• Our research theme is: Functional and therapeutic approaches of Proteinopathies and Intellectual Deficiency.
  • Our research projects focus on two main topics:
    • Decipher molecular and pathophysiological mechanisms of these diseases.
    • Identify new therapeutic avenues.

Publications related to intellectual disability and neurodevelopment

  • Marguet F, Friocourt G, Brosolo M, Sauvestre F, Marcorelles P, Lesueur C, Marret S, Gonzalez BJ  and Annie Laquerrière (2020). Prenatal alcohol exposure is a leading cause of interneuronopathy in humans. Acta Neuropathologica Communications, 8(1):208.
  • Zuhra K, Panagaki T, Randi EB, Augsburger F, Blondel M, Friocourt G, Hérault Y and Szabo C (2020). Mechanism of cystathionine-β-synthase inhibition by disulfiram: The role of bis(N,N-diethyldithiocarbamate)-copper(II). Biochem Pharmacol. 182:114267.
  • Maréchal D, Brault V, Léon A, Martin D, Lopes Pereira P, Loaëc N, Birling MC, Friocourt G*, Blondel M* and Hérault Y (2019). Genetic and pharmacological interventions unravel the contribution of Cbs triplication to the cognitive defects in mouse models of Down syndrome through epistatic interaction with Dyrk1a. Hum Mol Genet. 28(9):1561-1577.
  • Curie A*, Friocourt G*, des Portes V, Roy A, Nazir T, Brun A, Cheylus A, Marcorelles P, Retzepi K, Maleki N, Bussy G, Paulignan Y, Reboul A, Ibarrola D, Kong J, Hadjikhani N, Laquerrière A and Gollub R. (2018). Basal ganglia involvement in ARX gene mutated patients: the reason for very specific grasping in ARX mutated patients? Neuroimage: Clinical. 19, 454-465.
  • Dubos A, Meziane H, Iacono G, Curie A, Riet F, Martin C, Loaëc N, Birling MC, Selloum M, Normand E, Pavlovic G, Sorg T, Stunnenberg H, Chelly J, Humeau Y, Friocourt G*, Hérault Y*. (2018). A new mouse model of ARX dup24 recapitulates the patients’ behavioral and fine motor alterations. Hum Mol Genet. 27(12): 2138-2153.
  • Mattiske T, Lee K, Gecz J, Friocourt G and Shoubridge C. (2016). Embryonic forebrain transcriptome of mice with polyalanine expansion mutations in the Arx homeobox gene. Hum Mol Genet. 25(24): 5433-5443.
  • Quéméner-Redon S, Bénech C, Audebert-Bellanger S, Friocourt G, Planes M, Parent P, Férec C. (2013) A small de novo 16q24.1 duplication in a woman with severe clinical features. Eur J Med Genet. 56(4):211-5.
  • Marcorelles P, Laquerrière A, Adde-Michel C, Marret S, Saugier-Veber P, Beldjord C, Friocourt G (2011). Evidence for tangential migration disturbances in human lissencephaly resulting from a defect in LIS1, DCX and ARX genes. Acta Neuropathol. 120(4):503-15.
  • Quillé ML, Carat S, Quéméner-Redon S, Hirchaud E, Baron D, Benech C, Guihot J, Placet M, Mignen O, Férec C, Houlgatte R, Friocourt G (2011). High-throughput analysis of promoter occupancy reveals new targets for Arx, a gene mutated in mental retardation and interneuronopathies. PLoS One 6, e25181.
  • Friocourt G and Parnavelas JG (2011). Identification of Arx targets unveils new candidates for controlling cortical interneuron migration and differentiation. Front. Cell. Neurosci. 5:28.
  • Friocourt G, Marcorelles P, Saugier-Veber P, Quille ML, Marret S, Laquerrière A (2011). Role of cytoskeletal abnormalities in the neuropathology and pathophysiology of type I lissencephaly. Acta Neuropathol. 121(2):149-70.
  • Lecourtois M, Poirier K, Friocourt G, Jaglin X, Goldenberg A, Saugier-Veber P, Chelly J, Laquerrière A. (2010) Human lissencephaly with cerebellar hypoplasia due to mutations in TUBA1A: expansion of the foetal neuropathological phenotype. Acta Neuropathol. 119(6):779-89.
