Mutations in XPR1 Cause Primary Familial Brain Calcification Associated With Altered Phosphate Export
Department
neurology
Document Type
Article
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.
Medical Subject Headings
neurology
Publication Date
2015
Publication Title
Nature Genetics
ISSN
1061-4036
Volume
47
Issue
6
First Page
579
Last Page
581
Digital Object Identifier (DOI)
10.1038/ng.3289
Recommended Citation
Legati, Andrea; Giovannini, Donatella; Nicolas, G.; Lopez-Sanchez, Uriel; Quintans, Beatriz; Oliveira, J. R.; Sears, Renee L.; Ramos, Eliana Marisa; Spiteri, Elizabeth; Sobrido, M. J.; Carracedo, Angel; Castro-Fernandez, Cristina; Cubizolle, Stephanie; Fogel, Brent L.; Goizet, Cyril; Jen, Joanna C.; Kirdlarp, Suppachok; Lang, Anthony E.; Salins, Naomi; and al., et, "Mutations in XPR1 Cause Primary Familial Brain Calcification Associated With Altered Phosphate Export" (2015). Neurology. 148.
https://scholar.barrowneuro.org/neurology/148