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Nicolas CHARLET-BERGUERAND.               



French, Age 48 (Born 1973),                                                                            1 Rue Laurent Fries

Assistant Professor (INSERM DR2)                                                                  67400 ILLKIRCH, France.

ResearcherID: I-6727-2016                                                                              Phone: (+33) 3 88 65 33 09

ORCID ID:                                                      Email:





My researches are mainly focused on “non-coding” genome and human diseases, first in cancer (PhD, University of Paris), then in genetic diseases (post-doctoral training, Baylor college of Medecine). I started my independent group on RNA diseases at the IGBMC (Strasbourg, France) in 2007. Since, we are studying how expanded repeats located in the “non-coding” parts of the genome lead to human genetic diseases. We are notably interested in Myotonic Dystrophy (DM) caused by expanded CTG repeats located in the 3’UTR of the DMPK gene, Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS) due to expanded CGG repeats in the 5’UTR of the FMR1 gene and Amyotrophic Lateral Sclerosis and Frontotemporal Dementia (ALS-FTD) due to GGGGCC expansion in the first intron of the C9ORF72 gene. These expanded repeats are pathogenic by diverse mechanisms, such as non-canonical translation and/ or sequestration of specific RNA-binding proteins. Our goals are (i) to elucidate the molecular causes of these diseases, (ii) to establish relevant cellular and rodent (mouse and rat) models of these diseases and (iii) to identify drugs able to correct pathogenicity in these models.






                        « Understanding the molecular causes of RNA diseases. »


CNRS UMR7104, INSERM U1258, Dept. of Translational Medicine, 67404 Illkirch, France.



« Regulation of the transcriptionnal bypass of DNA oxidative lesions. »


CNRS UMR7104, INSERM U1258, Dept. of Functional Genomics, 67404 Illkirch, France.

                        Supervisor: Prof. Jean-Marc EGLY.



« Alternative splicing alteration in myotonic dystrophic patients.»

                        Baylor College OF Medicine, Dept. of Pathology, 77030 Houston, Texas, USA.

                        Supervisor: Prof. Thomas COOPER.



                        Graduation: Excellent, with the felicitation of the Jury.

« Regulation of RET and GFRa1 alternative spling in pheochromocytomas tumors. »

                        Centre de Génétique Moléculaire, CNRS UPR 2167, 91190 Gif-sur-Yvette, France.

                        Supervisor: Dr. Claude THERMES.



Graduation: Very Good.





2018                 Award of scientific excellence. INSERM prime d'excellence scientifique.

2012                 European Research Council Starting grant.

2012                 INSERM DR2. Group leader permanent position.

2011                 Award of scientific excellence. INSERM prime d'excellence scientifique.

2006                 INSERM CR1. Scientist permanent position.

2006                 Award Georges Deflandre. Foundation de France.

2004 06         ARC post-doctoral fellowship. Foundation against cancer.

1995 – 99         EMRT PhD fellowship. French Ministry of Research and Education.

