NICOLAS CHARLET BERGUERAND

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An unexpected polyglycine route to spinocerebellar ataxia

Nicolas Charlet-Berguerand

Nature Genetics, 2024, 56 (6), pp.1039-1041. ⟨10.1038/s41588-024-01770-2⟩

Article dans une revue hal-04984007v1

A biallelic loss of function variant in HORMAD1 within a large consanguineous Turkish family is associated with spermatogenic arrest

Ozlem Okutman , Manon Boivin , Jean Muller , Nicolas Charlet-Berguerand , Stephane Viville

Human Reproduction, 2023, 38 (2), pp.306-314. ⟨10.1093/humrep/deac259⟩

Article dans une revue hal-04433444v1
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Trinucleotide CGG Repeat Diseases: An Expanding Field of Polyglycine Proteins?

Manon Boivin , Nicolas Charlet-Berguerand

Frontiers in Genetics, 2022, 13, pp.843014. ⟨10.3389/fgene.2022.843014⟩

Article dans une revue hal-04076612v1
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De novo truncating NOVA2 variants affect alternative splicing and lead to heterogeneous neurodevelopmental phenotypes

Marcello Scala , Nathalie Drouot , Suzanna C. Maclennan , Marja W. Wessels , Magdalena Krygier et al.

Human Mutation, 2022, 43 (9), pp.1299-1313. ⟨10.1002/humu.24414⟩

Article dans une revue hal-04219176v1
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Evidence for a fragile X messenger ribonucleoprotein 1 ( FMR1 ) mRNA gain‐of‐function toxicity mechanism contributing to the pathogenesis of fragile X‐associated premature ovarian insufficiency

Roseanne Rosario , Hazel L. Stewart , Nila Roy Choudhury , Gracjan Michlewski , Nicolas Charlet-Berguerand et al.

FASEB Journal, 2022, 36 (11), pp.e22612. ⟨10.1096/fj.202200468RR⟩

Article dans une revue hal-03850426v1
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PolyGA targets the ER stress-adaptive response by impairing GRP75 function at the MAM in C9ORF72-ALS/FTD

Federica Pilotto , Alexander Schmitz , Niran Maharjan , Rim Diab , Adolfo Odriozola et al.

Acta Neuropathologica, 2022, 144 (5), pp.939-966. ⟨10.1007/s00401-022-02494-5⟩

Article dans une revue hal-03850427v1
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CGG repeat expansion in NOTCH2NLC causes mitochondrial dysfunction and progressive neurodegeneration in Drosophila model

Jiaxi Yu , Tongling Liufu , Yilei Zheng , Jin Xu , Lingchao Meng et al.

Proceedings of the National Academy of Sciences of the United States of America, 2022, 119 (41), ⟨10.1073/pnas.2208649119⟩

Article dans une revue hal-04220480v1

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 et al.

Free Radical Biology and Medicine, 2021, 165, pp.100-110. ⟨10.1016/j.freeradbiomed.2021.01.038⟩

Article dans une revue hal-03339492v1
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Neuropathology of FMR1 -premutation carriers presenting with dementia and neuropsychiatric symptoms

Anke Dijkstra , Saif Haify , Niek Verwey , Niels Prins , Esmay van Der Toorn et al.

Brain Communications, 2021, 3 (1), pp.fcab007. ⟨10.1093/braincomms/fcab007⟩

Article dans une revue hal-03339489v1
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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 et al.

Neuron, 2021, 109 (11), pp.1825-1835.e5. ⟨10.1016/j.neuron.2021.03.038⟩

Article dans une revue hal-03339485v1
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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 et al.

Autophagy, 2021, 17 (1), pp.1-382. ⟨10.1080/15548627.2020.1797280⟩

Article dans une revue (article de synthèse) inserm-03285572v1

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⟩

Article dans une revue hal-03339494v1

Homozygous Splice Site Mutation in ZP1 Causes Familial Oocyte Maturation Defect

Özlem Okutman , Cem Demirel , Firat Tülek , Veronique Pfister , Umut Büyük et al.

Genes, 2020, 11 (4), pp.382. ⟨10.3390/genes11040382⟩

Article dans une revue hal-03339501v1
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Distribution of Parkinson's disease associated RAB39B in mouse brain tissue

Yujing Gao , Gabrielle Wilson , Sarah Stephenson , Mustapha Oulad-Abdelghani , Nicolas Charlet-Berguerand et al.

Molecular Brain, 2020, 13 (1), ⟨10.1186/s13041-020-00584-7⟩

Article dans une revue hal-03339507v1
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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 et al.

