Delphine Borgel

Publications

Article dans une revue (36)

β4GALT1-CDG uncovers a novel mechanism of Von Willebrand factor deficiency through impaired glycosylation and accelerated Claire Auditeau,Frédéric Adam,Arnaud Bruneel,François Fenaille,Christelle Repérantet al. Hämostaseologie, 2026, GTH Congress 2026 – 70th Annual Meeting of the Society of Thrombosis and Haemostasis Research Bonn, Germany, 17.–20.02.2026, 46 (S01), pp.S73-S74. ⟨10.1055/s-0045-1814603⟩ Article dans une revue hal-05534728v1
An Inhibitory Single-Domain Antibody against Protein Z-Dependent Protease Inhibitor Promotes Thrombin Generation in Severe Hemophilia A and FXI Deficiency Claire Auditeau,Tung-Son Nguyen,Floriane Devaux,François Saller,Ivan Peyronet al. Thrombosis and Haemostasis, 2024, 125 (03), pp.207-217. ⟨10.1055/a-2373-2829⟩ Article dans une revue hal-05316627v1
The effects of time and temperature on the in vitro stability of emicizumab in blood samples: Implications for laboratory and clinical practices Nûn Bentounes,Dominique Lasne,Capucine Habay,Cécile Bally,Laurent Frenzelet al. Haemophilia, 2024, 30 (2), pp.554-557. ⟨10.1111/hae.14923⟩ Article dans une revue hal-04457427v1
Hemostatic defects in congenital disorders of glycosylation Tiffany Pascreau,Claire Auditeau,Delphine Borgel Research and Practice in Thrombosis and Haemostasis, 2023, 7 (3), pp.100142. ⟨10.1016/j.rpth.2023.100142⟩ Article dans une revue hal-04457429v1
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 Solarzet al. Journal of Thrombosis and Haemostasis, 2023, ⟨10.1016/j.jtha.2023.05.007⟩ Article dans une revue hal-04106364v1
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 Hullyet al. Molecular Genetics and Metabolism, 2023, 140 (3), pp.107674. ⟨10.1016/j.ymgme.2023.107674⟩ Article dans une revue hal-04457438v1
How can the design of therapeutic SERPINs be improved? Elsa Bianchini,Claire Auditeau,Delphine Borgel Journal of Thrombosis and Haemostasis, 2022, 20, pp.1037-1039. ⟨10.1111/jth.15667⟩ Article dans une revue inserm-04455201v1
Emicizumab does not interfere with the activated clotting time Ladislas Capdevila,Corinne Frère,Maximilien Desvages,Annie Harroche,Cécile Ballyet al. Haemophilia, 2022, 28 (2), pp.362-366. ⟨10.1111/hae.14497⟩ Article dans une revue hal-04463219v1
Pathophysiological pathway differences in children who present with COVID-19 ARDS compared to COVID -19 induced MIS-C Conor Mccafferty,Tengyi Cai,Delphine Borgel,Dominique Lasne,Sylvain Renolleauet al. Nature Communications, 2022, 13 (1), pp.2391. ⟨10.1038/s41467-022-29951-9⟩ Article dans une revue hal-04457421v1
Antithrombin supplementation for prevention of vascular thrombosis after pediatric liver transplantation Maria Hukkinen,Michela Wong,Zeynep Demir,Radhia Hadj Salem,Dominique Debrayet al. Journal of Pediatric Surgery, 2022, 57 (11), pp.666-675. ⟨10.1016/j.jpedsurg.2022.06.008⟩ Article dans une revue hal-04457416v1
Reappearance of inhibitor in a tolerized patient with severe haemophilia A during FVIII‐free emicizumab therapy Ladislas Capdevila,Delphine Borgel,Dominique Lasne,Sébastien Lacroix-Desmazes,Maximilien Desvageset al. Haemophilia, 2021, 27 (4), pp.e581-e584. ⟨10.1111/hae.14334⟩ Article dans une revue hal-03431426v1
The Proteolytic Inactivation of Protein Z-Dependent Protease Inhibitor by Neutrophil Elastase Might Promote the Procoagulant Activity of Neutrophil Extracellular Traps in Sepsis Elsa P Bianchini,Mahita Razanakolona,Julie Helms,Fouzia Zouiti,Amélie Couteau-Chardonet al. Thrombosis and Haemostasis, 2021, Online ahead of print. ⟨10.1055/a-1530-3980⟩ Article dans une revue inserm-03313257v1
