Access content directly




**Nicolas CHARLET-BERGUERAND.** IGBMC, 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: **MAIN RESEARCH AREA** 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. **EDUCATION & EXPERIENCE:** **Since 2007 TEAM LEADER - IGBMC, STRASBOURG, FRANCE.** « Understanding the molecular causes of RNA diseases. » INSTITUT DE GÉNÉTIQUE ET DE BIOLOGIE MOLÉCULAIRE ET CELLULAIRE, CNRS UMR7104, INSERM U1258, Dept. of Translational Medicine, 67404 Illkirch, France. **2004 - 06 POST-DOCTORAL POSITION - IGBMC, STRASBOURG, FRANCE.** « Regulation of the transcriptionnal bypass of DNA oxidative lesions. » INSTITUT DE GÉNÉTIQUE ET DE BIOLOGIE MOLÉCULAIRE ET CELLULAIRE, CNRS UMR7104, INSERM U1258, Dept. of Functional Genomics, 67404 Illkirch, France. Supervisor: Prof. Jean-Marc EGLY. **1999 - 03 SCIENTIFIC COLLABORATION (MILITARY DUTY) – BCM, HOUSTON, USA.** « Alternative splicing alteration in myotonic dystrophic patients.» Baylor College OF Medicine, Dept. of Pathology, 77030 Houston, Texas, USA. Supervisor: Prof. Thomas COOPER. **1996 - 03 PHD - UNIVERSITY OF PARIS VII, FRANCE.** *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. **1995 - 96 MASTER OF SCIENCE (BIOLOGY OF AGING) - UNIVERSITY OF PARIS VII, FRANCE.** *Graduation: Very Good.* **AWARDS, POSITIONS & FELLOWSHIPS:** **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.


Image document

Neuropathology of FMR1 -premutation carriers presenting with dementia and neuropsychiatric symptoms

Anke Dijkstra , Saif Haify , Niek Verwey , Niels Prins , Esmay van Der Toorn
Brain Communications, 2021, 3 (1), pp.fcab007. ⟨10.1093/braincomms/fcab007⟩
Journal articles hal-03339489v1

Expression of expanded FMR1-CGG repeats alters mitochondrial miRNAs and modulates mitochondrial functions and cell death in cellular model of FXTAS

Dhruv Gohel , Lakshmi Sripada , Paresh Prajapati , Fatema Currim , Milton Roy
Free Radical Biology and Medicine, 2021, 165, pp.100-110. ⟨10.1016/j.freeradbiomed.2021.01.038⟩
Journal articles hal-03339492v1
Image document

Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)

Daniel Klionsky , Amal Kamal Abdel-Aziz , Sara Abdelfatah , Mahmoud Abdellatif , Asghar Abdoli
Autophagy, 2021, 17 (1), pp.1-382. ⟨10.1080/15548627.2020.1797280⟩
Journal articles inserm-03285572v1
Image document

Translation of GGC repeat expansions into a toxic polyglycine protein in NIID defines a novel class of human genetic disorders: The polyG diseases

Manon Boivin , Jianwen Deng , Véronique Pfister , Erwan Grandgirard , Mustapha Oulad-Abdelghani
Neuron, 2021, 109 (11), pp.1825-1835.e5. ⟨10.1016/j.neuron.2021.03.038⟩
Journal articles hal-03339485v1

Curcumin Regulates the r(CGG)exp RNA Hairpin Structure and Ameliorate Defects in Fragile X-Associated Tremor Ataxia Syndrome

Arun Kumar Verma , Eshan Khan , Subodh Kumar Mishra , Amit Mishra , Nicolas Charlet-Berguerand
Frontiers in Neuroscience, 2020, 14, ⟨10.3389/fnins.2020.00295⟩
Journal articles hal-03339498v1

The emerging molecular mechanisms for mitochondrial dysfunctions in FXTAS

Dhruv Gohel , Nicolas Charlet Berguerand , Flora Tassone , Rajesh Singh
Biochimica et Biophysica Acta - Molecular Basis of Disease, 2020, 1866 (12), pp.165918. ⟨10.1016/j.bbadis.2020.165918⟩
Journal articles hal-03339494v1

Homozygous Splice Site Mutation in ZP1 Causes Familial Oocyte Maturation Defect

Özlem Okutman , Cem Demirel , Firat Tülek , Veronique Pfister , Umut Büyük
Genes, 2020, 11 (4), pp.382. ⟨10.3390/genes11040382⟩
Journal articles hal-03339501v1
Image document

