Skip to main content
Download PDF
- Main
Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export.
- 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
- et al.
Published Web Location
https://doi.org/10.1038/ng.3289Abstract
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.
Many UC-authored scholarly publications are freely available on this site because of the UC's open access policies. Let us know how this access is important for you.
Main Content
For improved accessibility of PDF content, download the file to your device.
Enter the password to open this PDF file:
File name:
-
File size:
-
Title:
-
Author:
-
Subject:
-
Keywords:
-
Creation Date:
-
Modification Date:
-
Creator:
-
PDF Producer:
-
PDF Version:
-
Page Count:
-
Page Size:
-
Fast Web View:
-
Preparing document for printing…
0%