Interplay between primary familial brain calcification-associated SLC20A2 and XPR1 phosphate transporters requires inositol polyphosphates for control of cellular phosphate homeost...

door López-Sánchez, Uriel, Tury, Sandrine, Nicolas, Gaël, Wilson, Miranda S., Jurici, Snejana, Ayrignac, Xavier, Courgnaud, Valérie, Saiardi, Adolfo, Sitbon, Marc, Battini, Jean-Luc
Gepubliceerd in J Biol Chem (2020)

Characterization of XPR1/SLC53A1 variants located outside of the SPX domain in patients with primary familial brain calcification

door López-Sánchez, Uriel, Nicolas, Gaël, Richard, Anne-Claire, Maltête, David, Charif, Mahmoud, Ayrignac, Xavier, Goizet, Cyril, Touhami, Jawida, Labesse, Gilles, Battini, Jean-Luc, Sitbon, Marc
Gepubliceerd in Sci Rep (2019)

Phosphate Transporter Profiles in Murine and Human Thymi Identify Thymocytes at Distinct Stages of Differentiation

door Machado, Alice, Pouzolles, Marie, Gailhac, Sarah, Fritz, Vanessa, Craveiro, Marco, López-Sánchez, Uriel, Kondo, Taisuke, Pala, Francesca, Bosticardo, Marita, Notarangelo, Luigi D., Petit, Vincent, Taylor, Naomi, Zimmermann, Valérie S.
Gepubliceerd in Front Immunol (2020)

Megabodies expand the nanobody toolkit for protein structure determination by single-particle cryo-EM

door Uchański, Tomasz, Masiulis, Simonas, Fischer, Baptiste, Kalichuk, Valentina, López-Sánchez, Uriel, Zarkadas, Eleftherios, Weckener, Miriam, Sente, Andrija, Ward, Philip, Wohlkönig, Alexandre, Zögg, Thomas, Remaut, Han, Naismith, James H., Nury, Hugues, Vranken, Wim, Aricescu, A. Radu, Pardon, Els, Steyaert, Jan
Gepubliceerd in Nat Methods (2021)

Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export

door Legati, Andrea, Giovannini, Donatella, Nicolas, Gaël, López-Sánchez, Uriel, Quintáns, Beatriz, Oliveira, João, Sears, Renee L., Marisa Ramos, Eliana, Spiteri, Elizabeth, Sobrido, María-Jesús, Carracedo, Ángel, Castro-Fernández, Cristina, Cubizolle, Stéphanie, Fogel, Brent L., Goizet, Cyril, Jen, Joanna C., Kirdlarp, Suppachok, Lang, Anthony E., Miedzybrodzka, Zosia, Mitarnun, Witoon, Paucar, Martin, Paulson, Henry, Pariente, Jérémie, Richard, Anne-Claire, Salins, Naomi S., Simpson, Sheila A., Striano, Pasquale, Svenningsson, Per, Tison, François, Unni, Vivek K., Vanakker, Olivier, Wessels, Marja W., Wetchaphanphesat, Suppachok, Yang, Michele, Boller, Francois, Campion, Dominique, Hannequin, Didier, Sitbon, Marc, Geschwind, Daniel H., Battini, Jean-Luc, Coppola, Giovanni
Gepubliceerd in Nat Genet (2015)