycosylation screening: CaNOt do, really?
Raynor A, Raulet-Bussian C, Verel L, Plouviez G, Bruneel A.
Clin Chim Acta. 2021 Aug;519:92-93. 10.1016/j.cca.2021.04.013
The exon junction complex core factor eIF4A3 is a key regulator of HPV16 gene expression.
Meznad K, Paget-Bailly P, Jacquin E, Peigney A, Aubin F, Guittaut M, Mougin C, Prétet JL, Baguet A.
Biosci Rep. 2021 Apr 30;41(4):BSR20203488. 10.1042/BSR20203488
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 Feb;42(2):142-149. 10.1002/humu.24151
Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition).
Klionsky D, ..., Jacquin E, et al.
Autophagy. 2021 Jan;17(1):1-382. 10.1080/15548627.2020.1797280
BHRF1, a BCL2 viral homolog, disturbs mitochondrial dynamics and stimulates mitophagy to dampen type I IFN induction.
Vilmen G, Glon D, Siracusano G, Lussignol M, Shao Z, Hernandez E, Perdiz D, Quignon F, Mouna L, Poüs C, Gruffat H, Maréchal V, Esclatine A.
Autophagy. 2021 Jun;17(6):1296-1315. 10.1080/15548627.2020.1758416
Elevated plasma IL-6 and CRP levels are associated with adverse clinical outcomes and death in critically ill SARS-CoV-2 patients: inflammatory response of SARS-CoV-2 patients.
Lavillegrand JR, Garnier M, Spaeth A, Mario N, Hariri G, Pilon A, Berti E, Fieux F, Thietart S, Urbina T, Turpin M, Darrivere L, Fartoukh M, Verdonk F, Dumas G, Tedgui A, Guidet B, Maury E, Chantran Y, Voiriot G, Ait-Oufella H.
Ann Intensive Care. 2021 Jan 13;11(1):9. 10.1186/s13613-020-00798-x

Publications 2019

Clinique et fondamentale

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 Nov;17(11):1798-1807. 10.1111/jth.14559
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 10.1016/j.nmd
Integrating mass spectrometry-based plasma (or serum) protein N-glycan profiling into the clinical practice?
Bruneel A, Fenaille F.
Ann Transl Med. 2019 Sep;7(Suppl 6):S225. 10.21037/atm.2019.08.04
Insight into microtubule nucleation from tubulin-capping proteins.
Campanacci V, Urvoas A, Cantos-Fernandes S, Aumont-Nicaise M, Arteni AA, Velours C, Valerio-Lepiniec M, Dreier B, Plückthun A, Pilon A, Poüs C, Minard P, Gigant B.
Proc Natl Acad Sci U S A. 2019 May 14;116(20):9859-9864. 10.1073/pnas.1813559116
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 L, Morava E.
Genet Med. 2019 May;21(5):1181-1188. 10.1038/s41436-018-0301-4
Septin 9 has two polybasic domains critical to Septin filament assembly and Golgi Integrity.
Omrane M, Camara AS, Taveneau C, Benzoubir N, Tubiana T, Yu J, Guérois R, Samuel D, Goud B, Poüs C, Bressanelli S, Garratt RC, Thiam AR, Gassama-Diagne A.
iScience. 2019 Mar 29;13:138-153. 10.1016/j.isci.2019.02.015
Early mitochondrial fragmentation is a potential in vitro biomarker of environmental stress.
Perdiz D, Oziol L, Poüs C.
Chemosphere. 2019 May;223:577-587 10.1016/j.chemosphere.2019.02.044
Septin filament coalignment with microtubules depends on SEPT9_i1 and tubulin polyglutamylation, and is an early feature of acquired cell resistance to paclitaxel.
Targa B, Klipfel L, Cantaloube I, Salameh J, Benoit B, Poüs C, Baillet A.
Cell Death Dis. 2019 Jan 22;10(2):54. 10.1038/s41419-019-1318-6
Microtubule reorientation in the blue spotlight: Cutting and CLASPing at dynamic hot spots.
Benoit B, Poüs C.
J Cell Biol. 2019 Jan 7;218(1):8-9. 10.1083/jcb.201812063

Publications 2018

Clinique et fondamentale

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 Dec;103(12):e613-e617. 10.3324/haematol.2018.198028
Functional differences of short and long isoforms of spastin harboring missense mutation.
Plaud C, Joshi V, Kajevu N, Poüs C, Curmi PA, Burgo A.
Dis Model Mech. 2018 Sep 10;11(9):dmm033704. 10.1242/dmm.033704
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.
Clin Chim Acta. 2018 Oct;485:178-180. 10.1016/j.cca.2018.06.044
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.
Nat Commun. 2018 Aug 6;9(1):3087. 10.1038/s41467-018-05191-8
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, Mégarbané A, Ruel C, Cheillan D, Dupré T, Vuillaumier-Barrot S, Seta N, Fenaille F.
Electrophoresis. 2018 Dec;39(24):3123-3132. 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, Bruneel A.
Mol Genet Metab. 2018 Jul;124(3):228-235. 10.1016/j.ymgme.2018.05.002
On-a-chip tryptic digestion of transthyretin: a step toward an integrated microfluidic system for the follow-up of familial transthyretin amyloidosis.
Bataille J , Viodé A , Pereiro I , Lafleur JP , Varenne F , Descroix S , Becher F , Kutter JP , Roesch C , Poüs C , Taverna M , Pallandre A , Smadja C , Le Potier I.
Analyst. 2018 Feb 26;143(5):1077-1086. 10.1039/c7an01737e
A capillary zone electrophoresis method for detection of Apolipoprotein C-III glycoforms and other related artifactually modified species.
Ruel C, Morani M, Bruneel A, Junot C, Taverna M, Fenaille F, Tran NT.
J Chromatogr A. 2018 Jan 12;1532:238-245. 10.1016/j.chroma.2017.12.002