Journal articles51 documents

  • Anke Dijkstra, Saif Haify, Niek Verwey, Niels Prins, Esmay van der Toorn, et al.. Neuropathology of FMR1 -premutation carriers presenting with dementia and neuropsychiatric symptoms. Brain Communications, Oxford University Press on behalf of the Guarantors of Brain, 2021, 3 (1), ⟨10.1093/braincomms/fcab007⟩. ⟨hal-03339489⟩
  • Manon Boivin, Jianwen Deng, Véronique Pfister, Erwan Grandgirard, Mustapha Oulad-Abdelghani, et al.. Translation of GGC repeat expansions into a toxic polyglycine protein in NIID defines a novel class of human genetic disorders: The polyG diseases. Neuron, Elsevier, 2021, 109 (11), pp.1825-1835.e5. ⟨10.1016/j.neuron.2021.03.038⟩. ⟨hal-03339485⟩
  • Dhruv Gohel, Lakshmi Sripada, Paresh Prajapati, Fatema Currim, Milton Roy, et al.. Expression of expanded FMR1-CGG repeats alters mitochondrial miRNAs and modulates mitochondrial functions and cell death in cellular model of FXTAS. Free Radical Biology and Medicine, Elsevier, 2021, 165, pp.100-110. ⟨10.1016/j.freeradbiomed.2021.01.038⟩. ⟨hal-03339492⟩
  • Daniel Klionsky, Amal Kamal Abdel-Aziz, Sara Abdelfatah, Mahmoud Abdellatif, Asghar Abdoli, et al.. Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition). Autophagy, Taylor & Francis, 2021, 17 (1), pp.1-382. ⟨10.1080/15548627.2020.1797280⟩. ⟨inserm-03285572⟩
  • Yujing Gao, Gabrielle Wilson, Sarah Stephenson, Mustapha Oulad-Abdelghani, Nicolas Charlet-Berguerand, et al.. Distribution of Parkinson’s disease associated RAB39B in mouse brain tissue. Molecular Brain, BioMed Central, 2020, 13 (1), ⟨10.1186/s13041-020-00584-7⟩. ⟨hal-03339507⟩
  • Arun Kumar Verma, Eshan Khan, Subodh Kumar Mishra, Amit Mishra, Nicolas Charlet-Berguerand, et al.. Curcumin Regulates the r(CGG)exp RNA Hairpin Structure and Ameliorate Defects in Fragile X-Associated Tremor Ataxia Syndrome. Frontiers in Neuroscience, Frontiers, 2020, 14, ⟨10.3389/fnins.2020.00295⟩. ⟨hal-03339498⟩
  • Dhruv Gohel, Nicolas Charlet Berguerand, Flora Tassone, Rajesh Singh. The emerging molecular mechanisms for mitochondrial dysfunctions in FXTAS. Biochimica et Biophysica Acta - Molecular Basis of Disease, Elsevier, 2020, 1866 (12), pp.165918. ⟨10.1016/j.bbadis.2020.165918⟩. ⟨hal-03339494⟩
  • Özlem Okutman, Cem Demirel, Firat Tülek, Veronique Pfister, Umut Büyük, et al.. Homozygous Splice Site Mutation in ZP1 Causes Familial Oocyte Maturation Defect. Genes, MDPI, 2020, 11 (4), pp.382. ⟨10.3390/genes11040382⟩. ⟨hal-03339501⟩
  • Manon Boivin, Véronique Pfister, Angeline Gaucherot, Frank Ruffenach, Luc Negroni, et al.. Reduced autophagy upon C9ORF72 loss synergizes with dipeptide repeat protein toxicity in G4C2 repeat expansion disorders. EMBO Journal, EMBO Press, 2020, 39 (4), ⟨10.15252/embj.2018100574⟩. ⟨hal-03339509⟩
  • Francesca Mattioli, Gaelle Hayot, Nathalie Drouot, Bertrand Isidor, Jérémie Courraud, et al.. De Novo Frameshift Variants in the Neuronal Splicing Factor NOVA2 Result in a Common C-Terminal Extension and Cause a Severe Form of Neurodevelopmental Disorder. American Journal of Human Genetics, Elsevier (Cell Press), 2020, 106 (4), pp.438-452. ⟨10.1016/j.ajhg.2020.02.013⟩. ⟨hal-03339508⟩
