학술논문
Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export.
Document Type
article
Author
Legati, Andrea; Giovannini, Donatella; Nicolas, Gaël; López-Sánchez, Uriel; Quintáns, Beatriz; Oliveira, João RM; Sears, Renee L; Ramos, Eliana Marisa; 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
Source
Nature genetics. 47(6)
Subject
Language
Abstract
Primary familial brain calcification (PFBC) is a neurological disease characterized by calcium phosphate deposits in the basal ganglia and other brain regions and has thus far been associated with SLC20A2, PDGFB or PDGFRB mutations. We identified in multiple families with PFBC mutations in XPR1, a gene encoding a retroviral receptor with phosphate export function. These mutations alter phosphate export, implicating XPR1 and phosphate homeostasis in PFBC.