Trinucleotide CGG Repeat Diseases: An Expanding Field of Polyglycine Proteins?

by Manon Boivin, Nicolas Charlet-Berguerand
Published 2022-02-01

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

by Arun Kumar Verma, Eshan Khan, Subodh Kumar Mishra, Amit Mishra, Nicolas Charlet-Berguerand, Amit Kumar
Published 2020-04-01

Daunorubicin reduces MBNL1 sequestration caused by CUG-repeat expansion and rescues cardiac dysfunctions in a Drosophila model of myotonic dystrophy

by Mouli Chakraborty, Chantal Sellier, Michel Ney, Villa Pascal, Nicolas Charlet-Berguerand, Ruben Artero, Beatriz Llamusi
Published 2018-04-01

Homozygous Splice Site Mutation in <i>ZP1</i> Causes Familial Oocyte Maturation Defect

by Özlem Okutman, Cem Demirel, Firat Tülek, Veronique Pfister, Umut Büyük, Jean Muller, Nicolas Charlet-Berguerand, Stéphane Viville
Published 2020-04-01

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

by Mouli Chakraborty, Estela Selma-Soriano, Emile Magny, Juan Pablo Couso, Manuel Pérez-Alonso, Nicolas Charlet-Berguerand, Ruben Artero, Beatriz Llamusi
Published 2015-12-01

Decreased DGCR8 expression and miRNA dysregulation in individuals with 22q11.2 deletion syndrome.

by Chantal Sellier, Vicki J Hwang, Ravi Dandekar, Blythe Durbin-Johnson, Nicolas Charlet-Berguerand, Bradley P Ander, Frank R Sharp, Kathleen Angkustsiri, Tony J Simon, Flora Tassone
Published 2014-01-01

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

by Yujing Gao, Gabrielle R. Wilson, Sarah E. M. Stephenson, Mustapha Oulad-Abdelghani, Nicolas Charlet-Berguerand, Kiymet Bozaoglu, Catriona A. McLean, Paul Q. Thomas, David I. Finkelstein, Paul J. Lockhart
Published 2020-03-01

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

by Petra Frick, Chantal Sellier, Ian R. A. Mackenzie, Chieh-Yu Cheng, Julie Tahraoui-Bories, Cecile Martinat, R. Jeroen Pasterkamp, Johannes Prudlo, Dieter Edbauer, Mustapha Oulad-Abdelghani, Regina Feederle, Nicolas Charlet-Berguerand, Manuela Neumann
Published 2018-08-01

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

by Chantal Sellier, Fernande Freyermuth, Ricardos Tabet, Tuan Tran, Fang He, Frank Ruffenach, Violaine Alunni, Herve Moine, Christelle Thibault, Adeline Page, Flora Tassone, Rob Willemsen, Matthew D. Disney, Paul J. Hagerman, Peter K. Todd, Nicolas Charlet-Berguerand
Published 2013-03-01

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

by Chantal Sellier, Estefanía Cerro-Herreros, Markus Blatter, Fernande Freyermuth, Angeline Gaucherot, Frank Ruffenach, Partha Sarkar, Jack Puymirat, Bjarne Udd, John W. Day, Giovanni Meola, Guillaume Bassez, Harutoshi Fujimura, Masanori P. Takahashi, Benedikt Schoser, Denis Furling, Ruben Artero, Frédéric H. T. Allain, Beatriz Llamusi, Nicolas Charlet-Berguerand
Published 2018-05-01

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

by 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, François Deryckere, Takashi Kimura, Nobuyuki Nukina, Shoichi Ishiura, Vincent Lacroix, Amandine Campan-Fournier, Vincent Navratil, Emilie Chautard, Didier Auboeuf, Minoru Horie, Keiji Imoto, Kuang-Yung Lee, Maurice S. Swanson, Adolfo Lopez de Munain, Shin Inada, Hideki Itoh, Kazuo Nakazawa, Takashi Ashihara, Eric Wang, Thomas Zimmer, Denis Furling, Masanori P. Takahashi, Nicolas Charlet-Berguerand
Published 2016-04-01