SLC37A4-CDG: New biochemical insights for an emerging congenital disorder of glycosylation with major coagulopathy Alexandre Raynor,Walid Haouari,Bobby Ng,Sophie Cholet,Annie Harrocheet al. Clinica Chimica Acta, 2021, 521, pp.104-106. ⟨10.1016/j.cca.2021.07.005⟩ Article dans une revue hal-04455053v1
Cyclic bridged analogs of isoCA-4: Design, synthesis and biological evaluation Shannon Pecnard,Olivier Provot,Hélène Levaique,Jérome Bignon,Laurie Askenatziset al. European Journal of Medicinal Chemistry, 2021, 209, pp.112873. ⟨10.1016/j.ejmech.2020.112873⟩ Article dans une revue hal-03034493v1
A mutation in SLC37A4 causes a dominantly inherited congenital disorder of glycosylation characterized by liver dysfunction Bobby Ng,Paulina Sosicka,François Fenaille,Annie Harroche,Sandrine Vuillaumier-Barrotet al. American Journal of Human Genetics, 2021, 108 (6), pp.1040-1052. ⟨10.1016/j.ajhg.2021.04.013⟩ Article dans une revue hal-03321294v1
Factor XII in PMM2-CDG patients: role of N-glycosylation in the secretion and function of the first element of the contact pathway Raquel López-Gálvez,María Eugenia de la Morena-Barrio,Alberto López-Lera,Monika Pathak,Antonia Miñanoet al. Orphanet Journal of Rare Diseases, 2020, 15 (1), pp.280. ⟨10.1186/s13023-020-01564-9⟩ Article dans une revue hal-04457414v1
Long term outcome of MPI‐CDG patients on D‐mannose therapy Muriel Girard,Claire Douillard,Dominique Debray,Florence Lacaille,Manuel Schiffet al. Journal of Inherited Metabolic Disease, 2020, 43 (6), pp.1360-1369. ⟨10.1002/jimd.12289⟩ Article dans une revue hal-03530176v1
Consensus guideline for the diagnosis and management of mannose phosphate isomerase‐congenital disorder of glycosylation Anna Čechová,Ruqaiah Altassan,Delphine Borgel,Arnaud Bruneel,Joana Correiaet al. Journal of Inherited Metabolic Disease, 2020, 43 (4), pp.671-693. ⟨10.1002/jimd.12241⟩ Article dans une revue hal-04457411v1
Clinical variability and probable founder effect in oculocutaneous albinism type 7. Pauline Bataille,Vincent Michaud,Matthieu P Robert,Lilia Bekel,Stéphanie Leclerc-Mercieret al. Clinical Genetics, 2020, 97 (3), pp.527-528. ⟨10.1111/cge.13655⟩ Article dans une revue hal-03878371v1
Measuring beta‐galactose exposure on platelets: Standardization and healthy reference values Dominique Lasne,Tiffany Pascreau,Sadyo Darame,Marie‐charlotte Bourrienne,Peggy Tournouxet al. Research and Practice in Thrombosis and Haemostasis, 2020, 4 (5), pp.813-822. ⟨10.1002/rth2.12369⟩ Article dans une revue hal-02964593v1
NAADP/SERCA3-dependent Ca2+ stores pathway specifically controls early autocrine ADP secretion potentiating platelet activation. Miao Feng,Ziane Elaïb,Delphine Borgel,Cécile Denis,Frédéric Adamet al. Circulation Research, 2020, 127 (7), pp.e166-e183. ⟨10.1161/CIRCRESAHA.119.316090⟩ Article dans une revue inserm-02948394v1
Inflammation in deep vein thrombosis: a therapeutic target? Delphine Borgel,Elsa Bianchini,Dominique Lasne,Tiffany Pascreau,François Saller Hematology, 2019, 24 (1), pp.742-750. ⟨10.1080/16078454.2019.1687144⟩ Article dans une revue (article de synthèse) inserm-04455174v1
Fulminant arterial vasculitis as an unusual complication of disseminated staphylococcal disease due to the emerging CC1 methicillin-susceptible Staphylococcus aureus clone: a case report Charles Vidal,Florence Moulin,Xavier Nassif,Louise Galmiche,Delphine Borgelet al. BMC Infectious Diseases, 2019, 19 (1), pp.302. ⟨10.1186/s12879-019-3933-3⟩ Article dans une revue inserm-02285428v1
