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

Crossref DOI link: https://doi.org/10.1038/ng.3289

Published Online: 2015-05-04

Published Print: 2015-06

Update policy: https://doi.org/10.1007/springer_crossmark_policy

Authors

Legati, Andrea

Giovannini, Donatella

Nicolas, Gaël

López-Sánchez, Uriel

Quintáns, Beatriz

Oliveira, João R M

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 https://orcid.org/0000-0003-3616-2338
Geschwind, Daniel H

Battini, Jean-Luc

Coppola, Giovanni https://orcid.org/0000-0003-2105-1061
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Article History

Received: 2 March 2015

Accepted: 6 April 2015

First Online: 4 May 2015

Competing interests

: J.-L.B. and M.S. are inventors on a provisional patent describing the use of ligands, including XRBD, for the analysis of human cells (PCT/EP2010/050139), and M.S. is a co-founder of METAFORA-biosystems, a start-up company that focuses on metabolite transporters under physiological and pathological conditions.