  • Dhruv Gohel, Lakshmi Sripada, Paresh Prajapati, Kritarth Singh, Milton Roy, et al.. FMRpolyG alters mitochondrial transcripts level and respiratory chain complex assembly in Fragile X associated tremor/ataxia syndrome [FXTAS]. Biochimica et Biophysica Acta - Molecular Basis of Disease, Elsevier, 2019, 1865 (6), pp.1379-1388. ⟨10.1016/j.bbadis.2019.02.010⟩. ⟨hal-03339512⟩
  • Petra Frick, Chantal Sellier, Ian Mackenzie, Chieh-Yu Cheng, Julie Tahraoui-Bories, et al.. Novel antibodies reveal presynaptic localization of C9orf72 protein and reduced protein levels in C9orf72 mutation carriers. Acta Neuropathologica Communications, BioMed Central part of Springer Science, 2018, 6 (1), ⟨10.1186/s40478-018-0579-0⟩. ⟨hal-03339513⟩
  • M. Rebecca Glineburg, Peter Todd, Nicolas Charlet-Berguerand, Chantal Sellier. Repeat-associated non-AUG (RAN) translation and other molecular mechanisms in Fragile X Tremor Ataxia Syndrome. Brain Research, Elsevier, 2018, 1693, pp.43-54. ⟨10.1016/j.brainres.2018.02.006⟩. ⟨hal-03339526⟩
  • M. Chakraborty, Chantal Sellier, Michel Ney, Pascal Villa, Nicolas Charlet-Berguerand, et al.. Daunorubicin reduces MBNL1 titration by expanded CUG repeat RNA and rescues cardiac dysfunctions in a Drosophila model of myotonic dystrophy. Disease Models & Mechanisms, Cambridge Company of Biologists, 2018, ⟨10.1242/dmm.032557⟩. ⟨hal-03339524⟩
  • Chantal Sellier, Estefanía Cerro-Herreros, Markus Blatter, Fernande Freyermuth, Angeline Gaucherot, et al.. rbFOX1/MBNL1 competition for CCUG RNA repeats binding contributes to myotonic dystrophy type 1/type 2 differences. Nature Communications, Nature Publishing Group, 2018, 9 (1), ⟨10.1038/s41467-018-04370-x⟩. ⟨hal-03339515⟩
  • Ozlem Okutman, Jean Muller, Valerie Skory, Jean Marie Garnier, Angeline Gaucherot, et al.. A no-stop mutation in MAGEB4 is a possible cause of rare X-linked azoospermia and oligozoospermia in a consanguineous Turkish family. Journal of Assisted Reproduction and Genetics, Springer Verlag, 2017, 34 (5), pp.683-694. ⟨10.1007/s10815-017-0900-z⟩. ⟨hal-03339528⟩
  • Chantal Sellier, Ronald Buijsen, Fang He, Sam Natla, Laura Jung, et al.. Translation of Expanded CGG Repeats into FMRpolyG Is Pathogenic and May Contribute to Fragile X Tremor Ataxia Syndrome. Neuron, Elsevier, 2017, 93 (2), pp.331-347. ⟨10.1016/j.neuron.2016.12.016⟩. ⟨inserm-03375211⟩
  • Taro Ishiguro, Nozomu Sato, Morio Ueyama, Nobuhiro Fujikake, Chantal Sellier, et al.. Regulatory Role of RNA Chaperone TDP-43 for RNA Misfolding and Repeat-Associated Translation in SCA31. Neuron, Elsevier, 2017, 94 (1), pp.108-124.e7. ⟨10.1016/j.neuron.2017.02.046⟩. ⟨hal-03339530⟩
  • Chantal Sellier, Maria‐letizia Campanari, Camille Julie Corbier, Angeline Gaucherot, Isabelle Kolb‐cheynel, et al.. Loss of C9 ORF 72 impairs autophagy and synergizes with polyQ Ataxin‐2 to induce motor neuron dysfunction and cell death. EMBO Journal, EMBO Press, 2016, 35 (12), pp.1276-1297. ⟨10.15252/embj.201593350⟩. ⟨hal-03339546⟩
  • Sorana Ciura, Chantal Sellier, Maria-Letizia Campanari, Nicolas Charlet-Berguerand, Edor Kabashi. The most prevalent genetic cause of ALS-FTD, C9orf72 synergizes the toxicity of ATXN2 intermediate polyglutamine repeats through the autophagy pathway. Autophagy, Taylor & Francis, 2016, 12 (8), pp.1406-1408. ⟨10.1080/15548627.2016.1189070⟩. ⟨hal-03339538⟩
