Reduced autophagy upon C9ORF72 loss synergizes with dipeptide repeat protein toxicity in G4C2 repeat expansion disorders

door Boivin, Manon, Pfister, Véronique, Gaucherot, Angeline, Ruffenach, Frank, Negroni, Luc, Sellier, Chantal, Charlet‐Berguerand, Nicolas
Gepubliceerd in EMBO J (2020)

Loss of C9ORF72 impairs autophagy and synergizes with polyQ Ataxin‐2 to induce motor neuron dysfunction and cell death

door Sellier, Chantal, Campanari, Maria‐Letizia, Julie Corbier, Camille, Gaucherot, Angeline, Kolb‐Cheynel, Isabelle, Oulad‐Abdelghani, Mustapha, Ruffenach, Frank, Page, Adeline, Ciura, Sorana, Kabashi, Edor, Charlet‐Berguerand, Nicolas
Gepubliceerd in EMBO J (2016)

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

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

FFAT motif phosphorylation controls formation and lipid transfer function of inter‐organelle contacts

door Di Mattia, Thomas, Martinet, Arthur, Ikhlef, Souade, McEwen, Alastair G, Nominé, Yves, Wendling, Corinne, Poussin‐Courmontagne, Pierre, Voilquin, Laetitia, Eberling, Pascal, Ruffenach, Frank, Cavarelli, Jean, Slee, John, Levine, Timothy P, Drin, Guillaume, Tomasetto, Catherine, Alpy, Fabien
Gepubliceerd in EMBO J (2020)

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

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

Translation of GGC repeat expansions into a toxic polyglycine protein in NIID defines a novel class of human genetic disorders: The polyG diseases

door Boivin, Manon, Deng, Jianwen, Pfister, Véronique, Grandgirard, Erwan, Oulad-Abdelghani, Mustapha, Morlet, Bastien, Ruffenach, Frank, Negroni, Luc, Koebel, Pascale, Jacob, Hugues, Riet, Fabrice, Dijkstra, Anke A., McFadden, Kathryn, Clayton, Wiley A., Hong, Daojun, Miyahara, Hiroaki, Iwasaki, Yasushi, Sone, Jun, Wang, Zhaoxia, Charlet-Berguerand, Nicolas
Gepubliceerd in Neuron (2021)

Translation of Expanded CGG Repeats into FMRpolyG Is Pathogenic and May Contribute to Fragile X Tremor Ataxia Syndrome

door Sellier, Chantal, Buijsen, Ronald A.M., He, Fang, Natla, Sam, Jung, Laura, Tropel, Philippe, Gaucherot, Angeline, Jacobs, Hugues, Meziane, Hamid, Vincent, Alexandre, Champy, Marie-France, Sorg, Tania, Pavlovic, Guillaume, Wattenhofer-Donze, Marie, Birling, Marie-Christine, Oulad-Abdelghani, Mustapha, Eberling, Pascal, Ruffenach, Frank, Joint, Mathilde, Anheim, Mathieu, Martinez-Cerdeno, Veronica, Tassone, Flora, Willemsen, Rob, Hukema, Renate K., Viville, Stéphane, Martinat, Cecile, Todd, Peter K., Charlet-Berguerand, Nicolas
Gepubliceerd in Neuron (2017)