Biochemical consequences of two clinically relevant ND-gene mutations in Escherichia coli respiratory complex I

por Franziska Nuber, Johannes Schimpf, Jean-Paul di Rago, Déborah Tribouillard-Tanvier, Vincent Procaccio, Marie-Laure Martin-Negrier, Aurélien Trimouille, Olivier Biner, Christoph von Ballmoos, Thorsten Friedrich
Publicado 2021

ACO2 clinicobiological dataset with extensive phenotype ontology annotation

por Khadidja Guehlouz, Thomas Foulonneau, Patrizia Amati-Bonneau, Majida Charif, Estelle Colin, Céline Bris, Valérie Desquiret-Dumas, Dan Milea, Philippe Gohier, Vincent Procaccio, Dominique Bonneau, Johan T. den Dunnen, Guy Lenaers, Pascal Reynier, Marc Ferré
Publicado 2021

Co-Exposure of Cardiomyocytes to IFN-γ and TNF-α Induces Mitochondrial Dysfunction and Nitro-Oxidative Stress: Implications for the Pathogenesis of Chronic Chagas Disease Cardiomyo...

por João Paulo Silva Nunes, João Paulo Silva Nunes, João Paulo Silva Nunes, João Paulo Silva Nunes, Pauline Andrieux, Pauline Brochet, Rafael Ribeiro Almeida, Rafael Ribeiro Almeida, Eduardo Kitano, André Kenji Honda, Leo Kei Iwai, Débora Andrade-Silva, David Goudenège, Karla Deysiree Alcântara Silva, Karla Deysiree Alcântara Silva, Raquel de Souza Vieira, Débora Levy, Sergio Paulo Bydlowski, Frédéric Gallardo, Magali Torres, Edimar Alcides Bocchi, Miguel Mano, Ronaldo Honorato Barros Santos, Fernando Bacal, Pablo Pomerantzeff, Francisco Rafael Martins Laurindo, Priscila Camillo Teixeira, Helder I. Nakaya, Jorge Kalil, Jorge Kalil, Jorge Kalil, Vincent Procaccio, Christophe Chevillard, Edecio Cunha-Neto, Edecio Cunha-Neto, Edecio Cunha-Neto
Publicado 2021

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

por Vincenzo Salpietro, Christine L. Dixon, Hui Guo, Oscar D. Bello, Jana Vandrovcova, Stephanie Efthymiou, Reza Maroofian, Gali Heimer, Lydie Burglen, Stephanie Valence, Erin Torti, Moritz Hacke, Julia Rankin, Huma Tariq, Estelle Colin, Vincent Procaccio, Pasquale Striano, Kshitij Mankad, Andreas Lieb, Sharon Chen, Laura Pisani, Conceicao Bettencourt, Roope Männikkö, Andreea Manole, Alfredo Brusco, Enrico Grosso, Giovanni Battista Ferrero, Judith Armstrong-Moron, Sophie Gueden, Omer Bar-Yosef, Michal Tzadok, Kristin G. Monaghan, Teresa Santiago-Sim, Richard E. Person, Megan T. Cho, Rebecca Willaert, Yongjin Yoo, Jong-Hee Chae, Yingting Quan, Huidan Wu, Tianyun Wang, Raphael A. Bernier, Kun Xia, Alyssa Blesson, Mahim Jain, Mohammad M. Motazacker, Bregje Jaeger, Amy L. Schneider, Katja Boysen, Alison M. Muir, Candace T. Myers, Ralitza H. Gavrilova, Lauren Gunderson, Laura Schultz-Rogers, Eric W. Klee, David Dyment, Matthew Osmond, Mara Parellada, Cloe Llorente, Javier Gonzalez-Peñas, Angel Carracedo, Arie Van Haeringen, Claudia Ruivenkamp, Caroline Nava, Delphine Heron, Rosaria Nardello, Michele Iacomino, Carlo Minetti, Aldo Skabar, Antonella Fabretto, SYNAPS Study Group, Miquel Raspall-Chaure, Michael Chez, Anne Tsai, Emily Fassi, Marwan Shinawi, John N. Constantino, Rita De Zorzi, Sara Fortuna, Fernando Kok, Boris Keren, Dominique Bonneau, Murim Choi, Bruria Benzeev, Federico Zara, Heather C. Mefford, Ingrid E. Scheffer, Jill Clayton-Smith, Alfons Macaya, James E. Rothman, Evan E. Eichler, Dimitri M. Kullmann, Henry Houlden
Publicado 2019