ArticleNature genetics2015
Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export.
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Article in Nature genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 171 papers, 1 of them a synthesis that pooled it.
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171citing papers in PubMed, 1 pooled it
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171 citing papers in PubMed, 1 synthesis or guideline pooled it, 309 citations in OpenAlex.
- Gene Variants Related to Primary Familial Brain Calcification: Perspectives from Bibliometrics and Meta-Analysis.eNeuro · 2025Pooled it
- The SLC-ome of membrane transport: from molecular discovery to physiology and clinical applications.Physiological reviews · 2026Review
- Brain calcification-associated JAM2 pathogenic mutations impair JAM2-JAM3 tight junction structure and the blood-brain barrier integrity.Brain pathology (Zurich, Switzerland) · 2026Article
- Biallelic SLC20A2 loss-of-function in severe early-onset neurodevelopmental disorder with brain calcification.Journal of human genetics · 2026Article
- The PHO1 protein family in phosphate export and beyond.Plant physiology · 2026Review
- Primary Brain Calcification Associated with a Novel XPR1 In-Frame Deletion: Clinical Characterization and Insights into Cerebellar and Basal Ganglia Contributions.Cerebellum (London, England) · 2026Article
- Article
- Structural insights into the gating mechanism of the fission yeast phosphate exporter SpXpr1.Cell discovery · 2026Article
- TaSPX3 Enhances Wheat Resistance to Leaf Rust by Antagonising TaDi19-Mediated Repression of Pathogenesis-Related Genes.Plant biotechnology journal · 2026Article
- Neuronal alkaline phosphatase promotes the spread of Tau-induced pathology, and its blockade prevents neurodegeneration and memory loss.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2026Article
- Molecular mechanism of phosphate import by the bacterial PstSCAB transporter.Nature communications · 2026Article
- XPR1 regulates fetal liver macrophage development, identity, and pyrenocyte clearance.The Journal of experimental medicine · 2026Article
- Experimental Primary Brain Calcification Model and Its Application to Pathogenesis Mechanism Analysis and Therapeutic Research.Neurology international · 2025Review
- RRP12 Variants Are Associated With Autosomal Recessive Brain Calcifications.Movement disorders : official journal of the Movement Disorder Society · 2025Article
- Review
- Multiple clades of regulators contribute to bacterial phosphate homeostasis and pathogenesis.bioRxiv : the preprint server for biology · 2025Article
- KIDINS220 and InsP8 safeguard the stepwise regulation of phosphate exporter XPR1.Molecular cell · 2025Article
- Understanding brain calcification via N-terminal acetylation at the Golgi apparatus.Brain : a journal of neurology · 2025Review
- Generation of a new Slc20a2 knockout mouse line as in vivo model for primary brain calcification.Molecular brain · 2025Article
- A Fragile Phosphate/Pyrophosphate Balance: From Essential Mineralization to Rare Calcifying Diseases.Current osteoporosis reports · 2025Review
111 more citing papers are in PubMed but not listed here.
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Authors and funding
41 authors at 18 institutions in 11 countries.
Andrea LegatiDepartment of Psychiatry, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, California, USA.
Donatella Giovannini1] Institut de Génétique Moléculaire de Montpellier, CNRS UMR 5535, Montpellier, France. [2] Université de Montpellier, Montpellier, France. [3] Laboratory of Excellence GR-Ex, Paris, France. [4] Laboratory of Excellence EpiGenMed, Montpellier, France.
Gaël Nicolas1] INSERM U1079, Institute for Research and Innovation in Biomedicine (IRIB), University of Rouen, Rouen, France. [2] Centre National de Référence pour les Malades Alzheimer Jeunes (CNR-MAJ), Rouen University Hospital, Rouen, France. [3] Department of Genetics, Rouen University Hospital, Rouen, France.
Uriel López-Sánchez1] Institut de Génétique Moléculaire de Montpellier, CNRS UMR 5535, Montpellier, France. [2] Université de Montpellier, Montpellier, France. [3] Laboratory of Excellence GR-Ex, Paris, France. [4] Laboratory of Excellence EpiGenMed, Montpellier, France.
