Nicolas CHARLET BERGUERAND

Publications

• 2017

  • Article in a journal

    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
    • Akemi Kanegami
    • Eiichi Tokuda
    • Bita Zamiri
    • Terence Gall-Duncan
    • Mila Mirceta
    • Yoshiaki Furukawa
    • Takanori Yokota
    • Keiji Wada
    • J. Paul Taylor
    • Christopher Pearson
    • Nicolas Charlet-Berguerand
    • Hidehiro Mizusawa
    • Yoshitaka Nagai
    • Kinya Ishikawa

    Neuron ; Volume: 94 ; Page: 108-124.e7

    HAL DOI

  • Article in a journal

    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
    • Philippe Tropel
    • Angeline Gaucherot
    • Hugues Jacobs
    • Hamid Meziane
    • Alexandre Vincent
    • Marie-France Champy
    • Tania Sorg
    • Guillaume Pavlovic
    • Marie Wattenhofer-Donze
    • Marie-Christine Birling
    • Mustapha Oulad-Abdelghani
    • Pascal Eberling
    • Frank Ruffenach
    • Mathilde Joint
    • Mathieu Anheim
    • ...

    Neuron ; Volume: 93 ; Page: 331-347

    HAL DOI

• 2016

  • Article in a journal

    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 ; Volume: 12 ; Page: 1406-1408

    HAL DOI

  • Article in a journal

    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
    • Mustapha Oulad‐abdelghani
    • Frank Ruffenach
    • Adeline Page
    • Sorana Ciura
    • Edor Kabashi
    • Nicolas Charlet‐berguerand

    EMBO Journal ; Volume: 35 ; Page: 1276-1297

    HAL DOI

  • Article in a journal

    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
    • Masayuki Nakamori
    • Yoshihiro Kino
    • Ludovic Arandel
    • Arnaud Jollet
    • Christelle Thibault
    • Muriel Philipps
    • Serge Vicaire
    • Bernard Jost
    • Bjarne Udd
    • John W Day
    • Denis Duboc
    • Karim Wahbi
    • Tsuyoshi Matsumura
    • Harutoshi Fujimura
    • Hideki Mochizuki
    • ...

    Nature Communications ; Volume: 7 ; Page: 11067

    HAL DOI

  • Article in a journal

    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
    • Nicolas Charlet-Berguerand
    • S. L. Sherman
    • R. F. Berman
    • R. Willemsen
    • R. K. Hukema

    Human Reproduction ; Volume: 31 ; Page: 158-68

    HAL DOI

• 2015

  • Article in a journal

    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
    • Ingeborg Nieuwenhuizen-Bakker
    • Rob F.M. Verhagen
    • Lisanne van Dessel
    • Alex Maas
    • Nicolas Charlet-Berguerand
    • Chris de Zeeuw
    • Paul Hagerman
    • Robert Berman
    • Rob Willemsen

    Human Molecular Genetics ; Volume: 24 ; Page: 4948-4957

    HAL DOI

  • Article in a journal

    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
    • Nicolas Charlet-Berguerand
    • Ruben Artero
    • Beatriz Llamusi

    Disease Models & Mechanisms ; Volume: 8 ; Page: 1569–1578

    HAL DOI

• 2014

  • Article in a journal

    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
    • Robert Berman
    • Nicolas Charlet-Berguerand
    • Rob Willemsen
    • Renate Hukema

    Acta Neuropathologica Communications ; Volume: 2

    HAL DOI

  • Article in a journal

    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
    • Dieter Edbauer
    • Alex Maas
    • Nicolas Charlet-Berguerand
    • Rob Willemsen
    • John van Swieten

    Acta Neuropathologica Communications ; Volume: 2

    HAL DOI