Group M. Bouchecareilh

Our research focuses on the identification of biomarkers and new therapeutic targets involved in liver physiopathology (Rare disease: Alpha 1-Antitrypsin Deficiency and Cancer: Hepatocellular carcinoma).

Watch the video from ADAAT Alpha 1 France 



Alpha-1-antitrypsin (1AT) deficiency (1ATD) is a rare genetic disorder that manifests as pulmonary emphysema and liver damages (cirrhosis). Given the limited therapeutic options in 1ATD we aim to identify biomarkers, new therapeutic targets and pharmacologic agents able to prevent or cure the different symptoms associated to 1ATD. To address these goals, we use several approaches (exome sequencing, genetic screens and proteomic) and work in closed collaboration with clinical group (Pr Lachaux Team, Children’s Hospital, Lyon), academic team (Gliter lab, Stanford University, USA) and patients association (ADAAT Alpha 1 France).

In parallel, we aim at better understanding the mechanisms of action of two Translation Initiation Factors: eIF3H and eIF3G in liver tumor cells. We use a wide range of biochemical and cell biological methods to identify eIF3H and eIF3G targeted genes and pathways and evaluate their impact on hepatocellular carcinoma progression and development.


Our translational research aims to identify Biomarkers and new Therapeutic Targets involved in Alpha 1-Antitrypsin Deficiency.

Two principal research axes:

• Translational research on Alpha 1-antitrypsin Deficiency using exome sequencing, genetic screens and proteomic approaches.
• eiF3H and eiF3G involvement in liver cancer progression



• Marion organized the first symposium on "Liver rare diseases" in Bordeaux, France / 8 February, 2019.

• Marion presented her data at the 6th Alpha-1 Global Patient Congress: Lisbon, Portugal / 5-8 April, 2017.

Marion’s interview for Alpha 1 Global.




