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

por Boivin, Manon, Charlet-Berguerand, Nicolas
Publicado 2022

Repeat-associated non-AUG (RAN) translation and other molecular mechanisms in Fragile X Tremor Ataxia Syndrome

por Glineburg, M. Rebecca, Todd, Peter K., Charlet-Berguerand, Nicolas, Sellier, Chantal
Publicado 2018

The most prevalent genetic cause of ALS-FTD, C9orf72 synergizes the toxicity of ATXN2 intermediate polyglutamine repeats through the autophagy pathway

por Ciura, Sorana, Sellier, Chantal, Campanari, Maria-Letizia, Charlet-Berguerand, Nicolas, Kabashi, Edor
Publicado 2016

The multiple molecular facets of fragile X-associated tremor/ataxia syndrome

por Sellier, Chantal, Usdin, Karen, Pastori, Chiara, Peschansky, Veronica J, Tassone, Flora, Charlet-Berguerand, Nicolas
Publicado 2014

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

por Chakraborty, Mouli, Sellier, Chantal, Ney, Michel, Pascal, Villa, Charlet-Berguerand, Nicolas, Artero, Ruben, Llamusi, Beatriz
Publicado 2018

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

por Boivin, Manon, Pfister, Véronique, Gaucherot, Angeline, Ruffenach, Frank, Negroni, Luc, Sellier, Chantal, Charlet‐Berguerand, Nicolas
Publicado 2020

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

por Verma, Arun Kumar, Khan, Eshan, Mishra, Subodh Kumar, Mishra, Amit, Charlet-Berguerand, Nicolas, Kumar, Amit
Publicado 2020

Homozygous Splice Site Mutation in ZP1 Causes Familial Oocyte Maturation Defect

por Okutman, Özlem, Demirel, Cem, Tülek, Firat, Pfister, Veronique, Büyük, Umut, Muller, Jean, Charlet-Berguerand, Nicolas, Viville, Stéphane
Publicado 2020

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

por Chakraborty, Mouli, Selma-Soriano, Estela, Magny, Emile, Couso, Juan Pablo, Pérez-Alonso, Manuel, Charlet-Berguerand, Nicolas, Artero, Ruben, Llamusi, Beatriz
Publicado 2015

CELF proteins regulate CFTR pre-mRNA splicing: essential role of the divergent domain of ETR-3

por Dujardin, Gwendal, Buratti, Emanuele, Charlet-Berguerand, Nicolas, Martins de Araujo, Mafalda, Mbopda, Annick, Le Jossic-Corcos, Catherine, Pagani, Franco, Ferec, Claude, Corcos, Laurent
Publicado 2010

CGG repeat expansion in NOTCH2NLC causes mitochondrial dysfunction and progressive neurodegeneration in Drosophila model

por Yu, Jiaxi, Liufu, Tongling, Zheng, Yilei, Xu, Jin, Meng, Lingchao, Zhang, Wei, Yuan, Yun, Hong, Daojun, Charlet-Berguerand, Nicolas, Wang, Zhaoxia, Deng, Jianwen
Publicado 2022

Decreased DGCR8 Expression and miRNA Dysregulation in Individuals with 22q11.2 Deletion Syndrome

por 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
Publicado 2014

FMRpolyG-positive inclusions in CNS and non-CNS organs of a fragile X premutation carrier with fragile X-associated tremor/ataxia syndrome

por 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
Publicado 2014

A new inducible transgenic mouse model for C9orf72-associated GGGGCC repeat expansion supports a gain-of-function mechanism in C9orf72-associated ALS and FTD

por 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
Publicado 2014

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

por 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.
Publicado 2020

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

por 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.
Publicado 2016

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

por 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
Publicado 2014

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

por 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
Publicado 2018

Modeling key pathological features of frontotemporal dementia with C9ORF72 repeat expansion in iPSC-derived human neurons

por 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
Publicado 2013

Erratum to: Modeling key pathological features of frontotemporal dementia with C9ORF72 repeat expansion in iPSC-derived human neurons

por 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
Publicado 2014