  • Fernande Freyermuth, Frédérique Rau, Yosuke Kokunai, Thomas Linke, Chantal Sellier, et al.. Splicing misregulation of SCN5A contributes to cardiac-conduction delay and heart arrhythmia in myotonic dystrophy. Nature Communications, Nature Publishing Group, 2016, 7, pp.11067. ⟨10.1038/ncomms11067⟩. ⟨hal-01301863⟩
  • Mouli Chakraborty, Estela Selma-Soriano, Emile Magny, Juan Pablo Couso, Manuel Pérez-Alonso, et al.. Pentamidine rescues contractility and rhythmicity in a Drosophila model of myotonic dystrophy heart dysfunction. Disease Models & Mechanisms, Cambridge Company of Biologists, 2015, ⟨10.1242/dmm.021428⟩. ⟨hal-03339550⟩
  • Renate Hukema, Ronald A.M. Buijsen, Martijn Schonewille, Chris Raske, Lies-Anne W.F.M. Severijnen, et al.. Reversibility of neuropathology and motor deficits in an inducible mouse model for FXTAS. Human Molecular Genetics, Oxford University Press (OUP), 2015, 24 (17), pp.4948-4957. ⟨10.1093/hmg/ddv216⟩. ⟨hal-03339552⟩
  • Renate Hukema, Fréderike Riemslagh, Shamiram Melhem, Herma van der Linde, Lies-Anne Wfm Severijnen, et al.. RETRACTED ARTICLE: A new inducible transgenic mouse model for C9orf72-associated GGGGCC repeat expansion supports a gain-of-function mechanism in C9orf72-associated ALS and FTD. Acta Neuropathologica Communications, BioMed Central part of Springer Science, 2014, 2 (1), ⟨10.1186/s40478-014-0166-y⟩. ⟨hal-03339555⟩
  • Chantal Sellier, Nicolas Charlet-Berguerand. FXTAS: Size does matter!. Cell Cycle, Taylor & Francis, 2014, 13 (21), pp.3319-3319. ⟨10.4161/15384101.2014.972920⟩. ⟨hal-03339556⟩
  • Chantal Sellier, Karen Usdin, Chiara Pastori, Veronica Peschansky, Flora Tassone, et al.. The multiple molecular facets of fragile X-associated tremor/ataxia syndrome. Journal of Neurodevelopmental Disorders, BioMed Central, 2014, 6 (1), ⟨10.1186/1866-1955-6-23⟩. ⟨hal-03339561⟩
  • Chantal Sellier, Vicki Hwang, Ravi Dandekar, Blythe Durbin-Johnson, Nicolas Charlet-Berguerand, et al.. Decreased DGCR8 Expression and miRNA Dysregulation in Individuals with 22q11.2 Deletion Syndrome. PLoS ONE, Public Library of Science, 2014, 9 (8), pp.e103884. ⟨10.1371/journal.pone.0103884⟩. ⟨hal-03339564⟩
  • Ronald Am Buijsen, Chantal Sellier, Lies-Anne Wfm Severijnen, Mustapha Oulad-Abdelghani, Rob Fm Verhagen, et al.. FMRpolyG-positive inclusions in CNS and non-CNS organs of a fragile X premutation carrier with fragile X-associated tremor/ataxia syndrome. Acta Neuropathologica Communications, BioMed Central part of Springer Science, 2014, 2 (1), ⟨10.1186/s40478-014-0162-2⟩. ⟨hal-03339558⟩
  • Sestina Falcone, William Roman, Karim Hnia, Vincent Gache, Nathalie Didier, et al.. N‐ WASP is required for Amphiphysin‐2/ BIN 1‐dependent nuclear positioning and triad organization in skeletal muscle and is involved in the pathophysiology of centronuclear myopathy. EMBO Molecular Medicine, Wiley Open Access, 2014, 6 (11), pp.1455-1475. ⟨10.15252/emmm.201404436⟩. ⟨hal-03339560⟩
  • Sandra Almeida, Eduardo Gascon, Hélène Tran, Hsin Jung Chou, Tania Gendron, et al.. Modeling key pathological features of frontotemporal dementia with C9ORF72 repeat expansion in iPSC-derived human neurons. Acta Neuropathologica, Springer Verlag, 2013, 126 (3), pp.385-399. ⟨10.1007/s00401-013-1149-y⟩. ⟨hal-03339567⟩
