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Physiopathogénèse et Traitement des maladies du foie

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Hepareg
  • Accueil
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    • A propos d'Hepareg
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  • Équipes
    • 1- Modulation de la plasticité cellulaire et bio-ingénierie hépatique
    • 2- Bioconstruction d’organoïdes hépatiques
    • 3- Microbiote, Inflammation et Cancer
    • 4- Homéostasie biliaire et physiopathologie hépato-biliaire
  • Publications
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  • Actualités

Offres d'emploi

Publications : Équipe 4 - Groupe 2 - Thomas Falguières

Publications 2026

Molecular characterization of the trafficking rescue of defective ABCB4 variants by roscovitine analogs.
Banet M*, Crespi V*, Elie J, Riahi Y, Lakli M, Mareux E, Gonzales E, Jacquemin E, Meijer L, Lapalus M, Di Meo F§, Falguières T§ (*,§ equal contributions).
Sci rep. 2025. In press. doi: 10.1038/s41598-026-39840-6

Publications 2025

Correction of a Traffic-Defective Missense ABCB11 Variant Responsible for Progressive Familial Intrahepatic Cholestasis Type 2.
Lapalus M, Mareux E, Amzal R, Drège E, Riahi Y, Petit S, Banet M, Falguières T, Callebaut I, Figadère B, Joseph D, Gonzales E, Jacquemin E.
Int J Mol Sci. 2025 May 29;26(11):5232. doi: 10.3390/ijms26115232. PMID: 40508041; PMCID: PMC12154090.
Membrane-dependent dynamics and dual translocation mechanisms of ABCB4: Insights from molecular dynamics simulations.
Crespi V, Tóth Á, Janaszkiewicz A, Falguières T, Di Meo F.
Comput Struct Biotechnol J. 2025 Mar 6;27:1215-1232. doi: 10.1016/j.csbj.2025.03.004. PMID: 40206349; PMCID: PMC11979951.

Publications 2024

ABC transporters involved in respiratory and cholestatic diseases: From rare to very rare monogenic diseases.
Lakli M, Onnée M, Carrez T, Becq F, Falguières T, Fanen P.
Biochem Pharmacol. 2024 Nov;229:116468. doi: 10.1016/j.bcp.2024.116468. Epub 2024 Aug 5. PMID: 39111603.
Identification of new correctors for traffic-defective ABCB4 variants by a high-content screening approach.
Lakli M, Dumont J, Vauthier V, Charton J, Crespi V, Banet M, Riahi Y, Ben Saad A, Mareux E, Lapalus M, Gonzales E, Jacquemin E, Di Meo F, Deprez B, Leroux F, Falguières T.
Commun Biol. 2024 Jul 24;7(1):898. doi: 10.1038/s42003-024-06590-y. PMID: 39048674; PMCID: PMC11269752.

