FXTAS: Size does matter!

по Sellier, Chantal, Charlet-Berguerand, Nicolas
Опубликовано в: Cell Cycle (2014)

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

по Glineburg, M. Rebecca, Todd, Peter K., Charlet-Berguerand, Nicolas, Sellier, Chantal
Опубликовано в: Brain Res (2018)

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

по Ciura, Sorana, Sellier, Chantal, Campanari, Maria-Letizia, Charlet-Berguerand, Nicolas, Kabashi, Edor
Опубликовано в: Autophagy (2016)

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

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

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

по Chakraborty, Mouli, Sellier, Chantal, Ney, Michel, Pascal, Villa, Charlet-Berguerand, Nicolas, Artero, Ruben, Llamusi, Beatriz
Опубликовано в: Dis Model Mech (2018)

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

по Boivin, Manon, Pfister, Véronique, Gaucherot, Angeline, Ruffenach, Frank, Negroni, Luc, Sellier, Chantal, Charlet‐Berguerand, Nicolas
Опубликовано в: EMBO J (2020)

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

по Verma, Arun Kumar, Khan, Eshan, Mishra, Subodh Kumar, Mishra, Amit, Charlet-Berguerand, Nicolas, Kumar, Amit
Опубликовано в: Front Neurosci (2020)

Homozygous Splice Site Mutation in ZP1 Causes Familial Oocyte Maturation Defect

по Okutman, Özlem, Demirel, Cem, Tülek, Firat, Pfister, Veronique, Büyük, Umut, Muller, Jean, Charlet-Berguerand, Nicolas, Viville, Stéphane
Опубликовано в: Genes (Basel) (2020)

RNA polymerase II bypass of oxidative DNA damage is regulated by transcription elongation factors

по Charlet-Berguerand, Nicolas, Feuerhahn, Sascha, Kong, Stephanie E, Ziserman, Howard, Conaway, Joan W, Conaway, Ronald, Egly, Jean Marc
Опубликовано 2006

A Small Molecule that Targets r(CGG)(exp) and Improves Defects in Fragile X-Associated Tremor Ataxia Syndrome

по Disney, Matthew D., Liu, Biao, Yang, Wang-Yong, Sellier, Chantal, Tran, Tuan, Charlet-Berguerand, Nicolas, Childs-Disney, Jessica L.
Опубликовано 2012

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

по Chakraborty, Mouli, Selma-Soriano, Estela, Magny, Emile, Couso, Juan Pablo, Pérez-Alonso, Manuel, Charlet-Berguerand, Nicolas, Artero, Ruben, Llamusi, Beatriz
Опубликовано в: Dis Model Mech (2015)

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

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

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

по 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
Опубликовано 2014

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

по 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
Опубликовано в: Acta Neuropathol Commun (2014)

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

по 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
Опубликовано в: EMBO J (2016)

Sam68 sequestration and partial loss of function are associated with splicing alterations in FXTAS patients

по 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
Опубликовано 2010

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

по 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
Опубликовано в: Acta Neuropathol Commun (2014)

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

по 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.
Опубликовано в: Mol Brain (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

по 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.
Опубликовано в: Acta Neuropathol Commun (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

по 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
Опубликовано в: EMBO Mol Med (2014)