  • Friocourt G and Parnavelas JG (2010). Mutations in ARX result in several defects involving GABAergic neurons. Front. Cell. Neurosci. 4:4.
  • Friocourt G, Kanatani S, Tabata H, Yozu M, Takahashi T, Antypa M, Raguénès O, Chelly J, Férec C, Nakajima K, Parnavelas JG. (2008) Cell-autonomous roles of ARX in cell proliferation and neuronal migration during corticogenesis. J. Neurosci. 28(22), 5794-805.
  • Friocourt G (2007). From genes to human diseases in cortical development. Bioessays. 29, 706-709.
  • Friocourt G, Liu J, Antypa M, Rakic S, Walsh CA and Parnavelas JG. (2007) Both Doublecortin and Doublecortin-like kinase play a role in cortical interneuron migration. J. Neurosci. 27, 3875-3883.
  • Friocourt G, Poirier K, Rakic S, Parnavelas JG and Chelly J. (2006). The role of ARX in brain development. Eur. J. Neurosci. 23, 869-876.
  • Friocourt G, Kappeler C, Saillour Y, Fauchereau F, Rodriguez MS, Bahi N, Vinet MC, Chafey P, Poirier K, Taya, S, Wood, SA, Dargemont C, Francis F and Chelly J. (2005) Doublecortin interacts with the ubiquitin protease DFFRX, which associates with microtubules in neuronal processes. Mol Cell Neurosci. 28, 153-164.
  • Poirier K, Van Esch H, Friocourt G, Saillour Y, Bahi N, Backer S, Souil E, Castelnau-Ptakhine L, Beldjord C, Francis F, Bienvenu T and Chelly J. (2004). Neuroanatomical distribution of ARX in brain and its localisation in GABAergic neurons. Mol. Brain Res. 122, 35-46.
  • Friocourt G, Koulakoff A, Chafey P, Boucher D, Fauchereau F, Chelly J and Francis F (2003). Doublecortin functions at the extremities of growing neuronal processes. Cereb. Cortex 13: 620-626.
  • Bahi N, Friocourt G, Carrié A, Graham ME, Weiss JL, Chafey P, Fauchereau F, Burgoyne RD and Chelly J. (2003). IL1 receptor accessory protein like, a protein involved in X-linked mental retardation, interacts with Neuronal Calcium Sensor-1 and regulates exocytosis. Hum. Mol. Genet. 12, 1415-25.
  • Bienvenu T, Poirier K, Friocourt G, Bahi N, Beaumont D, Fauchereau F, Ben Jeema L, Zemni R, Vinet MC, Francis F, Couvert P, Gomot M, Moraine C, van Bokhoven H, Kalscheuer V, Frints S, Gecz J, Ohzaki K, Chaabouni H, Fryns JP, Des Portes V, Beldjord C, and Chelly J. (2002). ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation. Hum. Mol. Genet. 11, 981-991.
  • Friocourt G, Chafey P, Billuart P, Koulakoff A, Vinet MC, Schaar BT, McConnell SK, Francis F and Chelly J. (2001). Doublecortin interacts with µ Subunits of clathrin adaptor complexes in the developing nervous system. Mol. Cell Neurosci. 18, 307-19.
  • Zemni R, Bienvenu T, Vinet MC, Sefiani A, Carrie A, Billuart P, McDonell N, Couvert P, Francis F, Chafey P, Fauchereau F, Friocourt G, Des Portes V, Cardona A, Frints S, Meindl A, Brandau O, Ronce N, Moraine C, van Bokhoven H, Ropers HH, Sudbrak R, Kahn A, Fryns JP, Beldjord C and Chelly J. (2000). A new gene involved in X-linked mental retardation identified by analysis of an X;2 balanced translocation. Nat. Genet. 24, 167-70.
  • Francis F, Koulakoff A, Boucher D, Chafey P, Schaar B, Vinet MC, Friocourt G, McDonnell N, Reiner O, Kahn A, McConnell SK, Berwald-Netter Y, Denoulet P and Chelly J. (1999). Doublecortin is a developmentally regulated microtubule-associated protein expressed in migrating and differentiating neurons. Neuron 23, 247-256.