Publications 2023

Outcomes of 38 patients with PFIC3: Impact of genotype and of response to ursodeoxycholic acid therapy.
Gonzales E, Gardin A, Almes M, Darmellah-Remil A, Seguin H, Mussini C, Franchi-Abella S, Duché M, Ackermann O, Thébaut A, Habes D, Hermeziu B, Lapalus M, Falguières T, Combal JP, Benichou B, Valero S, Davit-Spraul A, Jacquemin E.
JHEP Rep. 2023 Jul 13;5(10):100844. doi: 10.1016/j.jhepr.2023.100844. PMID: 37701337; PMCID: PMC10494458.
Natural history of liver disease in a large international cohort of children with Alagille syndrome: Results from the GALA study.
Vandriel SM, Li LT, She H, Wang JS, Gilbert MA, Jankowska I, Czubkowski P, Gliwicz-Miedzińska D, Gonzales EM, Jacquemin E, Bouligand J, Spinner NB, Loomes KM, Piccoli DA, D'Antiga L, Nicastro E, Sokal É, Demaret T, Ebel NH, Feinstein JA, Fawaz R, Nastasio S, Lacaille F, Debray D, Arnell H, Fischler B, Siew S, Stormon M, Karpen SJ, Romero R, Kim KM, Baek WY, Hardikar W, Shankar S, Roberts AJ, Evans HM, Jensen MK, Kavan M, Sundaram SS, Chaidez A, Karthikeyan P, Sanchez MC, Cavalieri ML, Verkade HJ, Lee WS, Squires JE, Hajinicolaou C, Lertudomphonwanit C, Fischer RT, Larson-Nath C, Mozer-Glassberg Y, Arikan C, Lin HC, Bernabeu JQ, Alam S, Kelly DA, Carvalho E, Ferreira CT, Indolfi G, Quiros- Tejeira RE, Bulut P, Calvo PL, Önal Z, Valentino PL, Desai DM, Eshun J, Rogalidou M, Dezsőfi A, Wiecek S, Nebbia G, Pinto RB, Wolters VM, Tamara ML, Zizzo AN, Garcia J, Schwarz K, Beretta M, Sandahl TD, Jimenez-Rivera C, Kerkar N, Brecelj J, Mujawar Q, Rock N, Busoms CM, Karnsakul W, Lurz E, Santos-Silva E, Blondet N, Bujanda L, Shah U, Thompson RJ, Hansen BE, Kamath BM; Global Alagille Alliance (GALA) Study Group.
Hepatology. 2023 Feb 1;77(2):512-529. doi: 10.1002/hep.32761. Epub 2022 Oct 13. PMID: 36036223; PMCID: PMC9869940.
Maralixibat Treatment Response in Alagille Syndrome is Associated with Improved Health-Related Quality of Life.
Kamath BM, Goldstein A, Howard R, Garner W, Vig P, Marden JR, Billmyer E, Anderson A, Kirson N, Jacquemin E, Gonzales E.
J Pediatr. 2023 Jan;252:68-75.e5. doi: 10.1016/j.jpeds.2022.09.001. Epub 2022 Sep 10. PMID: 36096175.

Publications 2022

In Vitro Rescue of the Bile Acid Transport Function of ABCB11 Variants by CFTR Potentiators.
Mareux E, Lapalus M, Ben Saad A, Zelli R, Lakli M, Riahi Y, Almes M, Banet M, Callebaut I, Decout JL, Falguières T, Jacquemin E, Gonzales E.
Int J Mol Sci. 2022 Sep 15;23(18):10758. doi: 10.3390/ijms231810758. PMID: 36142670; PMCID: PMC9502978.
A Model for Early Endoscopic Detection of High-Risk Gastroesophageal Varices in Children With Biliary Atresia.
Ackermann O, de Boissieu P, Bernard O, Gonzales E, Jacquemin E, Duché M.
J Pediatr Gastroenterol Nutr. 2022 May 1;74(5):643-650. doi: 10.1097/MPG.0000000000003375. Epub 2021 Dec 28. PMID: 34984987.
ABC Transporters in Human Diseases: Future Directions and Therapeutic Perspectives.
Falguières T.
Int J Mol Sci. 2022 Apr 12;23(8):4250. doi: 10.3390/ijms23084250. PMID: 35457067; PMCID: PMC9028344.

