NEDDylation promotes nuclear protein aggregation and protects the Ubiquitin Proteasome System upon proteotoxic stress

por Maghames, Chantal M., Lobato-Gil, Sofia, Perrin, Aurelien, Trauchessec, Helene, Rodriguez, Manuel S., Urbach, Serge, Marin, Philippe, Xirodimas, Dimitris P.
Publicado 2018

The Balance between Mono- and NEDD8-Chains Controlled by NEDP1 upon DNA Damage Is a Regulatory Module of the HSP70 ATPase Activity

por Bailly, Aymeric P., Perrin, Aurelien, Serrano-Macia, Marina, Maghames, Chantal, Leidecker, Orsolya, Trauchessec, Helene, Martinez-Chantar, M.L., Gartner, Anton, Xirodimas, Dimitris P.
Publicado 2019

CTCF modulates allele-specific sub-TAD organization and imprinted gene activity at the mouse Dlk1-Dio3 and Igf2-H19 domains

por Llères, David, Moindrot, Benoît, Pathak, Rakesh, Piras, Vincent, Matelot, Mélody, Pignard, Benoît, Marchand, Alice, Poncelet, Mallory, Perrin, Aurélien, Tellier, Virgile, Feil, Robert, Noordermeer, Daan
Publicado 2019

A new congenital multicore titinopathy associated with fast myosin heavy chain deficiency

por Perrin, Aurélien, Metay, Corinne, Villanova, Marcello, Carlier, Robert‐Yves, Pegoraro, Elena, Juntas Morales, Raul, Stojkovic, Tanya, Richard, Isabelle, Richard, Pascale, Romero, Norma B., Granzier, Henk, Koenig, Michel, Malfatti, Edoardo, Cossée, Mireille
Publicado 2020

Novel dominant distal titinopathy phenotype associated with copy number variation

por Perrin, Aurélien, Juntas Morales, Raul, Chapon, Françoise, Thèze, Corinne, Lacourt, Delphine, Pégeot, Henri, Uro‐Coste, Emmanuelle, Giovannini, Diane, Leboucq, Nicolas, Mallaret, Martial, Lagrange, Emmeline, Rigau, Valérie, Gaudon, Karen, Richard, Pascale, Koenig, Michel, Métay, Corinne, Cossée, Mireille
Publicado 2021

A National French Consensus on Gene List for the Diagnosis of Charcot–Marie–Tooth Disease and Related Disorders Using Next-Generation Sequencing

por Benquey, Thibaut, Pion, Emmanuelle, Cossée, Mireille, Krahn, Martin, Stojkovic, Tanya, Perrin, Aurélien, Cerino, Mathieu, Molon, Annamaria, Lia, Anne-Sophie, Magdelaine, Corinne, Francou, Bruno, Guiochon-Mantel, Anne, Malinge, Marie-Claire, Leguern, Eric, Lévy, Nicolas, Attarian, Shahram, Latour, Philippe, Bonello-Palot, Nathalie
Publicado 2022

SpliceAI-visual: a free online tool to improve SpliceAI splicing variant interpretation

por de Sainte Agathe, Jean-Madeleine, Filser, Mathilde, Isidor, Bertrand, Besnard, Thomas, Gueguen, Paul, Perrin, Aurélien, Van Goethem, Charles, Verebi, Camille, Masingue, Marion, Rendu, John, Cossée, Mireille, Bergougnoux, Anne, Frobert, Laurent, Buratti, Julien, Lejeune, Élodie, Le Guern, Éric, Pasquier, Florence, Clot, Fabienne, Kalatzis, Vasiliki, Roux, Anne-Françoise, Cogné, Benjamin, Baux, David
Publicado 2023

Objective Evaluation of Clinical Actionability for Genes Involved in Myopathies: 63 Genes with a Medical Value for Patient Care

por Vecten, Maude, Pion, Emmanuelle, Bartoli, Marc, Morales, Raul Juntas, Sternberg, Damien, Rendu, John, Stojkovic, Tanya, Bourdain, Cécile Acquaviva, Métay, Corinne, Richard, Isabelle, Cerino, Mathieu, Milh, Mathieu, Campana-Salort, Emmanuelle, Gorokhova, Svetlana, Levy, Nicolas, Latypova, Xénia, Bonne, Gisèle, Biancalana, Valérie, Petit, François, Molon, Annamaria, Perrin, Aurélien, Laforêt, Pascal, Attarian, Shahram, Krahn, Martin, Cossée, Mireille
Publicado 2022

An Integrated Clinical-Biological Approach to Identify Interindividual Variability and Atypical Phenotype-Genotype Correlations in Myopathies: Experience on A Cohort of 156 Familie...

por Juntas Morales, Raul, Perrin, Aurélien, Solé, Guilhem, Lacourt, Delphine, Pegeot, Henri, Walther-Louvier, Ulrike, Cintas, Pascal, Cances, Claude, Espil, Caroline, Theze, Corinne, Zenagui, Reda, Yauy, Kevin, Cosset, Elodie, Renard, Dimitri, Rigau, Valerie, Maues de Paula, Andre, Uro-Coste, Emmanuelle, Arne-Bes, Marie-Christine, Martin Négrier, Marie-Laure, Leboucq, Nicolas, Acket, Blandine, Malfatti, Edoardo, Biancalana, Valérie, Metay, Corinne, Richard, Pascale, Rendu, John, Rivier, François, Koenig, Michel, Cossée, Mireille
Publicado 2021