High N-glycan multiplicity is critical for neuronal adhesion and sensitizes the developing cerebellum to N-glycosylation defect

por Medina-Cano, Daniel, Ucuncu, Ekin, Nguyen, Lam Son, Nicouleau, Michael, Lipecka, Joanna, Bizot, Jean-Charles, Thiel, Christian, Foulquier, François, Lefort, Nathalie, Faivre-Sarrailh, Catherine, Colleaux, Laurence, Guerrera, Ida Chiara, Cantagrel, Vincent
Publicado 2018

MINPP1 prevents intracellular accumulation of the chelator inositol hexakisphosphate and is mutated in Pontocerebellar Hypoplasia

por Ucuncu, Ekin, Rajamani, Karthyayani, Wilson, Miranda S. C., Medina-Cano, Daniel, Altin, Nami, David, Pierre, Barcia, Giulia, Lefort, Nathalie, Banal, Céline, Vasilache-Dangles, Marie-Thérèse, Pitelet, Gaële, Lorino, Elsa, Rabasse, Nathalie, Bieth, Eric, Zaki, Maha S., Topcu, Meral, Sonmez, Fatma Mujgan, Musaev, Damir, Stanley, Valentina, Bole-Feysot, Christine, Nitschké, Patrick, Munnich, Arnold, Bahi-Buisson, Nadia, Fossoud, Catherine, Giuliano, Fabienne, Colleaux, Laurence, Burglen, Lydie, Gleeson, Joseph G., Boddaert, Nathalie, Saiardi, Adolfo, Cantagrel, Vincent
Publicado 2020

UNC45A deficiency causes microvillus inclusion disease–like phenotype by impairing myosin VB–dependent apical trafficking

por Duclaux-Loras, Rémi, Lebreton, Corinne, Berthelet, Jérémy, Charbit-Henrion, Fabienne, Nicolle, Ophelie, Revenu des Courtils, Céline, Waich, Stephanie, Valovka, Taras, Khiat, Anis, Rabant, Marion, Racine, Caroline, Guerrera, Ida Chiara, Baptista, Júlia, Mahe, Maxime M., Hess, Michael W., Durel, Béatrice, Lefort, Nathalie, Banal, Céline, Parisot, Mélanie, Talbotec, Cecile, Lacaille, Florence, Ecochard-Dugelay, Emmanuelle, Demir, Arzu Meltem, Vogel, Georg F., Faivre, Laurence, Rodrigues, Astor, Fowler, Darren, Janecke, Andreas R., Müller, Thomas, Huber, Lukas A., Rodrigues-Lima, Fernando, Ruemmele, Frank M., Uhlig, Holm H., Del Bene, Filippo, Michaux, Grégoire, Cerf-Bensussan, Nadine, Parlato, Marianna
Publicado 2022