EMBO Journal, 2020, 39 (4), pp.e100574. ⟨10.15252/embj.2018100574⟩

Article dans une revue hal-03339509v1

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 et al.

Frontiers in Neuroscience, 2020, 14, ⟨10.3389/fnins.2020.00295⟩

Article dans une revue hal-03339498v1
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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 et al.

American Journal of Human Genetics, 2020, 106 (4), pp.438-452. ⟨10.1016/j.ajhg.2020.02.013⟩

Article dans une revue 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 et al.

Biochimica et Biophysica Acta - Molecular Basis of Disease, 2019, 1865 (6), pp.1379-1388. ⟨10.1016/j.bbadis.2019.02.010⟩

Article dans une revue 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 et al.

Acta Neuropathologica Communications, 2018, 6 (1), ⟨10.1186/s40478-018-0579-0⟩

Article dans une revue 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⟩

Article dans une revue hal-03339526v1

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 et al.

Disease Models & Mechanisms, 2018, ⟨10.1242/dmm.032557⟩

Article dans une revue hal-03339524v1
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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 et al.

Nature Communications, 2018, 9 (1), ⟨10.1038/s41467-018-04370-x⟩

Article dans une revue hal-03339515v1

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 et al.

Neuron, 2017, 94 (1), pp.108-124.e7. ⟨10.1016/j.neuron.2017.02.046⟩

Article dans une revue hal-03339530v1
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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 et al.

Neuron, 2017, 93 (2), pp.331-347. ⟨10.1016/j.neuron.2016.12.016⟩

Article dans une revue inserm-03375211v1

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 et al.

Journal of Assisted Reproduction and Genetics, 2017, 34 (5), pp.683-694. ⟨10.1007/s10815-017-0900-z⟩

Article dans une revue hal-03339528v1
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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 et al.

Nature Communications, 2016, 7, pp.11067. ⟨10.1038/ncomms11067⟩

Article dans une revue 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⟩

Article dans une revue hal-03339538v1

Presence of inclusions positive for polyglycine containing protein, FMRpolyG, indicates that repeat-associated non-AUG translation plays a role in fragile X-associated primary ovarian insufficiency

R. A. Buijsen , J. A. Visser , P. Kramer , E. A. Severijnen , M. Gearing et al.

Human Reproduction, 2016, 31 (1), pp.158-68. ⟨10.1093/humrep/dev280⟩

Article dans une revue hal-03680434v1

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 et al.

EMBO Journal, 2016, 35 (12), pp.1276-1297. ⟨10.15252/embj.201593350⟩

Article dans une revue hal-03339546v1
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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 et al.

Disease Models & Mechanisms, 2015, 8 (12), pp.1569-1578. ⟨10.1242/dmm.021428⟩

Article dans une revue 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 et al.

Human Molecular Genetics, 2015, 24 (17), pp.4948-4957. ⟨10.1093/hmg/ddv216⟩

Article dans une revue 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 et al.

Acta Neuropathologica Communications, 2014, 2 (1), ⟨10.1186/s40478-014-0162-2⟩

Article dans une revue hal-03339558v1
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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 et al.

EMBO Molecular Medicine, 2014, 6 (11), pp.1455-1475. ⟨10.15252/emmm.201404436⟩

Article dans une revue hal-03339560v1

FXTAS: Size does matter!

Chantal Sellier , Nicolas Charlet-Berguerand

Cell Cycle, 2014, 13 (21), pp.3319-3319. ⟨10.4161/15384101.2014.972920⟩

Article dans une revue hal-03339556v1
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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 et al.

PLoS ONE, 2014, 9 (8), pp.e103884. ⟨10.1371/journal.pone.0103884⟩

Article dans une revue hal-03339564v1

Tau exon 2 responsive elements deregulated in myotonic dystrophy type I are proximal to exon 2 and synergistically regulated by MBNL1 and MBNL2

C. Carpentier , D. Ghanem , F. J. Fernandez-Gomez , F. Jumeau , J. V. Philippe et al.

Biochimica et Biophysica Acta - Molecular Basis of Disease, 2014, 1842 (4), pp.654-664. ⟨10.1016/j.bbadis.2014.01.004⟩

Article dans une revue hal-01453196v1

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 et al.

Acta Neuropathologica Communications, 2014, 2 (1), ⟨10.1186/s40478-014-0166-y⟩

Article dans une revue hal-03339555v1

CGG Repeat-Associated Translation Mediates Neurodegeneration in Fragile X Tremor Ataxia Syndrome

Peter K. Todd , Seok Yoon Oh , Amy Krans , Fang He , Chantal Sellier et al.

