Journal
NATURE GENETICS
Volume 47, Issue 6, Pages 579-581Publisher
NATURE PUBLISHING GROUP
DOI: 10.1038/ng.3289
Keywords
-
Categories
Funding
- Lung GO Sequencing Project [HL-102923]
- Women's Health Initiative (WHI) Sequencing Project [HL-102924]
- Broad GO Sequencing Project [HL-102925]
- Seattle GO Sequencing Project [HL-102926]
- Heart GO Sequencing Project [HL-103010]
- US National Institutes of Health/National Institute of Neurological Disorders and Stroke [R01NS040752]
- Association Francaise contre les Myopathies (AFM)
- Ligue Nationale contre le Cancer (Comite de l'Herault)
- Fondation pour la Recherche Medicale (FRM)
- FEDER European Union Languedoc-Roussillon grant
- National Institute of Neurological Disorders and Stroke Informatics Center for Neurogenetics and Neurogenomics [PSNS062691]
- FRM
- Institut National du Cancer (INCa)
- Labex GR-Ex [ANR-11-LABX-0051]
- Labex EpiGenMed [ANR-10-LABX-12-01]
- program 'Investissements d'Avenie' of the French National Research Agency
- INSERM
- Fondo de Investigacion Sanitaria [PI12/00742]
- INNOPHARMA project MINECO-USC
- FEDER funds
- Institute of Health Carlos III-SERGAS
- FACEPE [APQ 1831-4.01/12]
- CNPq [457556/2013-7, 480255/2013-0, 307909/2012-3]
- US National Institutes of Health (National Institute of Mental Health) [K08MH086297]
- US National Institutes of Health (National Institute of Neurological Disorders and Stroke) [R01NS082094]
- University Hospital of Rouen
- French CNR-MAJ
Ask authors/readers for more resources
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.
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available