Distribution of Parkinson's disease associated RAB39B in mouse brain tissue

Yujing Gao , Gabrielle Wilson , Sarah Stephenson , Mustapha Oulad-Abdelghani , Nicolas Charlet-Berguerand
Molecular Brain, 2020, 13 (1), ⟨10.1186/s13041-020-00584-7⟩
Journal articles hal-03339507v1

Reduced autophagy upon C9ORF72 loss synergizes with dipeptide repeat protein toxicity in G4C2 repeat expansion disorders

Manon Boivin , Véronique Pfister , Angeline Gaucherot , Frank Ruffenach , Luc Negroni
EMBO Journal, 2020, 39 (4), ⟨10.15252/embj.2018100574⟩
Journal articles hal-03339509v1
Image document

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

Francesca Mattioli , Gaelle Hayot , Nathalie Drouot , Bertrand Isidor , Jérémie Courraud
American Journal of Human Genetics, 2020, 106 (4), pp.438-452. ⟨10.1016/j.ajhg.2020.02.013⟩
Journal articles hal-03339508v1

FMRpolyG alters mitochondrial transcripts level and respiratory chain complex assembly in Fragile X associated tremor/ataxia syndrome [FXTAS]

Dhruv Gohel , Lakshmi Sripada , Paresh Prajapati , Kritarth Singh , Milton Roy
Biochimica et Biophysica Acta - Molecular Basis of Disease, 2019, 1865 (6), pp.1379-1388. ⟨10.1016/j.bbadis.2019.02.010⟩
Journal articles hal-03339512v1

Novel antibodies reveal presynaptic localization of C9orf72 protein and reduced protein levels in C9orf72 mutation carriers

Petra Frick , Chantal Sellier , Ian Mackenzie , Chieh-Yu Cheng , Julie Tahraoui-Bories
Acta Neuropathologica Communications, 2018, 6 (1), ⟨10.1186/s40478-018-0579-0⟩
Journal articles hal-03339513v1

Repeat-associated non-AUG (RAN) translation and other molecular mechanisms in Fragile X Tremor Ataxia Syndrome

M. Rebecca Glineburg , Peter Todd , Nicolas Charlet-Berguerand , Chantal Sellier
Brain Research, 2018, 1693, pp.43-54. ⟨10.1016/j.brainres.2018.02.006⟩
Journal articles hal-03339526v1
Image document

rbFOX1/MBNL1 competition for CCUG RNA repeats binding contributes to myotonic dystrophy type 1/type 2 differences

Chantal Sellier , Estefanía Cerro-Herreros , Markus Blatter , Fernande Freyermuth , Angeline Gaucherot
Nature Communications, 2018, 9 (1), ⟨10.1038/s41467-018-04370-x⟩
Journal articles hal-03339515v1

Daunorubicin reduces MBNL1 titration by expanded CUG repeat RNA and rescues cardiac dysfunctions in a Drosophila model of myotonic dystrophy

M. Chakraborty , Chantal Sellier , Michel Ney , Pascal Villa , Nicolas Charlet-Berguerand
Disease Models & Mechanisms, 2018, ⟨10.1242/dmm.032557⟩
Journal articles hal-03339524v1

A no-stop mutation in MAGEB4 is a possible cause of rare X-linked azoospermia and oligozoospermia in a consanguineous Turkish family

Ozlem Okutman , Jean Muller , Valerie Skory , Jean Marie Garnier , Angeline Gaucherot
Journal of Assisted Reproduction and Genetics, 2017, 34 (5), pp.683-694. ⟨10.1007/s10815-017-0900-z⟩
Journal articles hal-03339528v1

Regulatory Role of RNA Chaperone TDP-43 for RNA Misfolding and Repeat-Associated Translation in SCA31

Taro Ishiguro , Nozomu Sato , Morio Ueyama , Nobuhiro Fujikake , Chantal Sellier
Neuron, 2017, 94 (1), pp.108-124.e7. ⟨10.1016/j.neuron.2017.02.046⟩
Journal articles hal-03339530v1
Image document

Translation of Expanded CGG Repeats into FMRpolyG Is Pathogenic and May Contribute to Fragile X Tremor Ataxia Syndrome