Publications related to other research themes

  • Bamia A*, Sinane M*, Naït-Saïdi R, Dhiab J, Kéruzoré M, Nguyen PH, Bertho A, Soubigou F, Halliez S, Blondel M, Trollet C, Simonelig M, Friocourt G, Béringue V, Bihel F, Voisset C. (2021). Anti-prion drugs targeting the protein folding activity of the ribosome reduce PABPN1 2 aggregation. Neurotherapeutics.
  • Billant O, Friocourt G, Roux P, Voisset C. (2021). P53, a victim of the prion fashion. Cancers 13,269.
  • Delerue T, Tribouillard-Tanvier D, Daloyau M, Khosrobakhsh F, Emorine LJ, Friocourt G, Belenguer P, Blondel M, Arnauné-Pelloquin L (2019). A yeast-based screening assay identifies repurposed drugs that suppress mitochondrial fusion and mtDNA maintenance defects. Disease Models & Mechanisms. 12(2).
  • Panozzo C, Laleve A, Tribouillard D, Ostojic J, Sellem C, Friocourt G, Bourand-Plantefol A, Burg A, Delahodde A, Blondel M, Dujardin G. (2017). Chemicals or mutations that target mitochondrial translation can rescue the respiratory deficiency of yeast bcs1 mutants. Biochim Biophys Acta Molecular Cell Research. 1864(12): 2297-2307.
  • Voisset C, Blondel M, Jones GW, Friocourt G, Stahl G, Chédin S, Beringue V, Gillet R. (2017) The double life of the ribosome: when the protein folding activity of the ribosome supports prion propagation. Prion. 11(2):89-97.
  • Blondel M, Soubigou F, Evrard J, Nguyen PH, Hasin N, Chédin S, Gillet R, Contesse MA, Friocourt G, Stahl G, Jones GW, Voisset C (2016). Protein Folding Activity of the Ribosome is involved in Yeast Prion Propagation. Sci. Rep. 6, 32117.
  • Billant O, Léon A, Le Guellec S, Friocourt G, Blondel M, Voisset C (2016). The dominant-negative interplay between p53, p63 and p73: A family affair. Oncotarget 7(43):69549-69564.
  • Lista MJ, Voisset C, Contesse MA, Friocourt G, Daskalogianni C, Bihel F, Fåhraeus R and Blondel M. (2015). The long‐lasting love affair between the budding yeast Saccharomyces cerevisiae and the Epstein‐Barr virus. Biotechnol J. 10(11):1670-81.
  • Marcorelles P, Friocourt G, Uguen A, Ledé F, Férec C, Laquerrière A. (2014) Cystic fibrosis transmembrane conductance regulator protein (CFTR) expression in the developing human brain: comparative immunohistochemical study between patients with normal and mutated CFTR. J Histochem Cytochem. 62(11): 791-801.
  • Marcorelles P, Gillet D, Friocourt G, Ledé F, Samaison L, Huguen G, Ferec C (2012). CFTR protein expression in the male excretory duct system during development. Hum. Pathol. 43(3):390-7.
  • Trouvé P, Le Drévo MA, Kerbiriou M, Friocourt G, Fichou Y, Gillet D, Férec C. (2007) Annexin V interacts with cystic fibrosis transmembrane conductance regulator. Biochim. Biophys. Acta. 1772(10), 1121-1133.
  • Benchoua A, Couriaud C, Guegan C, Tartier L, Couvert P, Friocourt G, Chelly J, Menissier-De Murcia J and Onteniente B. (2002). Active caspase-8 translocates into the nucleus of apoptotic cells to inactivate poly(ADP-ribose) polymerase-2. J. Biol. Chem. 277, 34217-22.
  • Bordet T, Castelnau-Ptakhine L, Fauchereau F, Friocourt G, Kahn A and Haase G. (2001). Neuronal targeting of cardiotrophin-1 by coupling with tetanus toxin C fragment. Mol Cell Neurosci. 17, 842-54.
  • Post-docs

Marc Kéruzoré (2017-2019)


  • PhD students

Marie-Lise Quillé (UBO, 2007-2011)
Alice Léon (UBO, 2015-2018)
Pierre Conan (UBO, 2019-)


  • Master 2 students

Caroline Bohec (Rennes University, 2006)
Alice Léon (UBO, 2015)
Claire Rollet (Magistère européen génétique, université Paris Diderot et Descartes, 2018)
Loubna Chaïr (Magistère européen génétique, université Paris Diderot et Descartes, 2019)
Noéline Caroff (Rennes University, 2021)
Margot Lemarinier (La Rochelle University, 2022)


  • Master 1 students

Morgane Placet (Orléans University, 2010)
Lucie Oger (UBO, 2011)
Chloé L'Hostis (Université d'Aix-Marseille, 2019)
Marie-Sabelle Hjeij (UBO, 2020)


  • Licence students

Caroline Kappeler (Magistère européen génétique, université Paris Diderot, 2001)
Marie-Charlotte Dumargne (Rennes University, 2009)
Morgane Placet (Guingamp university, 2009)
Jeanne Guihot (Rennes University, 2010)
Claire Blondel (INSA Lyon, 2013)
Alice Blondel (ESBS Strasbourg, 2016)
Camille Cossec (INSA Strasbourg, 2018)

Master 1 Médecine (UBO, Brest)
UE Neuroanatomie et Plasticité cérébrale

Master 2 de Neuroscience (Brest, Rennes, Angers, Nantes)
UE Recherche Translationnelle

Ecole d'orthophonie (UBO, Brest)
UE Neurosciences 1
UE Neurosciences 2

Current position
Co-direction of the PRiME Group, BIGG Team, Inserm UMR1078, School of medicine of Brest, France
Research theme: molecular mechanisms and therapeutics of Protein Misfolding Diseases
Lab Director: Emmanuelle Génin


  • BSc in Cell Biology and Physiology, University Paris 7, Paris, France
  • MSc in Cell Biology and Physiology: "Molecular and Cellular Genetics", University Paris 7, Paris, France
  • Diploma of Cellular and Molecular Genetics, Pasteur Institute, Paris, France
  • Magistere of genetics, University Paris 7, Paris, France
  • Master 2 in Human genetics, University Paris 7, Paris, France
  • PhD in Human Genetics, University Paris 7, Paris, France
    • PhD Director: Jamel Chelly (Cochin Institute, Paris, France)
  • Habilitation à Diriger des Recherches (HDR), UBO, Brest

Professional experiences

  • Post-doc in the Department of Anatomy and Developmental Biology, University College London (UCL), United Kingdom
    • Research Theme: Role of interneurons in the pathophysiology of lissencephaly
    • Lab director: John Parnavelas
  • Post-doc, Inserm U613, Brest
    • Research Theme: Functional study of ARX gene in brain development
    • Lab director: Claude Férec
  • Inserm Researcher, Inserm UMR1078
    • Research Theme: Functional study of ARX gene in brain development
    • Lab director: Claude Férec