Relevance of platelet desialylation and thrombocytopenia in type 2B von Willebrand disease: preclinical and clinical evidence Annabelle Dupont,Christelle Soukaseum,Mathilde Cheptou,Frédéric Adam,Thomas Nipotiet al. Haematologica, 2019, HITH, pp.haematol.2018.206250. ⟨10.3324/haematol.2018.206250⟩ Article dans une revue hal-02347340v1
International clinical guidelines for the management of phosphomannomutase 2‐congenital disorders of glycosylation: Diagnosis, treatment and follow up Ruqaiah Altassan,Romain Péanne,Jaak Jaeken,Rita Barone,Muad Bidetet al. Journal of Inherited Metabolic Disease, 2019, 42 (1), pp.5-28. ⟨10.1002/jimd.12024⟩ Article dans une revue hal-04457400v1
Long-term follow-up in PMM2-CDG: are we ready to start treatment trials? Peter Witters,Tomas Honzik,Eric Bauchart,Ruqaiah Altassan,Tiffany Pascreauet al. Genetics in Medicine, 2019, 21 (5), pp.1181-1188. ⟨10.1038/s41436-018-0301-4⟩ Article dans une revue hal-04457407v1
Inactivated antithombin as anticoagulant reversal in a rat model of cardiopulmonary bypass: a potent and potentially safer alternative to protamine Elsa Bianchini,Alexandre Sebestyen,Toufik Abache,Yasmine Bourti,Alexandre Fontayneet al. British Journal of Haematology, 2018, 180 (5), pp.715-720. ⟨10.1111/bjh.15091⟩ Article dans une revue inserm-02296615v1
Design and Synthesis of Tubulin and Histone Deacetylase Inhibitor Based on iso -Combretastatin A-4 Diana Lamaa,Hsin-Ping Lin,Lena Zig,Cyril Bauvais,Guillaume Bollotet al. Journal of Medicinal Chemistry, 2018, 61 (15), pp.6574-6591. ⟨10.1021/acs.jmedchem.8b00050⟩ Article dans une revue hal-02309817v1
An ADAM-10 dependent EPCR shedding links meningococcal interaction with endothelial cells to purpura fulminans Hervé Lécuyer,Zoé Virion,Jean-Philippe Barnier,Soraya Matczak,Sandrine Bourdoulouset al. PLoS Pathogens, 2018, 14 (4), pp.e1006981. ⟨10.1371/journal.ppat.1006981⟩ Article dans une revue inserm-02174542v1
A fluorine scan of a tubulin polymerization inhibitor isocombretastatin A-4: Design, synthesis, molecular modelling, and biological evaluation Timothée Naret,Jérôme Bignon,Guillaume Bernadat,Mohamed Benchekroun,Helene Levaiqueet al. European Journal of Medicinal Chemistry, 2018, 143, pp.473-490. ⟨10.1016/j.ejmech.2017.11.055⟩ Article dans une revue hal-02105508v1
Kinesin-1 Is a New Actor Involved in Platelet Secretion and Thrombus Stability Frédéric Adam,Alexandre Kauskot,Mathieu Kurowska,Nicolas Goudin,Isabelle Munozet al. Arteriosclerosis, Thrombosis, and Vascular Biology, 2018, 38 (5), pp.1037-1051. ⟨10.1161/ATVBAHA.117.310373⟩ Article dans une revue inserm-02440288v1
TUBB1 mutations cause thyroid dysgenesis associated with abnormal platelet physiology Athanasia Stoupa,Frédéric Adam,Dulanjalee Kariyawasam,Catherine Strassel,Sanjay Gawadeet al. EMBO Molecular Medicine, 2018, ⟨10.15252/emmm.201809569⟩ Article dans une revue hal-02375086v1
Endothelial cell surface limits coagulation without modulating the antithrombin potency Béatrice Catieau,Véronique Devos,Sami Chtourou,Delphine Borgel,Jean-Luc Plantier Thrombosis Research, 2018, 167, pp.88-95. ⟨10.1016/j.thromres.2018.05.019⟩ Article dans une revue hal-04457391v1
Pathogenesis of meningococcal purpura fulminans Hervé Lécuyer,Delphine Borgel,Xavier Nassif,Mathieu Coureuil Pathogens and Disease, 2017, ⟨10.1093/femspd/ftx027⟩ Article dans une revue hal-03552926v1