Beatriz Quintáns1] Fundación Pública Galega de Medicina Xenómica, Servizo Galego de Saúde (SERGAS), Instituto de Investigación Sanitaria (IDIS, Hospital Clínico Universitario), Santiago de Compostela, Spain. [2] Grupo de Medicina Xenómica, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER, Universidad de Santiago de Compostela), Santiago de Compostela, Spain.
João R M OliveiraKeizo Asami Laboratory, Federal University of Pernambuco, Recife, Brazil.
Renee L SearsDepartment of Psychiatry, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, California, USA.
Eliana Marisa RamosDepartment of Psychiatry, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, California, USA.
Elizabeth SpiteriDepartment of Neurology, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, California, USA.
María-Jesús Sobrido1] Fundación Pública Galega de Medicina Xenómica, Servizo Galego de Saúde (SERGAS), Instituto de Investigación Sanitaria (IDIS, Hospital Clínico Universitario), Santiago de Compostela, Spain. [2] Grupo de Medicina Xenómica, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER, Universidad de Santiago de Compostela), Santiago de Compostela, Spain.
Ángel Carracedo1] Fundación Pública Galega de Medicina Xenómica, Servizo Galego de Saúde (SERGAS), Instituto de Investigación Sanitaria (IDIS, Hospital Clínico Universitario), Santiago de Compostela, Spain. [2] Grupo de Medicina Xenómica, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER, Universidad de Santiago de Compostela), Santiago de Compostela, Spain.
Cristina Castro-Fernández1] Fundación Pública Galega de Medicina Xenómica, Servizo Galego de Saúde (SERGAS), Instituto de Investigación Sanitaria (IDIS, Hospital Clínico Universitario), Santiago de Compostela, Spain. [2] Grupo de Medicina Xenómica, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER, Universidad de Santiago de Compostela), Santiago de Compostela, Spain.
Stéphanie CubizolleNeurology and Institute for Neurodegenerative Diseases, Bordeaux University Hospital and Bordeaux University, Bordeaux, France.
Brent L FogelDepartment of Neurology, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, California, USA.
Cyril GoizetService de Génétique Médicale, Bordeaux Hospital University Center, Bordeaux, France.
Joanna C JenDepartment of Neurology, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, California, USA.
Suppachok KirdlarpDivision of Medicine, Buriram Hospital, Buriram, Thailand.
Anthony E Lang1] Morton and Gloria Movement Disorders Clinic, Toronto Western Hospital, Toronto, Ontario, Canada. [2] Edmond J. Safra Program in Parkinson's Disease, Toronto Western Hospital, Toronto, Ontario, Canada.
Zosia MiedzybrodzkaMedical Genetics Group, School of Medicine and Dentistry, University of Aberdeen, Aberdeen, UK.
Witoon MitarnunDivision of Medicine, Buriram Hospital, Buriram, Thailand.
Martin Paucar1] Translational Neuropharmacology, Clinical Neuroscience, Center for Molecular Medicine, Karolinska Institute, Stockholm, Sweden. [2] Department of Neurology, Karolinska University Hospital Huddinge, Stockholm, Sweden.
Henry PaulsonDepartment of Neurology, University of Michigan, Ann Arbor, Michigan, USA.
Jérémie Pariente1] INSERM, Imagerie Cérébrale et Handicaps Neurologiques, UMR 825, Pole Neurosciences, Centre Hospitalier Universitaire (CHU) Purpan, Toulouse, France. [2] CHU de Toulouse, Université de Toulouse, Toulouse, France.
Anne-Claire Richard1] INSERM U1079, Institute for Research and Innovation in Biomedicine (IRIB), University of Rouen, Rouen, France. [2] Centre National de Référence pour les Malades Alzheimer Jeunes (CNR-MAJ), Rouen University Hospital, Rouen, France.
Naomi S SalinsBarrow Neurological Institute, Phoenix, Arizona, USA.
