検索結果 - Sellier, Chantal

C9ORF72 is a GDP/GTP exchange factor for Rab8 and Rab39 and regulates autophagy 著者: Corbier, Camille, Sellier, Chantal

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Repeat-associated non-AUG (RAN) translation and other molecular mechanisms in Fragile X Tremor Ataxia Syndrome 著者: Glineburg, M. Rebecca, Todd, Peter K., Charlet-Berguerand, Nicolas, Sellier, Chantal

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The most prevalent genetic cause of ALS-FTD, C9orf72 synergizes the toxicity of ATXN2 intermediate polyglutamine repeats through the autophagy pathway 著者: Ciura, Sorana, Sellier, Chantal, Campanari, Maria-Letizia, Charlet-Berguerand, Nicolas, Kabashi, Edor

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The multiple molecular facets of fragile X-associated tremor/ataxia syndrome 著者: Sellier, Chantal, Usdin, Karen, Pastori, Chiara, Peschansky, Veronica J, Tassone, Flora, Charlet-Berguerand, Nicolas

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Daunorubicin reduces MBNL1 sequestration caused by CUG-repeat expansion and rescues cardiac dysfunctions in a Drosophila model of myotonic dystrophy 著者: Chakraborty, Mouli, Sellier, Chantal, Ney, Michel, Pascal, Villa, Charlet-Berguerand, Nicolas, Artero, Ruben, Llamusi, Beatriz

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Reduced autophagy upon C9ORF72 loss synergizes with dipeptide repeat protein toxicity in G4C2 repeat expansion disorders 著者: Boivin, Manon, Pfister, Véronique, Gaucherot, Angeline, Ruffenach, Frank, Negroni, Luc, Sellier, Chantal, Charlet‐Berguerand, Nicolas

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A Small Molecule that Targets r(CGG)(exp) and Improves Defects in Fragile X-Associated Tremor Ataxia Syndrome 著者: Disney, Matthew D., Liu, Biao, Yang, Wang-Yong, Sellier, Chantal, Tran, Tuan, Charlet-Berguerand, Nicolas, Childs-Disney, Jessica L.

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Decreased DGCR8 Expression and miRNA Dysregulation in Individuals with 22q11.2 Deletion Syndrome 著者: Sellier, Chantal, Hwang, Vicki J., Dandekar, Ravi, Durbin-Johnson, Blythe, Charlet-Berguerand, Nicolas, Ander, Bradley P., Sharp, Frank R., Angkustsiri, Kathleen, Simon, Tony J., Tassone, Flora

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FMRpolyG-positive inclusions in CNS and non-CNS organs of a fragile X premutation carrier with fragile X-associated tremor/ataxia syndrome 著者: Buijsen, Ronald AM, Sellier, Chantal, Severijnen, Lies-Anne WFM, Oulad-Abdelghani, Mustapha, Verhagen, Rob FM, Berman, Robert F, Charlet-Berguerand, Nicolas, Willemsen, Rob, Hukema, Renate K

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

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Sam68 sequestration and partial loss of function are associated with splicing alterations in FXTAS patients 著者: Sellier, Chantal, Rau, Frédérique, Liu, Yilei, Tassone, Flora, Hukema, Renate K, Gattoni, Renata, Schneider, Anne, Richard, Stéphane, Willemsen, Rob, Elliott, David J, Hagerman, Paul J, Charlet-Berguerand, Nicolas

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Novel antibodies reveal presynaptic localization of C9orf72 protein and reduced protein levels in C9orf72 mutation carriers 著者: Frick, Petra, Sellier, Chantal, Mackenzie, Ian R. A., Cheng, Chieh-Yu, Tahraoui-Bories, Julie, Martinat, Cecile, Pasterkamp, R. Jeroen, Prudlo, Johannes, Edbauer, Dieter, Oulad-Abdelghani, Mustapha, Feederle, Regina, Charlet-Berguerand, Nicolas, Neumann, Manuela

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

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Modeling key pathological features of frontotemporal dementia with C9ORF72 repeat expansion in iPSC-derived human neurons 著者: Almeida, Sandra, Gascon, Eduardo, Tran, Hélène, Chou, Hsin Jung, Gendron, Tania F., DeGroot, Steven, Tapper, Andrew R., Sellier, Chantal, Charlet-Berguerand, Nicolas, Karydas, Anna, Seeley, William W., Boxer, Adam L., Petrucelli, Leonard, Miller, Bruce L., Gao, Fen-Biao

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Regulatory Role of RNA Chaperone TDP-43 for RNA Misfolding and Repeat-Associated Translation in SCA31 著者: Ishiguro, Taro, Sato, Nozomu, Ueyama, Morio, Fujikake, Nobuhiro, Sellier, Chantal, Kanegami, Akemi, Tokuda, Eiichi, Zamiri, Bita, Gall-Duncan, Terence, Mirceta, Mila, Furukawa, Yoshiaki, Yokota, Takanori, Wada, Keiji, Taylor, J. Paul, Pearson, Christopher E., Charlet-Berguerand, Nicolas, Mizusawa, Hidehiro, Nagai, Yoshitaka, Ishikawa, Kinya

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

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CGG Repeat Associated Translation Mediates Neurodegeneration in Fragile X Tremor Ataxia Syndrome 著者: Todd, Peter K., Oh, Seok Yoon, Krans, Amy, He, Fang, Sellier, Chantal, Frazer, Michelle, Renoux, Abigail J., Chen, Kai-chun, Scaglione, K. Matthew, Basrur, Venkatesha, Elenitoba-Johnson, Kojo, Vonsattel, Jean P., Louis, Elan D., Sutton, Michael A., Taylor, J. Paul, Mills, Ryan E., Charlet-Berguerand, Nicholas, Paulson, Henry L.

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FUS-mediated regulation of acetylcholine receptor transcription at neuromuscular junctions is compromised in amyotrophic lateral sclerosis 著者: Picchiarelli, Gina, Demestre, Maria, Zuko, Amila, Been, Marije, Higelin, Julia, Dieterlé, Stéphane, Goy, Marc-Antoine, Mallik, Moushami, Sellier, Chantal, Scekic-Zahirovic, Jelena, Zhang, Li, Rosenbohm, Angela, Sijlmans, Céline, Aly, Amr, Mersmann, Sina, Sanjuan-Ruiz, Inmaculada, Hübers, Annemarie, Messaddeq, Nadia, Wagner, Marina, van Bakel, Nick, Boutillier, Anne-Laurence, Ludolph, Albert, Lagier-Tourenne, Clotilde, Boeckers, Tobias M., Dupuis, Luc, Storkebaum, Erik

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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 著者: Mattioli, Francesca, Hayot, Gaelle, Drouot, Nathalie, Isidor, Bertrand, Courraud, Jérémie, Hinckelmann, Maria-Victoria, Mau-Them, Frederic Tran, Sellier, Chantal, Goldman, Alica, Telegrafi, Aida, Boughton, Alicia, Gamble, Candace, Moutton, Sebastien, Quartier, Angélique, Jean, Nolwenn, Van Ness, Paul, Grotto, Sarah, Nambot, Sophie, Douglas, Ganka, Si, Yue Cindy, Chelly, Jamel, Shad, Zohra, Kaplan, Elisabeth, Dineen, Richard, Golzio, Christelle, Charlet-Berguerand, Nicolas, Mandel, Jean-Louis, Piton, Amélie

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

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