Publications 2021

In Vitro Rescue of the Bile Acid Transport Function of ABCB11 Variants by CFTR Potentiators.
Mareux E, Lapalus M, Ben Saad A, Zelli R, Lakli M, Riahi Y, Almes M, Banet M, Callebaut I, Decout JL, Falguières T, Jacquemin E, Gonzales E.
Int J Mol Sci. 2022 Sep 15;23(18):10758. doi: 10.3390/ijms231810758. PMID: 36142670; PMCID: PMC9502978.
RAB10 Interacts with ABCB4 and Regulates Its Intracellular Traffic.
Ben Saad A, Vauthier V, Lapalus M, Mareux E, Bennana E, Durand-Schneider AM, Bruneau A, Delaunay JL, Gonzales E, Housset C, Aït-Slimane T, Guillonneau F, Jacquemin E, Falguières T.
Int J Mol Sci. 2021 Jun 30;22(13):7087. doi: 10.3390/ijms22137087. PMID: 34209301; PMCID: PMC8268348.
Effect of CFTR correctors on the traffic and the function of intracellularly retained ABCB4 variants.
Ben Saad A, Vauthier V, Tóth Á, Janaszkiewicz A, Durand-Schneider AM, Bruneau A, Delaunay JL, Lapalus M, Mareux E, Garcin I, Gonzales E, Housset C, Aït-Slimane T, Jacquemin E, Di Meo F, Falguières T.
Liver Int. 2021 Jun;41(6):1344-1357. doi: 10.1111/liv.14839. Epub 2021 Mar 25. PMID: 33650203.
Pharmacological Premature Termination Codon Readthrough of ABCB11 in Bile Salt Export Pump Deficiency: An In Vitro Study.
Amzal R, Thébaut A, Lapalus M, Almes M, Grosse B, Mareux E, Collado-Hilly M, Davit-Spraul A, Bidou L, Namy O, Jacquemin E, Gonzales E.
Hepatology. 2021 Apr;73(4):1449-1463. doi: 10.1002/hep.31476. PMID: 32702170.
Molecular Regulation of Canalicular ABC Transporters.
Ben Saad A, Bruneau A, Mareux E, Lapalus M, Delaunay JL, Gonzales E, Jacquemin E, Aït-Slimane T, Falguières T.
Int J Mol Sci. 2021 Feb 20;22(4):2113. doi: 10.3390/ijms22042113. PMID: 33672718; PMCID: PMC7924332.
Efficacy and safety of maralixibat treatment in patients with Alagille syndrome and cholestatic pruritus (ICONIC): a randomised phase 2 study.
Gonzales E, Hardikar W, Stormon M, Baker A, Hierro L, Gliwicz D, Lacaille F, Lachaux A, Sturm E, Setchell KDR, Kennedy C, Dorenbaum A, Steinmetz J, Desai NK, Wardle AJ, Garner W, Vig P, Jaecklin T, Sokal EM, Jacquemin E.
Lancet. 2021 Oct 30;398(10311):1581-1592. doi: 10.1016/S0140-6736(21)01256-3. Epub 2021 Oct 28. PMID: 34755627.
Natural Course and Prognosis of PFIC and Effect of Biliary Diversion Consortium. Impact of Genotype, Serum Bile Acids, and Surgical Biliary Diversion on Native Liver Survival in FIC1 Deficiency.
van Wessel DBE, Thompson RJ, Gonzales E, Jankowska I, Shneider BL, Sokal E, Grammatikopoulos T, Kadaristiana A, Jacquemin E, Spraul A, Lipiński P, Czubkowski P, Rock N, Shagrani M, Broering D, Algoufi T, Mazhar N, Nicastro E, Kelly D, Nebbia G, Arnell H, Fischler B, Hulscher JBF, Serranti D, Arikan C, Debray D, Lacaille F, Goncalves C, Hierro L, Muñoz Bartolo G, Mozer-Glassberg Y, Azaz A, Brecelj J, Dezsőfi A, Luigi Calvo P, Krebs-Schmitt D, Hartleif S, van der Woerd WL, Wang JS, Li LT, Durmaz Ö, Kerkar N, Hørby Jørgensen M, Fischer R, Jimenez-Rivera C, Alam S, Cananzi M, Laverdure N, Targa Ferreira C, Ordonez F, Wang H, Sency V, Mo Kim K, Chen HL, Carvalho E, Fabre A, Quintero Bernabeu J, Alonso EM, Sokol RJ, Suchy FJ, Loomes KM, McKiernan PJ, Rosenthal P, Turmelle Y, Rao GS, Horslen S, Kamath BM, Rogalidou M, Karnsakul WW, Hansen B, Verkade HJ; Natural Course and Prognosis of PFIC and Effect of Biliary Diversion Consortium.
Hepatology. 2021 Aug;74(2):892-906. doi: 10.1002/hep.31787. Epub 2021 Jul 13. PMID: 33666275; PMCID: PMC8456904.