Chantal Sellier , Ronald Buijsen , Fang He , Sam Natla , Laura Jung
Neuron, 2017, 93 (2), pp.331-347. ⟨10.1016/j.neuron.2016.12.016⟩
Journal articles inserm-03375211v1

Loss of C9 ORF 72 impairs autophagy and synergizes with polyQ Ataxin‐2 to induce motor neuron dysfunction and cell death

Chantal Sellier , Maria‐letizia Campanari , Camille Julie Corbier , Angeline Gaucherot , Isabelle Kolb‐cheynel
EMBO Journal, 2016, 35 (12), pp.1276-1297. ⟨10.15252/embj.201593350⟩
Journal articles hal-03339546v1
Image document

Splicing misregulation of SCN5A contributes to cardiac-conduction delay and heart arrhythmia in myotonic dystrophy

Fernande Freyermuth , Frédérique Rau , Yosuke Kokunai , Thomas Linke , Chantal Sellier
Nature Communications, 2016, 7, pp.11067. ⟨10.1038/ncomms11067⟩
Journal articles hal-01301863v1

The most prevalent genetic cause of ALS-FTD, C9orf72 synergizes the toxicity of ATXN2 intermediate polyglutamine repeats through the autophagy pathway

Sorana Ciura , Chantal Sellier , Maria-Letizia Campanari , Nicolas Charlet-Berguerand , Edor Kabashi
Autophagy, 2016, 12 (8), pp.1406-1408. ⟨10.1080/15548627.2016.1189070⟩
Journal articles hal-03339538v1

Pentamidine rescues contractility and rhythmicity in a Drosophila model of myotonic dystrophy heart dysfunction

Mouli Chakraborty , Estela Selma-Soriano , Emile Magny , Juan Pablo Couso , Manuel Pérez-Alonso
Disease Models & Mechanisms, 2015, ⟨10.1242/dmm.021428⟩
Journal articles hal-03339550v1

Reversibility of neuropathology and motor deficits in an inducible mouse model for FXTAS

Renate Hukema , Ronald A.M. Buijsen , Martijn Schonewille , Chris Raske , Lies-Anne W.F.M. Severijnen
Human Molecular Genetics, 2015, 24 (17), pp.4948-4957. ⟨10.1093/hmg/ddv216⟩
Journal articles hal-03339552v1

FMRpolyG-positive inclusions in CNS and non-CNS organs of a fragile X premutation carrier with fragile X-associated tremor/ataxia syndrome

Ronald Am Buijsen , Chantal Sellier , Lies-Anne Wfm Severijnen , Mustapha Oulad-Abdelghani , Rob Fm Verhagen
Acta Neuropathologica Communications, 2014, 2 (1), ⟨10.1186/s40478-014-0162-2⟩
Journal articles hal-03339558v1

Decreased DGCR8 Expression and miRNA Dysregulation in Individuals with 22q11.2 Deletion Syndrome

Chantal Sellier , Vicki Hwang , Ravi Dandekar , Blythe Durbin-Johnson , Nicolas Charlet-Berguerand
PLoS ONE, 2014, 9 (8), pp.e103884. ⟨10.1371/journal.pone.0103884⟩
Journal articles hal-03339564v1

FXTAS: Size does matter!

Chantal Sellier , Nicolas Charlet-Berguerand
Cell Cycle, 2014, 13 (21), pp.3319-3319. ⟨10.4161/15384101.2014.972920⟩
Journal articles hal-03339556v1

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

Renate Hukema , Fréderike Riemslagh , Shamiram Melhem , Herma van Der Linde , Lies-Anne Wfm Severijnen
Acta Neuropathologica Communications, 2014, 2 (1), ⟨10.1186/s40478-014-0166-y⟩
Journal articles hal-03339555v1

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

Sestina Falcone , William Roman , Karim Hnia , Vincent Gache , Nathalie Didier
EMBO Molecular Medicine, 2014, 6 (11), pp.1455-1475. ⟨10.15252/emmm.201404436⟩
Journal articles hal-03339560v1

The multiple molecular facets of fragile X-associated tremor/ataxia syndrome

Chantal Sellier , Karen Usdin , Chiara Pastori , Veronica Peschansky , Flora Tassone
Journal of Neurodevelopmental Disorders, 2014, 6 (1), ⟨10.1186/1866-1955-6-23⟩
Journal articles hal-03339561v1

