Nicolas CHARLET BERGUERAND

Publications

• 2013

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

    • Peter K. Todd
    • Seok Yoon Oh
    • Amy Krans
    • Fang He
    • Chantal Sellier
    • Michelle Frazer
    • Abigail J. Renoux
    • Kai-Chun Chen
    • K. Matthew Scaglione
    • Venkatesha Basrur
    • Kojo Elenitoba-Johnson
    • Jean P. Vonsattel
    • Elan D. Louis
    • Michael A. Sutton
    • J. Paul Taylor
    • Ryan E. Mills
    • Nicolas Charlet-Berguerand
    • Henry L. Paulson

    Neuron ; Volume: 78 ; Page: 440--455

    HAL DOI

• 2012

  • 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
    • Nicolas Charlet-Berguerand
    • Jessica Childs-Disney

    ACS Chemical Biology ; Volume: 7 ; Page: 1711-1718

    HAL DOI

• 2011

  • 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
    • Bernard Jost
    • Doulaye Dembele
    • Geneviève Gourdon
    • Annie Nicole
    • Denis Duboc
    • Karim Wahbi
    • John Day
    • Harutoshi Fujimura
    • Masanori Takahashi
    • Didier Auboeuf
    • Natacha Dreumont
    • Denis Furling
    • Nicolas Charlet-Berguerand

    Nature Structural and Molecular Biology ; Volume: 18 ; Page: 840-845

    HAL DOI

  • 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
    • Anne Toussaint
    • Valérie Tosch
    • Alban Vignaud
    • Arnaud Ferry
    • Nadia Messaddeq
    • Yosuke Kokunai
    • Rie Tsuburaya
    • Pierre de La Grange
    • Doulaye Dembele
    • Virginie Francois
    • Guillaume Precigout
    • Charlotte Boulade-Ladame
    • Marie-Christine Hummel
    • Adolfo Lopez de Munain
    • Nicolas Sergeant
    • ...

    Nature Medicine ; Volume: 17 ; Page: 720-5

    HAL DOI

  • 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
    • A. Sistiaga
    • M. Goicoechea
    • S. Eddarkaoui
    • E. van Brussels
    • H. Obriot
    • A. Labudeck
    • M.H. Gevaert
    • F. Fernandez-Gomez
    • N. Charlet-Berguerand
    • V. Deramecourt
    • C.A. Maurage
    • Luc Buée
    • A. Lopez de Munain
    • B. Sablonnière
    • M.L. Caillet-Boudin
    • ...

    Biochimica et Biophysica Acta - Molecular Basis of Disease

    HAL DOI

  • 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
    • Francisco José Fernandez-Gomez
    • Ludovic Arandel
    • Celine Carpentier
    • Hélène Obriot
    • Sabiha Eddarkaoui
    • Lucie Delattre
    • Edwige van Brussels
    • Ian Holt
    • Glenn E Morris
    • Bernard Sablonnière
    • Luc Buée
    • Nicolas Charlet-Berguerand
    • Susanna Schraen-Maschke
    • Denis Furling
    • Isabelle Behm-Ansmant
    • ...

    Journal of Biological Chemistry ; Volume: 286 ; Page: 16435 - 16446

    HAL DOI

• 2010

  • 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
    • Catherine Le Jossic-Corcos
    • Franco Pagani
    • Claude Ferec
    • Laurent Corcos

    Nucleic Acids Research ; Volume: 38 ; Page: 7273-7285

    HAL DOI

  • 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
    • Renata Gattoni
    • Anne Schneider
    • Stéphane Richard
    • Rob Willemsen
    • David Elliott
    • Paul Hagerman
    • Nicolas Charlet-Berguerand

    EMBO Journal ; Volume: 29 ; Page: 1248-1261

    HAL DOI

• 2008

  • 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
    • O. Leroy
    • J. Delplanque
    • E. Vanbrussel
    • A. Delacourte
    • Patrick Vermersch
    • C. A. Maurage
    • Henri Gruffat
    • A. Sergeant
    • M. S. Mahadevan
    • S. Ishiura
    • Luc Buée
    • T. A. Cooper
    • M. L. Caillet-Boudin
    • Nicolas Charlet-Berguerand
    • B. Sablonnière
    • ...

    Experimental Neurology ; Volume: 210 ; Page: 467-78

    HAL DOI

• 2007

  • 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
    • Astrid R Oudakker
    • Herman Tournaye
    • Nicolas Charlet
    • Clotilde Lagier-Tourenne
    • Hans van Bokhoven
    • Stephane Viville

    American Journal of Human Genetics ; Volume: 81 ; Page: 813-20

    HAL DOI