Complex formation with pentraxin-2 regulates factor X plasma levels and macrophage interactions Vincent Muczynski,Gabriel Aymé,Véronique Regnault,Marc Vasse,Delphine Borgelet al. Blood, 2017, 129 (17), pp.2443-2454. ⟨10.1182/blood-2016-06-724351⟩ Article dans une revue hal-03567147v1
Targeting VEGFR1 on endothelial progenitors modulates their differentiation potential Clément D’audigier,Benoit Gautier,Alexis Yon,Jean-Meidi Alili,Coralie L. Guérinet al. Angiogenesis, 2014, 17 (3), p. 603-616. ⟨10.1007/s10456-013-9413-2⟩ Article dans une revue hal-01300965v1

Communication dans un congrès (13)

A novel β1-tubulin mutation associated with secretion-dependent platelet hyperactivity and prothrombotic risk via GPVI and CLEC-2 engagement Toscane Viellard,Jean Solarz,Christelle Repérant,Christelle Soukaseum,Johannes A Ebleet al. 7th EUPLAN International Conference, Sep 2025, Wuerzburg, Germany Communication dans un congrès inserm-05293799v1
Une nouvelle mutation de la tubuline β1 associée à un profil prothrombotique dépendant de l’axe GPVI et de la sécrétion Toscane Viellard,Christelle Repérant,Jean Solarz,Jean-Claude Bordet,Cécile Deniset al. Congrès de la Société Française d'Hématologie, Apr 2025, Paris, France Communication dans un congrès hal-05151565v1
Fitusiran-treatment modulates the ratio between alpha- and beta-antithrombin isoforms Geneviève Mccluskey,Hortense Maynadié,Caterina Casari,Delphine Borgel,Laurent Frenzelet al. Congrès Français d'Hémostase, Société Française de Thrombose et d'Hémostase, Sep 2024, Lille, France Communication dans un congrès hal-04701035v1
Mise en évidence dans un modèle murin d’un risque prothrombotique associé à une mutation de la tubuline β1 Toscane Viellard,Christelle Repérant,Jean Solarz,Jean-Claude Bordet,Cécile Deniset al. Congrès Français d'Hémostase, Société Française de Thrombose et d'Hémostase, Sep 2024, Lille, France Communication dans un congrès hal-04701038v1
Mise en évidence dans un modèle murin d’un risque prothrombotique associé à une mutation de la tubuline β1 Toscane Viellard,Christelle Repérant,Jean Solarz,Jean-Claude Bordet,Cécile Deniset al. Congrès Français d'Hémostase (CFH) 2024, Sep 2024, Lille, France Communication dans un congrès hal-05151543v1
Une nouvelle mutation de la tubuline β1 associée à un profil prothrombotique dépendant de l’axe GPVI et de la sécrétion Toscane Viellard,Christelle Repérant,Jean Solarz,Jean-Claude Bordet,Cécile Deniset al. Club Français des Plaquettes et des Mégacaryocytes (CFPM), Oct 2024, Saint Etienne, France Communication dans un congrès hal-05151561v1
Llama-derived single-domain antibodies blocking tissue factor pathway inhibitor and increasing thrombin generation in FVIII- and FX-deficient plasma Francois Saller,Ivan Peyron,Andrea Ruty,Saenjamsai P,Claire Auditeauet al. European Congress on Thrombosis and Haemostasis, Sep 2023, Valence (Espagne), Spain Communication dans un congrès hal-04501177v1
A single-domain antibody enhancing protein S activity reduces vaso-occlusion in two murine models of sickle cell disease Claire Auditeau,Thiago Maciel,Josepha Sedzro,Camille Roussel,Aurélie Fricot-Monsinjonet al. European Congress on Thrombosis and Haemostasis, Sep 2023, Valence (Espagne), Spain Communication dans un congrès hal-04501174v1