Neuron, 2013, 78 (3), pp.440--455. ⟨10.1016/j.neuron.2013.03.026⟩

Article dans une revue hal-04975891v1
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The multiple molecular facets of fragile X-associated tremor/ataxia syndrome.

Chantal Sellier , Karen Usdin , Chiara Pastori , Veronica J Peschansky , Flora Tassone et al.

Journal of Neurodevelopmental Disorders, 2013, 6 (1), pp.23. ⟨10.1186/1866-1955-6-23⟩

Article dans une revue inserm-01086046v1
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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 et al.

Cell Reports, 2013, 3 (3), pp.869-880. ⟨10.1016/j.celrep.2013.02.004⟩

Article dans une revue hal-03339569v1
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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 et al.

Acta Neuropathologica, 2013, 126 (3), pp.385-399. ⟨10.1007/s00401-013-1149-y⟩

Article dans une revue hal-03339567v1

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 et al.

ACS Chemical Biology, 2012, 7 (10), pp.1711-1718. ⟨10.1021/cb300135h⟩

Article dans une revue hal-03339570v1
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Mis-splicing of Tau exon 10 in myotonic dystrophy type I is reproduced by overexpression of CELF2 but not by MBNL1 silencing

C.M. Dhaenens , H. Tran , M.-L. Frandemiche , C. Carpentier , S. Schraen-Maschke et al.

Biochimica et Biophysica Acta - Molecular Basis of Disease, 2011, ⟨10.1016/j.bbadis.2011.03.010⟩

Article dans une revue hal-00694732v1

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 et al.

Nature Structural and Molecular Biology, 2011, 18 (7), pp.840-845. ⟨10.1038/nsmb.2067⟩

Article dans une revue istex hal-03339571v1
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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 et al.

Journal of Biological Chemistry, 2011, 286 (18), pp.16435 - 16446. ⟨10.1074/jbc.M110.194928⟩

Article dans une revue 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 et al.

Nature Medicine, 2011, 17 (6), pp.720-5. ⟨10.1038/nm.2374⟩

Article dans une revue 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 et al.

Nucleic Acids Research, 2010, 38 (20), pp.7273-7285. ⟨10.1093/nar/gkq573⟩

Article dans une revue 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 et al.

EMBO Journal, 2010, 29 (7), pp.1248-1261. ⟨10.1038/emboj.2010.21⟩

Article dans une revue hal-03339578v1

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

Claire-Marie Dhaenens , Susanna Schraen-Maschke , Ha Tran , Valérie Vingtdeux , Dana Ghanem et al.

Experimental Neurology, 2008, 210 (2), pp.467-478. ⟨10.1016/j.expneurol.2007.11.020⟩

Article dans une revue istex 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 et al.

American Journal of Human Genetics, 2007, 81 (4), pp.813-20. ⟨10.1086/521314⟩

Article dans une revue 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 et al.

EMBO Journal, 2006, 25 (23), pp.5481-91. ⟨10.1038/sj.emboj.7601403⟩

Article dans une revue hal-00187859v1

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 et al.

Cellular Signalling, 2004, 16 (12), pp.1425-1434. ⟨10.1016/j.cellsig.2004.05.006⟩

Article dans une revue istex hal-03339582v1

ETR-3 and CELF4 protein domains required for RNA binding and splicing activity in vivo

G. Singh , Nicolas Charlet-B , Jin Han , Thomas A. Cooper

Nucleic Acids Research, 2004, 32 (3), pp.1232-1241. ⟨10.1093/nar/gkh275⟩

Article dans une revue hal-03339598v1

Muscleblind proteins regulate alternative splicing

Thai Ho , Nicolas Charlet-B , Michael Poulos , Gopal Singh , Maurice Swanson et al.

EMBO Journal, 2004, 23 (15), pp.3103-3112. ⟨10.1038/sj.emboj.7600300⟩

Article dans une revue hal-03339596v1

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⟩

Article dans une revue hal-03339583v1

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⟩

Article dans une revue hal-03339600v1

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 et al.

Molecular Cell, 2002, 10 (1), pp.45-53. ⟨10.1016/s1097-2765(02)00572-5⟩

Article dans une revue hal-03339601v1

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⟩

Article dans une revue hal-03339610v1

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⟩

Article dans une revue hal-03339591v1

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⟩

Article dans une revue hal-03339604v1

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 et al.

Oncology, 2000, 58 (4), pp.311-318. ⟨10.1159/000012118⟩

Article dans une revue hal-03339608v1

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 et al.

Biochemical and Biophysical Research Communications, 1996, 224 (1), pp.57-66. ⟨10.1006/bbrc.1996.0984⟩

Article dans une revue istex hal-03339594v1