  • Chantal Sellier, Fernande Freyermuth, Ricardos Tabet, Tuan Tran, Fang He, et al.. Sequestration of DROSHA and DGCR8 by Expanded CGG RNA Repeats Alters MicroRNA Processing in Fragile X-Associated Tremor/Ataxia Syndrome. Cell Reports, Elsevier Inc, 2013, 3 (3), pp.869-880. ⟨10.1016/j.celrep.2013.02.004⟩. ⟨hal-03339569⟩
  • Chantal Sellier, Karen Usdin, Chiara Pastori, Veronica Peschansky, Flora Tassone, et al.. The multiple molecular facets of fragile X-associated tremor/ataxia syndrome.. Journal of Neurodevelopmental Disorders, BioMed Central, 2013, pp.23. ⟨inserm-01086046⟩
  • Matthew Disney, Biao Liu, Wang-Yong Yang, Chantal Sellier, Tuan Tran, et al.. A Small Molecule That Targets r(CGG) exp and Improves Defects in Fragile X-Associated Tremor Ataxia Syndrome. ACS Chemical Biology, American Chemical Society, 2012, 7 (10), pp.1711-1718. ⟨10.1021/cb300135h⟩. ⟨hal-03339570⟩
  • Frédérique Rau, Fernande Freyermuth, Charlotte Fugier, Jean-Philippe Villemin, Marie-Christine Fischer, et al.. Misregulation of miR-1 processing is associated with heart defects in myotonic dystrophy. Nature Structural and Molecular Biology, Nature Publishing Group, 2011, 18 (7), pp.840-845. ⟨10.1038/nsmb.2067⟩. ⟨hal-03339571⟩
  • Helene Tran, Nathalie Gourrier, Camille Lemercier-Neuillet, Claire-Marie Dhaenens, Audrey Vautrin, et al.. Analysis of Exonic Regions Involved in Nuclear Localization, Splicing Activity, and Dimerization of Muscleblind-like-1 Isoforms. Journal of Biological Chemistry, American Society for Biochemistry and Molecular Biology, 2011, 286 (18), pp.16435 - 16446. ⟨10.1074/jbc.M110.194928⟩. ⟨hal-01738403⟩
  • Charlotte Fugier, Arnaud F Klein, Caroline Hammer, Stéphane Vassilopoulos, Ylva Ivarsson, et al.. Misregulated alternative splicing of BIN1 is associated with T tubule alterations and muscle weakness in myotonic dystrophy.. Nature Medicine, Nature Publishing Group, 2011, 17 (6), pp.720-5. ⟨10.1038/nm.2374⟩. ⟨hal-00811986⟩
  • Gwendal Dujardin, Emanuele Buratti, Nicolas Charlet-Berguerand, Mafalda Martins de Araujo, Annick Mbopda, et al.. CELF proteins regulate CFTR pre-mRNA splicing: essential role of the divergent domain of ETR-3. Nucleic Acids Research, Oxford University Press, 2010, 38 (20), pp.7273-7285. ⟨10.1093/nar/gkq573⟩. ⟨hal-03339576⟩
  • Chantal Sellier, Frédérique Rau, Yilei Liu, Flora Tassone, Renate Hukema, et al.. Sam68 sequestration and partial loss of function are associated with splicing alterations in FXTAS patients. EMBO Journal, EMBO Press, 2010, 29 (7), pp.1248-1261. ⟨10.1038/emboj.2010.21⟩. ⟨hal-03339578⟩
  • C. M. Dhaenens, S. Schraen-Maschke, H. Tran, V. Vingtdeux, D. Ghanem, et al.. Overexpression of MBNL1 fetal isoforms and modified splicing of Tau in the DM1 brain: two individual consequences of CUG trinucleotide repeats.. Experimental Neurology, Elsevier, 2008, 210 (2), pp.467-78. ⟨10.1016/j.expneurol.2007.11.020⟩. ⟨hal-00282892⟩
  • Anika H D M Dam, Isabelle Koscinski, Jan a M Kremer, Celine Moutou, Anne-Sophie Jaeger, et al.. Homozygous mutation in SPATA16 is associated with male infertility in human globozoospermia.. American Journal of Human Genetics, Elsevier (Cell Press), 2007, 81 (4), pp.813-20. ⟨10.1086/521314⟩. ⟨hal-00188891⟩