Sheila A SimpsonMedical Genetics Group, School of Medicine and Dentistry, University of Aberdeen, Aberdeen, UK.
Pasquale StrianoPediatric Neurology and Muscular Diseases Unit, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, and Maternal and Child Health, University of Genoa 'G. Gaslini' Institute, Genoa, Italy.
Per Svenningsson1] Translational Neuropharmacology, Clinical Neuroscience, Center for Molecular Medicine, Karolinska Institute, Stockholm, Sweden. [2] Department of Neurology, Karolinska University Hospital Huddinge, Stockholm, Sweden.
François TisonNeurology and Institute for Neurodegenerative Diseases, Bordeaux University Hospital and Bordeaux University, Bordeaux, France.
Vivek K UnniDepartment of Neurology, Oregon Health and Science University, Portland, Oregon, USA.
Olivier VanakkerCenter for Medical Genetics, Ghent University Hospital, Ghent, Belgium.
Marja W WesselsDepartment of Clinical Genetics, Erasmus Medical Center, Rotterdam, the Netherlands.
Suppachok WetchaphanphesatDivision of Medicine, Buriram Hospital, Buriram, Thailand.
Michele YangDepartment of Pediatrics, Children's Hospital Colorado and University of Colorado Denver, Aurora, Colorado, USA.
Francois BollerDepartment of Neurology, George Washington University Medical School, Washington, DC, USA.
Dominique Campion1] INSERM U1079, Institute for Research and Innovation in Biomedicine (IRIB), University of Rouen, Rouen, France. [2] Centre National de Référence pour les Malades Alzheimer Jeunes (CNR-MAJ), Rouen University Hospital, Rouen, France. [3] Department of Research, Rouvray Psychiatric Hospital, Sotteville-lès-Rouen, France.
Didier Hannequin1] INSERM U1079, Institute for Research and Innovation in Biomedicine (IRIB), University of Rouen, Rouen, France. [2] Centre National de Référence pour les Malades Alzheimer Jeunes (CNR-MAJ), Rouen University Hospital, Rouen, France. [3] Department of Genetics, Rouen University Hospital, Rouen, France. [4] Department of Neurology, Rouen University Hospital, Rouen, France.
Marc Sitbon1] Institut de Génétique Moléculaire de Montpellier, CNRS UMR 5535, Montpellier, France. [2] Université de Montpellier, Montpellier, France. [3] Laboratory of Excellence GR-Ex, Paris, France. [4] Laboratory of Excellence EpiGenMed, Montpellier, France.ORCID 0000000336162338
Daniel H Geschwind1] Department of Psychiatry, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, California, USA. [2] Department of Neurology, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, California, USA.
Jean-Luc Battini1] Institut de Génétique Moléculaire de Montpellier, CNRS UMR 5535, Montpellier, France. [2] Université de Montpellier, Montpellier, France. [3] Laboratory of Excellence GR-Ex, Paris, France. [4] Laboratory of Excellence EpiGenMed, Montpellier, France.