Alexandra LEHMANN - PhD student

Céline LEON - Engineer

Arnaud JABOUILLE - CRCN Inserm


Main publications

  • Karatas E, Raymond AA, Leon C, Dupuy JW, Di-Tommaso S, Senant N, Collardeau-Frachon S, Ruiz M, Lachaux A, Saltel F, Bouchecareilh M. JHep Reports. 3(4):100297 (2021).
  • Joly P, Ruiz M, Garin R, Karatas E, Lachaux A, Restier L, Belmalih A, Renoux C, Lombard C, Dechomet M, Bouchecareilh M. A Particular SORL1 Micro-haplotype May Prevent Severe Liver Disease in a French Cohort of Alpha 1-Antitrypsin-deficient Children. J Pediatr Gastroenterol Nutr. 2021 Sep 1;73(3):e68-e72.
  • Leon C, Bouchecareilh M. The Autophagy Pathway: A Critical Route in the Disposal of Alpha 1-Antitrypsin Aggregates That Holds Many Mysteries. Int J Mol Sci. 2021 Feb 13;22(4):1875. 
  • Bouchecareilh M. Alpha-1 Antitrypsin Deficiency-Mediated Liver Toxicity: Why Do Some Patients Do Poorly? What Do We Know So Far? Chronic Obstr Pulm Dis. 2020 Jul;7(3):172-181.
  • Karatas E, Bouchecareilh M. Alpha 1-Antitrysin Deficiency: A disorder of Proteostasis-Mediated Protein Folding and Trafficking Pathways. Int J Mol Sci. 2020 Feb 21;21(4). Review.
  • E. Karatas, S. Di Tommaso, N. Dugot-Senant, A. Lachaux, M. Bouchecareilh, Overview of Alpha-1 Antitrypsin Deficiency-Mediated Liver Disease, EMJ Hepatol, 2019, 7, 65–79.
  • Ruiz M, Lacaille F, Berthiller J, Joly P, Dumortier J, Aumar M, Bridoux-Henno L, Jacquemin E, Lamireau T, Broué P, Rivet C, Belmalih A, Restier L, Chapuis-Cellier C, Bouchecareilh M, Lachaux A; Groupe Francophone d'Hépatologie Gastroentérologie et Nutrition Pédiatriques. Liver disease related to alpha1-antitrypsin deficiency in French children: the DEFI-ALPHA cohort. Liver Int. 2019 Jun;39(6):1136-1146.
  • Joly P, Lachaux A, Ruiz M, Restier L, Belmalih A, Chapuis-Cellier C, Francina A, Renoux C, Bouchecareilh M. SERPINA1 and MAN1B1 polymorphisms are not linked to severe liver disease in a French cohort of alpha-1 antitrypsin deficiency children. Liver Int. 2017 Nov;37(11):1608-1611.
  • Wang C, Bouchecareilh M, Balch WE. Measuring the Effect of Histone Deacetylase Inhibitors (HDACi) on the Secretion and Activity of Alpha-1 Antitrypsin. Methods Mol Biol. 2017;1639:185-193. doi: 10.1007/978-1-4939-7163-3_18
  • Joly P, Vignaud H, Di Martino J, Ruiz M, Garin R, Restier L, Belmalih A, Marchal C, Cullin C, Arveiler B, Fergelot P, Gitler AD, Lachaux A, Couthouis J, Bouchecareilh M. ERAD defects and the HFE-H63D variant are associated with increased risk of liver damages in Alpha 1-Antitrypsin Deficiency. PLoS One. 2017 Jun 15;12(6):e0179369.
  • Villar VH, Nguyen TL, Delcroix V, Terés S, Bouchecareilh M, Salin B, Bodineau C, Vacher P, Priault M, Soubeyran P, Durán RV. mTOR inhibition protects from glutaminolysis-mediated apoptosis in cancer cells during nutrient limitation. Nat Commun. 2017 Jan 23;8:14124. doi: 10.1038/ncomms14124.
  • Darren M. Hutt, Daniela Martino Roth, Christelle Marchal and Marion Bouchecareilh. Using Histone Deacetylase Inhibitors to Analyze the Relevance of HDACs for Translation. Methods Mol Biol. 2017;1510:77-91.
  • Klionsky DJ et al.,Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition). Autophagy. 2016 Jan 2;12(1):1-222. Vignaud H., Cullin C., Bouchecareilh M. Le Déficit en Alpha 1-Antitrypsine : modèle d’altération de l’homéostasie protéique ou protéostasie. Rev Mal Respir. 2015 Dec;32(10):1059-71.
  • Joly P, Restier L, Bouchecareilh M, Lacan P, Cabet F, Chapuis-Cellier C, Francina A, Lachaux A.DEFI-ALPHA cohort and POLYGEN DEFI-ALPHA clinical research hospital programme. A study about clinical, biological and genetics factors associated with the occurrence and the evolution of hepatic complications in children with alpha-1 antitrypsin deficiency. Rev Mal Respir. 2015 Sep;32(7):759-67.
  • Daniela Martino Roth, Darren M Hutt, Jiansong Tong, Marion Bouchecareilh, Ning Wang, Theo Seeley, Johanna F. Dekkers, Jeffrey M. Beekman, Dan Garza, Lawrence Drew, Eliezer Masliah, Richard I. Morimoto, William E. Balch. “Modulation of the Maladaptive Stress Response to Manage Diseases of Protein Folding”. Plos Biology, 2014 Nov 18;12(11):e1001998.
  • Bouchecareilh, M. Le déficit en Alpha 1-Antitrypsine. Med Sci. 2014 Oct;30(10):889-95.
  • Hutt DM., Roth DM., Cullin, C., Bouchecareilh, M. Hypoxia Inducible Factor 1 alpha is regulated by the Histone Deacetylase Inhibitor Vorinostat. PLoS One. 2014 Aug 28;9(8):e106224.
  • Marion Bouchecareilh, Darren M. Hutt D, Patricia Szajner, Terence R. Flotte, William E. Balch. Histone deacetylase inhibitor (HDACi) suberoylanilide hydroxamic acid (SAHA)-mediated correction of α1-antitrypsin deficiency. J. Biol. Chem. 2012 Nov 2;287(45):38265-78.

Updated on 25/02/2022


Marion Bouchecareilh