Antithrombotic Potential of a Single-domain Antibody Enhancing the Anticoagulant Activity of Protein S Josepha Sedzro,Frédéric Adam,Allan De Carvalho,Elsa P Bianchini,Ivan Peyronet al. Hybrid Congress of the International Society on Thrombosis and Haemostasis, International Society on Thrombosis and Haemostasis, Jul 2021, Philadelphia (Pennsylvania), United States. pp.Abstract OC 60.2 Communication dans un congrès hal-04501112v1
L’activation des canaux TRPV4 induit la transition des cellules endothéliales veineuses ou artérielles vers un phénotype pro-inflammatoire. Kathia Beddek,Florent Raffin,Francois Saller,Delphine Borgel,Diane Riccobonoet al. 40eme congres de la SFH, Sep 2020, Paris, France Communication dans un congrès hal-04455362v1
Long-Term Follow-Up Study after Lentiviral Hematopoietic Stem/Progenitor Cell Gene Therapy for Wiskott-Aldrich Syndrome Alessandra Magnani,Frédéric Adam,Michaela Semeraro,Loïc Dupré,Aurélie Gabrionet al. ASGCT 23rd Annual Meeting, May 2020, Boston (MA), United States. pp.Abstract 111 Communication dans un congrès hal-04455733v1
Caractérisation d’une nanobody qui potentialize l’activité cofacteur de la protéine C active de la protéine S Sedzro Jc,Francois Saller,Frédéric Adam,De Carvalho,Sophie Gandrilleet al. 40ème congrès de la Société Française d’Hématologie, Société Française d’Hématologie, Sep 2020, Paris, France. pp.Page 39, Abstract 04-01 Communication dans un congrès hal-04501074v1
La diminution de l’activité des pompes à calcium SERCA3 permet la réduction de la réponse inflammatoire. Kathia Beddek,Frédéric Adam,Francois Saller,Delphine Borgel,Regis Bobe 40eme congres de la SFH 2020, Sep 2020, Paris, France Communication dans un congrès hal-04455333v1

Poster de conférence (6)

A novel β1-tubulin mutation associated with a secretion-dependent platelet hyperactivity and prothrombotic risk Toscane Viellard,Jean Solarz,Christelle Repérant,Christelle Soukaseum,Cécile Deniset al. ECTH 2025 Prague, Oct 2025, Prague (CZ), Czech Republic Poster de conférence hal-05351155v1
MAGT1 DEFICIENCY CAUSES A PROMINENT PLATELETS DYSFUNCTION THROUGH IMPAIRMENT OF MEMBRANE GLYCOPROTEINS N-GLYCOSYLATION Alexandre Kauskot,Coralie Mallebranche,Jean Solarz,Miao Feng,Toscane Viellardet al. 20th Biennial Meeting of the European Society for Immunodeficiencies (ESID), Oct 2022, Gothenburg, Sweden. Abstract 801 Poster de conférence hal-04455514v1
Ca2+ release from Sarco/Endoplamic Reticulum Ca2+-ATPase 3 (SERCA3) controlled stores is involved in endothelial permeability and inflammatory response. Kathia Beddek,Frédéric Adam,Francois Saller,Delphine Borgel,Regis Bobe ISTH 2020, Jul 2020, Virtual conference, France Poster de conférence hal-04455301v1
Standardization of a Flow Cytometry Platelet Sialylation Assay, and reference Values forBeta-Galactose Exposure in Healthy Subjects Dominique Lasne,Tiffany Pascreau,Sadyo Darame,Marie-Charlotte Bourrienne,Aurélien Philippeet al. ISTH, 2020, Jul 2020, Milan (Italie), Italy. PB0441 Poster de conférence hal-04454870v1
NAADP/SERCA3-dependent Ca2+ stores pathway specifically controls early autocrine ADP secretion potentiating platelet activation. Miao Feng,Ziane Elaib,Delphine Borgel,Cécile V. Denis,Frédéric Adamet al. ISTH 2020, Jul 2020, Virtual congress, France Poster de conférence hal-04455286v1
Relevance of platelet desialylation and thrombocytopenia in type 2B von Willebrand disease Annabelle Dupont,Christelle Soukaseum,Mathilde Cheptou,Frédéric Adam,Thomas Nipotiet al. GRC, Cell biology of megakaryocytes and platelets, 2019, Mar 2019, Galveston - Texas, United States Poster de conférence hal-04455289v1