Giovanni Coppola1] Department of Psychiatry, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, California, USA. [2] Department of Neurology, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, California, USA.ORCID 0000000321051061
University of California, Los Angeles · USInserm · FRCentre National de la Recherche Scientifique · FRFundación Pública Galega de Medicina Xenómica · ESBuriram Rajabhat University · THInstitut des Maladies Neurodégénératives · FRKarolinska University Hospital · SEUniversity of Aberdeen · GBBarrow Neurological Institute · USChildren's Hospital Colorado · USErasmus MC · NLGeorge Washington University · USGhent University Hospital · BEOregon Health & Science University · USToronto Western Hospital · CAUniversidade Federal de Pernambuco · BRUniversity of Genoa · ITUniversity of Michigan · US
Funding
Comprehensive Sequencing and Analysis of Variation in NHLBI CohortsUC2HL102925 · NHLBI · BROAD INSTITUTE, INC. · PI ALTSHULER, DAVID, GABRIEL, STACEY · 2010 to 2010
$14.7MNorthwest Genomics CenterUC2HL102926 · NHLBI · UNIVERSITY OF WASHINGTON · PI GREEN, PHILIP P, NICKERSON, DEBORAH A · 2010 to 2010
$14.0MNorthwest Genomics CenterRC2HL102926 · NHLBI · UNIVERSITY OF WASHINGTON · PI GREEN, PHILIP P, NICKERSON, DEBORAH A · 2009 to 2009
$11.0MComprehensive Sequencing and Analysis of Variation in NHLBI CohortsRC2HL102925 · NHLBI · BROAD INSTITUTE, INC. · PI ALTSHULER, DAVID, GABRIEL, STACEY · 2009 to 2009
$10.2MIntegrative Center for Neurogenetics and Neurogenomics - OverallP30NS062691 · NINDS · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI COPPOLA, GIOVANNI · 2009 to 2018
$7.4MARRA - NHLBI Lung Cohorts Sequencing ProjectRC2HL102923 · NHLBI · UNIVERSITY OF WASHINGTON · PI BAMSHAD, MICHAEL JOSEPH, BARNES, KATHLEEN C · 2009 to 2009
$2.6MARRA - NHLBI Lung Cohorts Sequencing ProjectUC2HL102923 · NHLBI · UNIVERSITY OF WASHINGTON · PI BAMSHAD, MICHAEL JOSEPH, BARNES, KATHLEEN C · 2010 to 2010
$2.6MWHI Sequencing Project (WHISP)UC2HL102924 · NHLBI · OHIO STATE UNIVERSITY · PI CARLSON, CHRISTOPHER S, JACKSON, REBECCA D · 2010 to 2010
$2.4MWHI Sequencing Project (WHISP)RC2HL102924 · NHLBI · OHIO STATE UNIVERSITY · PI CARLSON, CHRISTOPHER S, JACKSON, REBECCA D · 2009 to 2009
$2.1MRare and Novel Genetic Variation in the Pathogenesis of Cerebellar AtaxiaR01NS082094 · NINDS · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI FOGEL, BRENT LINDEN · 2013 to 2017
$1.7MHuman Exome Sequencing in Six Well-Phenotyped NHLBI CohortsUC2HL103010 · NHLBI · UNIVERSITY OF VIRGINIA · PI RICH, STEPHEN S. · 2010 to 2010
$1.5MTHE GENETICS OF IDIOPATHIC BASAL GANGLIA CALCIFICATIONR01NS040752 · NINDS · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI GESCHWIND, DANIEL H · 2001 to 2004
$1.3MNHLBI NIH HHS HL-102923NHLBI NIH HHS HL-102924NHLBI NIH HHS HL-102925NHLBI NIH HHS HL-102926NHLBI NIH HHS HL-103010NHLBI NIH HHS RC2 HL102923NHLBI NIH HHS RC2 HL102924NHLBI NIH HHS RC2 HL102925NHLBI NIH HHS RC2 HL102926NHLBI NIH HHS RC2 HL103010NHLBI NIH HHS UC2 HL102923NHLBI NIH HHS UC2 HL102924NHLBI NIH HHS UC2 HL102925NHLBI NIH HHS UC2 HL102926NHLBI NIH HHS UC2 HL103010NIMH NIH HHS K08 MH086297NIMH NIH HHS K08MH086297NINDS NIH HHS P30 NS062691NINDS NIH HHS R01 NS040752NINDS NIH HHS R01NS040752NINDS NIH HHS R01 NS082094NINDS NIH HHS R01NS082094PHS HHS PSNS062691
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.
Indexed as
Brain Diseases, Metabolic, InbornCalcinosisDNA Mutational AnalysisFemaleGenetic Association StudiesGenetic Predisposition to DiseaseHEK293 CellsHumansLod ScoreMaleMiddle AgedMutation, MissenseNeurodegenerative DiseasesPedigreeReceptors, G-Protein-CoupledReceptors, VirusReceptors, G-Protein-CoupledReceptors, VirusXenotropic and Polytropic Retrovirus ReceptorXPR1 protein, human
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