Publications 2020

Functional rescue of an ABCB11 mutant by ivacaftor: A new targeted pharmacotherapy approach in bile salt export pump deficiency.
Mareux E, Lapalus M, Amzal R, Almes M, Aït-Slimane T, Delaunay JL, Adnot P, Collado-Hilly M, Davit-Spraul A, Falguières T, Callebaut I, Gonzales E, Jacquemin E.
Liver Int. 2020 Aug;40(8):1917-1925. doi: 10.1111/liv.14518. Epub 2020 Jun 8. PMID: 32433800.
Natural course and Prognosis of PFIC and Effect of biliary Diversion (NAPPED) consortium. Genotype correlates with the natural history of severe bile salt export pump deficiency.
van Wessel DBE, Thompson RJ, Gonzales E, Jankowska I, Sokal E, Grammatikopoulos T, Kadaristiana A, Jacquemin E, Spraul A, Lipiński P, Czubkowski P, Rock N, Shagrani M, Broering D, Algoufi T, Mazhar N, Nicastro E, Kelly DA, Nebbia G, Arnell H, Björn Fischler, Hulscher JBF, Serranti D, Arikan C, Polat E, Debray D, Lacaille F, Goncalves C, Hierro L, Muñoz Bartolo G, Mozer-Glassberg Y, Azaz A, Brecelj J, Dezsőfi A, Calvo PL, Grabhorn E, Sturm E, van der Woerd WJ, Kamath BM, Wang JS, Li L, Durmaz Ö, Onal Z, Bunt TMG, Hansen BE, Verkade HJ;
J Hepatol. 2020 Jul;73(1):84-93. doi: 10.1016/j.jhep.2020.02.007. Epub 2020 Feb 20. PMID: 32087350.
Glycerol Phenylbutyrate Therapy in Progressive Familial Intrahepatic Cholestasis Type 2.
Almes M, Jobert A, Lapalus M, Mareux E, Gonzales E, Jacquemin E.
J Pediatr Gastroenterol Nutr. 2020 Jun;70(6):e139-e140. doi: 10.1097/MPG.0000000000002713. PMID: 32443059.

Publications 2019

Structural analogues of roscovitine rescue the intracellular traffic and the function of ER-retained ABCB4 variants in cell models.
Vauthier V, Ben Saad A, Elie J, Oumata N, Durand-Schneider AM, Bruneau A, Delaunay JL, Housset C, Aït-Slimane T, Meijer L, Falguières T.
Sci Rep. 2019 Apr 30;9(1):6653. doi: 10.1038/s41598-019-43111-y. PMID: 31040306; PMCID: PMC6491434.

Publications 2018

Cholic acid for primary bile acid synthesis defects: a life-saving therapy allowing a favorable outcome in adulthood.
Gonzales E, Matarazzo L, Franchi-Abella S, Dabadie A, Cohen J, Habes D, Hillaire S, Guettier C, Taburet AM, Myara A, Jacquemin E.
Orphanet J Rare Dis. 2018 Oct 29;13(1):190. doi: 10.1186/s13023-018-0920-5. PMID: 30373615; PMCID: PMC6206929.
Mutations in the novel gene FOPV are associated with familial autosomal dominant and non-familial obliterative portal venopathy.
Besmond C, Valla D, Hubert L, Poirier K, Grosse B, Guettier C, Bernard O, Gonzales E, Jacquemin E.
Liver Int. 2018 Feb;38(2):358-364. doi: 10.1111/liv.13547. Epub 2017 Sep 12. PMID: 28792652.

Publications 2017

Cholic Acid to Treat HSD3B7 and AKR1D1 Deficiencies.
Jacquemin E, Gonzales E.
J Pediatr Gastroenterol Nutr. 2017 Dec;65(6):e134. doi: 10.1097/MPG.0000000000001693. PMID: 28727657.
Targeted pharmacotherapies for defective ABC transporters.
Vauthier V, Housset C, Falguières T.
Biochem Pharmacol. 2017 Jul 15;136:1-11. doi: 10.1016/j.bcp.2017.02.020. Epub 2017 Feb 27. PMID: 28245962.
MYO5B mutations cause cholestasis with normal serum gamma-glutamyl transferase activity in children without microvillous inclusion disease.
Gonzales E, Taylor SA, Davit-Spraul A, Thébaut A, Thomassin N, Guettier C, Whitington PF, Jacquemin E.
Hepatology. 2017 Jan;65(1):164-173. doi: 10.1002/hep.28779. Epub 2016 Oct 5. PMID: 27532546.

Publications 2016

Serum Autotaxin Activity Correlates With Pruritus in Pediatric Cholestatic Disorders.
Kremer AE, Gonzales E, Schaap FG, Oude Elferink RP, Jacquemin E, Beuers U.
J Pediatr Gastroenterol Nutr. 2016 Apr;62(4):530-5. doi: 10.1097/MPG.0000000000001044. PMID: 26628447.

Publications 2015

Targeted pharmacotherapy in progressive familial intrahepatic cholestasis type 2: Evidence for improvement of cholestasis with 4-phenylbutyrate.
Gonzales E, Grosse B, Schuller B, Davit-Spraul A, Conti F, Guettier C, Cassio D, Jacquemin E.
Hepatology. 2015 Aug;62(2):558-66. doi: 10.1002/hep.27767. Epub 2015 Apr 8. PMID: 25716872.
 
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