Loss of spatacsin function alters lysosomal lipid clearance leading to upper and lower motor neuron degeneration

por Branchu, Julien, Boutry, Maxime, Sourd, Laura, Depp, Marine, Leone, Céline, Corriger, Alexandrine, Vallucci, Maeva, Esteves, Typhaine, Matusiak, Raphaël, Dumont, Magali, Muriel, Marie-Paule, Santorelli, Filippo M., Brice, Alexis, El Hachimi, Khalid Hamid, Stevanin, Giovanni, Darios, Frédéric
Publicado 2017

Mutations in COPA lead to abnormal trafficking of STING to the Golgi and interferon signaling

por Lepelley, Alice, Martin-Niclós, Maria José, Le Bihan, Melvin, Marsh, Joseph A., Uggenti, Carolina, Rice, Gillian I., Bondet, Vincent, Duffy, Darragh, Hertzog, Jonny, Rehwinkel, Jan, Amselem, Serge, Boulisfane-El Khalifi, Siham, Brennan, Mary, Carter, Edwin, Chatenoud, Lucienne, Chhun, Stéphanie, Coulomb l’Hermine, Aurore, Depp, Marine, Legendre, Marie, Mackenzie, Karen J., Marey, Jonathan, McDougall, Catherine, McKenzie, Kathryn J., Molina, Thierry Jo, Neven, Bénédicte, Seabra, Luis, Thumerelle, Caroline, Wislez, Marie, Nathan, Nadia, Manel, Nicolas, Crow, Yanick J., Frémond, Marie-Louise
Publicado 2020

Type I interferon-mediated autoinflammation due to DNase II deficiency

por Rodero, Mathieu P., Tesser, Alessandra, Bartok, Eva, Rice, Gillian I., Della Mina, Erika, Depp, Marine, Beitz, Benoit, Bondet, Vincent, Cagnard, Nicolas, Duffy, Darragh, Dussiot, Michael, Frémond, Marie-Louise, Gattorno, Marco, Guillem, Flavia, Kitabayashi, Naoki, Porcheray, Fabrice, Rieux-Laucat, Frederic, Seabra, Luis, Uggenti, Carolina, Volpi, Stefano, Zeef, Leo A H., Alyanakian, Marie-Alexandra, Beltrand, Jacques, Bianco, Anna Monica, Boddaert, Nathalie, Brouzes, Chantal, Candon, Sophie, Caorsi, Roberta, Charbit, Marina, Fabre, Monique, Faletra, Flavio, Girard, Muriel, Harroche, Annie, Hartmann, Evelyn, Lasne, Dominique, Marcuzzi, Annalisa, Neven, Bénédicte, Nitschke, Patrick, Pascreau, Tiffany, Pastore, Serena, Picard, Capucine, Picco, Paolo, Piscianz, Elisa, Polak, Michel, Quartier, Pierre, Rabant, Marion, Stocco, Gabriele, Taddio, Andrea, Uettwiller, Florence, Valencic, Erica, Vozzi, Diego, Hartmann, Gunther, Barchet, Winfried, Hermine, Olivier, Bader-Meunier, Brigitte, Tommasini, Alberto, Crow, Yanick J.
Publicado 2017