  • Nicolas Charlet-Berguerand, Sascha Feuerhahn, Stephanie E Kong, Howard Ziserman, Joan W Conaway, et al.. RNA polymerase II bypass of oxidative DNA damage is regulated by transcription elongation factors.. EMBO Journal, EMBO Press, 2006, 25 (23), pp.5481-91. ⟨10.1038/sj.emboj.7601403⟩. ⟨hal-00187859⟩
  • Patricia Yotnda, Barbara Savoldo, Nicolas Charlet-Berguerand, Cliona Rooney, Malcolm Brenner. Targeted delivery of adenoviral vectors by cytotoxic T cells. Blood, American Society of Hematology, 2004, 104 (8), pp.2272-2280. ⟨10.1182/blood-2003-11-3803⟩. ⟨hal-03339583⟩
  • Nicolas Charlet-Berguerand, Hervé Le Hir, Mariarosaria Incoronato, Umberto Di Porzio, Yanbin Yu, et al.. Expression of GFRα1 receptor splicing variants with different biochemical properties is modulated during kidney development. Cellular Signalling, Elsevier, 2004, 16 (12), pp.1425-1434. ⟨10.1016/j.cellsig.2004.05.006⟩. ⟨hal-03339582⟩
  • Thai Ho, Nicolas Charlet-B, Michael Poulos, Gopal Singh, Maurice Swanson, et al.. Muscleblind proteins regulate alternative splicing. EMBO Journal, EMBO Press, 2004, 23 (15), pp.3103-3112. ⟨10.1038/sj.emboj.7600300⟩. ⟨hal-03339596⟩
  • Nicolas Charlet-B, Gopal Singh, Thomas Cooper, Penny Logan. Dynamic Antagonism between ETR-3 and PTB Regulates Cell Type-Specific Alternative Splicing. Molecular Cell, Cell Press, 2002, 9 (3), pp.649-658. ⟨10.1016/s1097-2765(02)00479-3⟩. ⟨hal-03339600⟩
  • Nicolas Charlet-B., Rajesh Savkur, Gopal Singh, Anne Philips, Elizabeth Grice, et al.. Loss of the Muscle-Specific Chloride Channel in Type 1 Myotonic Dystrophy Due to Misregulated Alternative Splicing. Molecular Cell, Cell Press, 2002, 10 (1), pp.45-53. ⟨10.1016/s1097-2765(02)00572-5⟩. ⟨hal-03339601⟩
  • Hervé Le Hir, Nicolas Charlet-Berguerand, Vittorio de Franciscis, Claude Thermes. 5′-End RET Splicing: Absence of Variants in Normal Tissues and Intron Retention in Pheochromocytomas. Oncology, Karger, 2002, 63 (1), pp.84-91. ⟨10.1159/000065725⟩. ⟨hal-03339610⟩
  • Andrea Ladd, Nicolas Charlet-B., Thomas Cooper. The CELF Family of RNA Binding Proteins Is Implicated in Cell-Specific and Developmentally Regulated Alternative Splicing. Molecular and Cellular Biology, American Society for Microbiology, 2001, 21 (4), pp.1285-1296. ⟨10.1128/MCB.21.4.1285-1296.2001⟩. ⟨hal-03339591⟩
  • Hervé Le Hir, Nicolas Charlet-Berguerand, Anne-Paule Gimenez-Roqueplo, Massimo Mannelli, Pierre-François Plouin, et al.. Relative Expression of the RET9 and RET51 Isoforms in Human Pheochromocytomas. Oncology, Karger, 2000, 58 (4), pp.311-318. ⟨10.1159/000012118⟩. ⟨hal-03339608⟩
  • Kathryn Ryan, Nicolas Charlet-B., Thomas Cooper. Binding of PurH to a Muscle-specific Splicing Enhancer Functionally Correlates with Exon Inclusion in Vivo. Journal of Biological Chemistry, American Society for Biochemistry and Molecular Biology, 2000, 275 (27), pp.20618-20626. ⟨10.1074/jbc.M909977199⟩. ⟨hal-03339604⟩
  • Francesco Argenton, Nicolas Ramoz, Nicolas Charlet, Serena Bernardini, Lorenzo Colombo, et al.. Mechanisms of Transcriptional Activation of the Promoter of the Rainbow Trout Prolactin Gene by GHF1/Pit1 and Glucocorticoid. Biochemical and Biophysical Research Communications, Elsevier, 1996, 224 (1), pp.57-66. ⟨10.1006/bbrc.1996.0984⟩. ⟨hal-03339594⟩