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An unexpected polyglycine route to spinocerebellar ataxia
Nicolas Charlet-Berguerand
Article dans une revue
hal-04984007
v1
|
|
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
Article dans une revue
hal-04433444
v1
|
|
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.
Article dans une revue
hal-04219176
v1
|
|
Trinucleotide CGG Repeat Diseases: An Expanding Field of Polyglycine Proteins?
Manon Boivin
,
Nicolas Charlet-Berguerand
Article dans une revue
hal-04076612
v1
|
|
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.
Article dans une revue
hal-03850426
v1
|
|
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.
Article dans une revue
hal-03850427
v1
|
|
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.
Article dans une revue
hal-04220480
v1
|
|
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.
Article dans une revue
hal-03339489
v1
|
|
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.
Article dans une revue
hal-03339492
v1
|
|
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.
Article dans une revue
hal-03339485
v1
|
|
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.
Article dans une revue
(article de synthèse)
inserm-03285572
v1
|
|
Homozygous Splice Site Mutation in ZP1 Causes Familial Oocyte Maturation Defect
Özlem Okutman
,
Cem Demirel
,
Firat Tülek
,
Veronique Pfister
,
Umut Büyük
et al.
Article dans une revue
hal-03339501
v1
|
|
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.
Article dans une revue
hal-03339507
v1
|
|
The emerging molecular mechanisms for mitochondrial dysfunctions in FXTAS
Dhruv Gohel
,
Nicolas Charlet Berguerand
,
Flora Tassone
,
Rajesh Singh
Article dans une revue
hal-03339494
v1
|
|
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.
Article dans une revue
hal-03339498
v1
|
|
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.
Article dans une revue
hal-03339509
v1
|
|
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.
Article dans une revue
hal-03339508
v1
|
|
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.
Article dans une revue
hal-03339512
v1
|
|
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
Article dans une revue
hal-03339526
v1
|
|
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.
Article dans une revue
hal-03339513
v1
|
|
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.
Article dans une revue
hal-03339524
v1
|
|
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.
Article dans une revue
hal-03339515
v1
|
|
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.
Article dans une revue
hal-03339530
v1
|
|
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.
Article dans une revue
inserm-03375211
v1
|
|
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.
Article dans une revue
hal-03339528
v1
|
|
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.
Article dans une revue
hal-01301863
v1
|
|
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.
Article dans une revue
hal-03680434
v1
|
|
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
Article dans une revue
hal-03339538
v1
|
|
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.
Article dans une revue
hal-03339546
v1
|
|
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.
Article dans une revue
hal-03339550
v1
|
|
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.
Article dans une revue
hal-03339552
v1
|
|
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.
Article dans une revue
hal-03339560
v1
|
|
FXTAS: Size does matter!
Chantal Sellier
,
Nicolas Charlet-Berguerand
Article dans une revue
hal-03339556
v1
|
|
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.
Article dans une revue
hal-03339564
v1
|
|
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.
Article dans une revue
hal-03339558
v1
|
|
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.
Article dans une revue
hal-01453196
v1
|
|
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.
Article dans une revue
hal-03339555
v1
|
|
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.
Article dans une revue
hal-04975891
v1
|
|
The multiple molecular facets of fragile X-associated tremor/ataxia syndrome.
Chantal Sellier
,
Karen Usdin
,
Chiara Pastori
,
Veronica J Peschansky
,
Flora Tassone
et al.
Article dans une revue
inserm-01086046
v1
|
|
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.
Article dans une revue
hal-03339569
v1
|
|
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.
Article dans une revue
hal-03339567
v1
|
|
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.
Article dans une revue
hal-03339570
v1
|
|
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.
Article dans une revue
hal-01738403
v1
|
|
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.
Article dans une revue
istex
hal-03339571
v1
|
|
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.
Article dans une revue
hal-00694732
v1
|
|
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.
Article dans une revue
hal-00811986
v1
|
|
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.
Article dans une revue
hal-03339576
v1
|
|
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.
Article dans une revue
hal-03339578
v1
|
|
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
et al.
Article dans une revue
istex
hal-00282892
v1
|
|
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.
Article dans une revue
hal-00188891
v1
|
|
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.
Article dans une revue
hal-00187859
v1
|
|
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.
Article dans une revue
istex
hal-03339582
v1
|
|
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
Article dans une revue
hal-03339598
v1
|
|
Muscleblind proteins regulate alternative splicing
Thai Ho
,
Nicolas Charlet-B
,
Michael Poulos
,
Gopal Singh
,
Maurice Swanson
et al.
Article dans une revue
hal-03339596
v1
|
|
Targeted delivery of adenoviral vectors by cytotoxic T cells
Patricia Yotnda
,
Barbara Savoldo
,
Nicolas Charlet-Berguerand
,
Cliona Rooney
,
Malcolm Brenner
Article dans une revue
hal-03339583
v1
|
|
Dynamic Antagonism between ETR-3 and PTB Regulates Cell Type-Specific Alternative Splicing
Nicolas Charlet-B
,
Gopal Singh
,
Thomas Cooper
,
Penny Logan
Article dans une revue
hal-03339600
v1
|
|
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.
Article dans une revue
hal-03339601
v1
|
|
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
Article dans une revue
hal-03339610
v1
|
|
The CELF Family of RNA Binding Proteins Is Implicated in Cell-Specific and Developmentally Regulated Alternative Splicing
Andrea Ladd
,
Nicolas Charlet-B.
,
Thomas Cooper
Article dans une revue
hal-03339591
v1
|
|
Binding of PurH to a Muscle-specific Splicing Enhancer Functionally Correlates with Exon Inclusion in Vivo
Kathryn Ryan
,
Nicolas Charlet-B.
,
Thomas Cooper
Article dans une revue
hal-03339604
v1
|
|
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.
Article dans une revue
hal-03339608
v1
|
|
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.
Article dans une revue
istex
hal-03339594
v1
|