Sequestration of DROSHA and DGCR8 by Expanded CGG RNA Repeats Alters MicroRNA Processing in Fragile X-Associated Tremor/Ataxia Syndrome

Chantal Sellier , Fernande Freyermuth , Ricardos Tabet , Tuan Tran , Fang He
Cell Reports, 2013, 3 (3), pp.869-880. ⟨10.1016/j.celrep.2013.02.004⟩
Journal articles hal-03339569v1
Image document

Modeling key pathological features of frontotemporal dementia with C9ORF72 repeat expansion in iPSC-derived human neurons

Sandra Almeida , Eduardo Gascon , Hélène Tran , Hsin Jung Chou , Tania Gendron
Acta Neuropathologica, 2013, 126 (3), pp.385-399. ⟨10.1007/s00401-013-1149-y⟩
Journal articles hal-03339567v1
Image document

The multiple molecular facets of fragile X-associated tremor/ataxia syndrome.

Chantal Sellier , Karen Usdin , Chiara Pastori , Veronica J Peschansky , Flora Tassone
Journal of Neurodevelopmental Disorders, 2013, pp.23
Journal articles inserm-01086046v1

A Small Molecule That Targets r(CGG) exp and Improves Defects in Fragile X-Associated Tremor Ataxia Syndrome

Matthew Disney , Biao Liu , Wang-Yong Yang , Chantal Sellier , Tuan Tran
ACS Chemical Biology, 2012, 7 (10), pp.1711-1718. ⟨10.1021/cb300135h⟩
Journal articles hal-03339570v1

Misregulation of miR-1 processing is associated with heart defects in myotonic dystrophy

Frédérique Rau , Fernande Freyermuth , Charlotte Fugier , Jean-Philippe Villemin , Marie-Christine Fischer
Nature Structural and Molecular Biology, 2011, 18 (7), pp.840-845. ⟨10.1038/nsmb.2067⟩
Journal articles hal-03339571v1
Image document

Analysis of Exonic Regions Involved in Nuclear Localization, Splicing Activity, and Dimerization of Muscleblind-like-1 Isoforms

Helene Tran , Nathalie Gourrier , Camille Lemercier-Neuillet , Claire-Marie Dhaenens , Audrey Vautrin
Journal of Biological Chemistry, 2011, 286 (18), pp.16435 - 16446. ⟨10.1074/jbc.M110.194928⟩
Journal articles hal-01738403v1

Misregulated alternative splicing of BIN1 is associated with T tubule alterations and muscle weakness in myotonic dystrophy.

Charlotte Fugier , Arnaud F Klein , Caroline Hammer , Stéphane Vassilopoulos , Ylva Ivarsson
Nature Medicine, 2011, 17 (6), pp.720-5. ⟨10.1038/nm.2374⟩
Journal articles hal-00811986v1

CELF proteins regulate CFTR pre-mRNA splicing: essential role of the divergent domain of ETR-3

Gwendal Dujardin , Emanuele Buratti , Nicolas Charlet-Berguerand , Mafalda Martins de Araujo , Annick Mbopda
Nucleic Acids Research, 2010, 38 (20), pp.7273-7285. ⟨10.1093/nar/gkq573⟩
Journal articles hal-03339576v1

Sam68 sequestration and partial loss of function are associated with splicing alterations in FXTAS patients

Chantal Sellier , Frédérique Rau , Yilei Liu , Flora Tassone , Renate Hukema
EMBO Journal, 2010, 29 (7), pp.1248-1261. ⟨10.1038/emboj.2010.21⟩
Journal articles hal-03339578v1

Overexpression of MBNL1 fetal isoforms and modified splicing of Tau in the DM1 brain: two individual consequences of CUG trinucleotide repeats.

C. M. Dhaenens , S. Schraen-Maschke , H. Tran , V. Vingtdeux , D. Ghanem
Experimental Neurology, 2008, 210 (2), pp.467-78. ⟨10.1016/j.expneurol.2007.11.020⟩
Journal articles hal-00282892v1

Homozygous mutation in SPATA16 is associated with male infertility in human globozoospermia.

