検索結果 - Charlet-Berguerand, Nicolas

Trinucleotide CGG Repeat Diseases: An Expanding Field of Polyglycine Proteins? 著者: Boivin, Manon, Charlet-Berguerand, Nicolas

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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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Curcumin Regulates the r(CGG)(exp) RNA Hairpin Structure and Ameliorate Defects in Fragile X-Associated Tremor Ataxia Syndrome 著者: Verma, Arun Kumar, Khan, Eshan, Mishra, Subodh Kumar, Mishra, Amit, Charlet-Berguerand, Nicolas, Kumar, Amit

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Homozygous Splice Site Mutation in ZP1 Causes Familial Oocyte Maturation Defect 著者: Okutman, Özlem, Demirel, Cem, Tülek, Firat, Pfister, Veronique, Büyük, Umut, Muller, Jean, Charlet-Berguerand, Nicolas, Viville, Stéphane

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RNA polymerase II bypass of oxidative DNA damage is regulated by transcription elongation factors 著者: Charlet-Berguerand, Nicolas, Feuerhahn, Sascha, Kong, Stephanie E, Ziserman, Howard, Conaway, Joan W, Conaway, Ronald, Egly, Jean Marc

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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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CELF proteins regulate CFTR pre-mRNA splicing: essential role of the divergent domain of ETR-3 著者: Dujardin, Gwendal, Buratti, Emanuele, Charlet-Berguerand, Nicolas, Martins de Araujo, Mafalda, Mbopda, Annick, Le Jossic-Corcos, Catherine, Pagani, Franco, Ferec, Claude, Corcos, Laurent

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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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A new inducible transgenic mouse model for C9orf72-associated GGGGCC repeat expansion supports a gain-of-function mechanism in C9orf72-associated ALS and FTD 著者: Hukema, Renate K, Riemslagh, Fréderike W, Melhem, Shamiram, van der Linde, Herma C, Severijnen, Lies-Anne WFM, Edbauer, Dieter, Maas, Alex, Charlet-Berguerand, Nicolas, Willemsen, Rob, van Swieten, John C

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Distribution of Parkinson’s disease associated RAB39B in mouse brain tissue 著者: Gao, Yujing, Wilson, Gabrielle R., Stephenson, Sarah E. M., Oulad-Abdelghani, Mustapha, Charlet-Berguerand, Nicolas, Bozaoglu, Kiymet, McLean, Catriona A., Thomas, Paul Q., Finkelstein, David I., Lockhart, Paul J.

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Retraction Note to: A new inducible transgenic mouse model for C9orf72-associated GGGGCC repeat expansion supports a gain-of-function mechanism in C9orf72-associated ALS and FTD 著者: Hukema, Renate K., Riemslagh, Fréderike W., Melhem, Shamiram, van der Linde, Herma C., Severijnen, Lies-Anne W. F. M., Edbauer, Dieter, Maas, Alex, Charlet-Berguerand, Nicolas, Willemsen, Rob, van Swieten, John C.

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N-WASP is required for Amphiphysin-2/BIN1-dependent nuclear positioning and triad organization in skeletal muscle and is involved in the pathophysiology of centronuclear myopathy 著者: Falcone, Sestina, Roman, William, Hnia, Karim, Gache, Vincent, Didier, Nathalie, Lainé, Jeanne, Auradé, Frederic, Marty, Isabelle, Nishino, Ichizo, Charlet-Berguerand, Nicolas, Romero, Norma Beatriz, Marazzi, Giovanna, Sassoon, David, Laporte, Jocelyn, Gomes, Edgar R

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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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