Publications 2017

Clinique et fondamentale

A Fully Automated Web-Based Program Improves Lifestyle Habits and HbA1c in Patients With Type 2 Diabetes and Abdominal Obesity: Randomized Trial of Patient E-Coaching Nutritional Support (The ANODE Study).
Hansel B, Giral P, Gambotti L, Lafourcade A, Peres G, Filipecki C, Kadouch D, Hartemann A, Oppert JM, Bruckert E, Marre M, Bruneel A, Duchene E, Roussel R.
J Med Internet Res. 2017 Nov 8;19(11):e360. 10.2196/jmir.7947
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 Dec;54(12):843-851. 10.1136/jmedgenet-2017-104903
Stress-induced hyperacetylation of microtubule enhances mitochondrial fission and modulates the phosphorylation of Drp1 at 616 Ser.
Perdiz D, Lorin S, Leroy-Gori I, Poüs C.
Cell Signal. 2017 Nov;39:32-43. 10.1016/j.cellsig.2017.07.020
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, Seta N.
Clin Chim Acta. 2017 Jul;470:70-74. 10.1016/j.cca.2017.04.022
Biotin interferes with free thyroid hormone and thyroglobulin, but not TSH measurements using Beckman-Access immunoassays.
Lim SK, Pilon A, Guéchot J.
Ann Endocrinol (Paris). 2017 Jul;78(3):186-187. 10.1016/j.ando.2016.08.001

Publications 2016

Clinique et fondamentale

Localized Mechanical Stress Promotes Microtubule Rescue.
de Forges H, Pilon A, Cantaloube I, Pallandre A, Haghiri-Gosnet AM, Perez F, Poüs C.
Curr Biol. 2016 Dec 19;26(24):3399-3406. 10.1016/j.cub.2016.10.048
Cancer-Related Functions and Subcellular Localizations of Septins.
Poüs C, Klipfel L, Baillet A.
Front Cell Dev Biol. 2016 Nov 8;4:126. 10.3389/fcell.2016.00126. eCollection 2016
Serum proteomic signatures as biomarkers of primary biliary cirrhosis diagnosis and prognosis.
Baudin B, Bruneel A, Poupon R, Vaubourdolle M.
Ann Biol Clin (Paris). 2016 Oct 1;74(5):607-612. 10.1684/abc.2016.1182
Liver regeneration following repeated reversible portal vein embolization in an experimental model.
Tranchart H, Koffi GM, Gaillard M, Lainas P, Poüs C, Gonin P, Nguyen TH, Dubart-Kupperschmitt A, Dagher I.
Br J Surg. 2016 Aug;103(9):1209-19. 10.1002/bjs.10153
MAPping the Wnt pathway to hepatocellular carcinoma recurrence.
Benoit B, Poüs C.
Gut. 2016 Sep;65(9):1397-400. 10.1136/gutjnl-2016-311637

Publications 2015

Clinique et fondamentale

Septin cooperation with tubulin polyglutamylation contributes to cancer cell adaptation to taxanes.
Froidevaux-Klipfel L, Targa B, Cantaloube I, Ahmed-Zaïd H, Poüs C, Baillet A.
Oncotarget. 2015 Nov 3;6(34):36063-80. 10.18632/oncotarget.5373
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, Bruneel A.
Proteomics Clin Appl. 2015 Aug; 9(7-8):787-93. 10.1002/prca.201400187
Red blood cell Thomsen-Friedenreich antigen expression and galectin-3 plasma concentrations in Streptococcus pneumoniae-associated hemolytic uremic syndrome and hemolytic anemia.
Burin des Roziers N, Chadebech P, Bodivit G, Guinchard E, Bruneel A, Dupré T, Chevret L, Jugie M, Gallon P, Bierling P, Noizat-Pirenne F.
Transfusion. 2015 Jun;55(6 Pt 2):1563-71. 10.1111/trf.12981
Thermosensitive and mucoadhesive pluronic-hydroxypropylmethylcellulose hydrogel containing the mini-CD4 M48U1 is a promising efficient barrier against HIV diffusion through macaque cervicovaginal mucus.
Bouchemal K, Aka-Any-Grah A, Dereuddre-Bosquet N, Martin L, Lievin-Le-Moal V, Le Grand R, Nicolas V, Gibellini D, Lembo D, Poüs C, Koffi A, Ponchel G.
Antimicrob Agents Chemother. 2015 Apr;59(4):2215-22. 10.1128/AAC.03503-14
 
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