Anika H D M Dam , Isabelle Koscinski , Jan a M Kremer , Celine Moutou , Anne-Sophie Jaeger
American Journal of Human Genetics, 2007, 81 (4), pp.813-20. ⟨10.1086/521314⟩
Journal articles hal-00188891v1

RNA polymerase II bypass of oxidative DNA damage is regulated by transcription elongation factors.

Nicolas Charlet-Berguerand , Sascha Feuerhahn , Stephanie E Kong , Howard Ziserman , Joan W Conaway
EMBO Journal, 2006, 25 (23), pp.5481-91. ⟨10.1038/sj.emboj.7601403⟩
Journal articles hal-00187859v1

Targeted delivery of adenoviral vectors by cytotoxic T cells

Patricia Yotnda , Barbara Savoldo , Nicolas Charlet-Berguerand , Cliona Rooney , Malcolm Brenner
Blood, 2004, 104 (8), pp.2272-2280. ⟨10.1182/blood-2003-11-3803⟩
Journal articles hal-03339583v1

Expression of GFRα1 receptor splicing variants with different biochemical properties is modulated during kidney development

Nicolas Charlet-Berguerand , Hervé Le Hir , Mariarosaria Incoronato , Umberto Di Porzio , Yanbin Yu
Cellular Signalling, 2004, 16 (12), pp.1425-1434. ⟨10.1016/j.cellsig.2004.05.006⟩
Journal articles hal-03339582v1

Muscleblind proteins regulate alternative splicing

Thai Ho , Nicolas Charlet-B , Michael Poulos , Gopal Singh , Maurice Swanson
EMBO Journal, 2004, 23 (15), pp.3103-3112. ⟨10.1038/sj.emboj.7600300⟩
Journal articles hal-03339596v1

Dynamic Antagonism between ETR-3 and PTB Regulates Cell Type-Specific Alternative Splicing

Nicolas Charlet-B , Gopal Singh , Thomas Cooper , Penny Logan
Molecular Cell, 2002, 9 (3), pp.649-658. ⟨10.1016/s1097-2765(02)00479-3⟩
Journal articles hal-03339600v1

5′-End RET Splicing: Absence of Variants in Normal Tissues and Intron Retention in Pheochromocytomas

Hervé Le Hir , Nicolas Charlet-Berguerand , Vittorio de Franciscis , Claude Thermes
Oncology, 2002, 63 (1), pp.84-91. ⟨10.1159/000065725⟩
Journal articles hal-03339610v1

Loss of the Muscle-Specific Chloride Channel in Type 1 Myotonic Dystrophy Due to Misregulated Alternative Splicing

Nicolas Charlet-B. , Rajesh Savkur , Gopal Singh , Anne Philips , Elizabeth Grice
Molecular Cell, 2002, 10 (1), pp.45-53. ⟨10.1016/s1097-2765(02)00572-5⟩
Journal articles hal-03339601v1

The CELF Family of RNA Binding Proteins Is Implicated in Cell-Specific and Developmentally Regulated Alternative Splicing

Andrea Ladd , Nicolas Charlet-B. , Thomas Cooper
Molecular and Cellular Biology, 2001, 21 (4), pp.1285-1296. ⟨10.1128/MCB.21.4.1285-1296.2001⟩
Journal articles hal-03339591v1

Relative Expression of the RET9 and RET51 Isoforms in Human Pheochromocytomas

Hervé Le Hir , Nicolas Charlet-Berguerand , Anne-Paule Gimenez-Roqueplo , Massimo Mannelli , Pierre-François Plouin
Oncology, 2000, 58 (4), pp.311-318. ⟨10.1159/000012118⟩
Journal articles hal-03339608v1

Binding of PurH to a Muscle-specific Splicing Enhancer Functionally Correlates with Exon Inclusion in Vivo

Kathryn Ryan , Nicolas Charlet-B. , Thomas Cooper
Journal of Biological Chemistry, 2000, 275 (27), pp.20618-20626. ⟨10.1074/jbc.M909977199⟩
Journal articles hal-03339604v1

Mechanisms of Transcriptional Activation of the Promoter of the Rainbow Trout Prolactin Gene by GHF1/Pit1 and Glucocorticoid

Francesco Argenton , Nicolas Ramoz , Nicolas Charlet , Serena Bernardini , Lorenzo Colombo
Biochemical and Biophysical Research Communications, 1996, 224 (1), pp.57-66. ⟨10.1006/bbrc.1996.0984⟩
Journal articles hal-03339594v1