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

dc.contributor.authorLegati, A.
dc.contributor.authorGiovannini, D.
dc.contributor.authorNicolas, G.
dc.contributor.authorLópez-Sánchez, U.
dc.contributor.authorQuintans Castro, Beatriz 
dc.contributor.authorOliveira, J. R. M.
dc.contributor.authorSears, R. L.
dc.contributor.authorRamos, E. M.
dc.contributor.authorSpiteri, E.
dc.contributor.authorSobrido Gómez, María Jesús 
dc.contributor.authorCarracedo Álvarez, Ángel
dc.contributor.authorCastro Fernández, Cristina
dc.contributor.authorCubizolle, S.
dc.contributor.authorFogel, B. L.
dc.contributor.authorGoizet, C.
dc.contributor.authorJen, J. C.
dc.contributor.authorKirdlarp, S.
dc.contributor.authorLang, A. E.
dc.contributor.authorMiedzybrodzka, Z.
dc.contributor.authorMitarnun, W.
dc.contributor.authorPaucar, M.
dc.contributor.authorPaulson, H.
dc.contributor.authorPariente, J.
dc.contributor.authorRichard, A. C.
dc.contributor.authorSalins, N. S.
dc.contributor.authorSimpson, S. A.
dc.contributor.authorStriano, P.
dc.contributor.authorSvenningsson, P.
dc.contributor.authorTison, F.
dc.contributor.authorUnni, V. K.
dc.contributor.authorVanakker, O.
dc.contributor.authorWessels, M. W.
dc.contributor.authorWetchaphanphesat, S.
dc.contributor.authorYang, M.
dc.contributor.authorBoller, F.
dc.contributor.authorCampion, D.
dc.contributor.authorHannequin, D.
dc.contributor.authorSitbon, M.
dc.contributor.authorGeschwind, D. H.
dc.contributor.authorBattini, J. L.
dc.contributor.authorCoppola, G.
dc.date.accessioned2017-06-07T07:35:15Z
dc.date.available2017-06-07T07:35:15Z
dc.date.issued2015
dc.identifier.issn1061-4036
dc.identifier.urihttp://hdl.handle.net/20.500.11940/8250
dc.description.abstractPrimary 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.
dc.description.sponsorshipLung GO Sequencing Project
dc.description.sponsorshipLung GO Sequencing Project
dc.description.sponsorshipWomen's Health Initiative (WHI) Sequencing Project
dc.description.sponsorshipBroad GO Sequencing Project
dc.description.sponsorshipSeattle GO Sequencing Project
dc.description.sponsorshipHeart GO Sequencing Project
dc.description.sponsorshipUnited States Department of Health & Human Services
dc.description.sponsorshipNational Institutes of Health (NIH) - USA
dc.description.sponsorshipNIH National Institute of Neurological Disorders & Stroke (NINDS)
dc.description.sponsorshipAssociation Francaise contre les Myopathies
dc.description.sponsorshipLigue Nationale contre le Cancer (Comite de l'Herault)
dc.description.sponsorshipFondation pour la Recherche Medicale
dc.description.sponsorshipFEDER European Union Languedoc-Roussillon grant
dc.description.sponsorshipNational Institute of Neurological Disorders and Stroke
dc.description.sponsorshipInformatics Center for Neurogenetics and Neurogenomics
dc.description.sponsorshipFondation pour la Recherche Medicale
dc.description.sponsorshipInstitut National du Cancer (INCA) France
dc.description.sponsorshipLabex GR-Ex
dc.description.sponsorshipLabex EpiGenMed
dc.description.sponsorshipFrench National Research Agency (ANR)
dc.description.sponsorshipInstitut National de la Sante et de la Recherche Medicale (Inserm)
dc.description.sponsorshipEuropean Commission
dc.description.sponsorshipInstituto de Salud Carlos III (ISCIII)
dc.description.sponsorshipINNOPHARMA project MINECO-USC
dc.description.sponsorshipServizo Galego de Saúde (SERGAS)
dc.description.sponsorshipNational Council for Scientific and Technological Development (CNPq)
dc.description.sponsorshipUnited States Department of Health & Human Services
dc.description.sponsorshipNational Institutes of Health (NIH) - USA
dc.description.sponsorshipNIH National Institute of Mental Health (NIMH)
dc.description.sponsorshipUnited States Department of Health & Human Services
dc.description.sponsorshipNational Institutes of Health (NIH) - USA
dc.description.sponsorshipNIH National Institute of Neurological Disorders & Stroke (NINDS)
dc.description.sponsorshipUniversity Hospital of Rouen
dc.description.sponsorshipFrench CNR-MAJ
dc.description.sponsorshipUnited States Department of Health & Human Services
dc.description.sponsorshipNational Institutes of Health (NIH) - USA
dc.description.sponsorshipNIH National Heart Lung & Blood Institute (NHLBI)
dc.description.sponsorshipUnited States Department of Health & Human Services
dc.description.sponsorshipNational Institutes of Health (NIH) - USA
dc.description.sponsorshipNIH National Institute of Mental Health (NIMH)
dc.description.sponsorshipUnited States Department of Health & Human Services
dc.description.sponsorshipNational Institutes of Health (NIH) - USA
dc.description.sponsorshipNIH National Institute of Neurological Disorders & Stroke (NINDS)
dc.language.isoeng
dc.subject.meshBrain Diseases, Metabolic, Inborn
dc.subject.meshCalcinosis
dc.subject.meshDNA Mutational Analysis
dc.subject.meshFemale
dc.subject.meshGenetic Association Studies
dc.subject.meshGenetic Predisposition to Disease
dc.subject.meshHEK293 Cells
dc.subject.meshHumans
dc.subject.meshLod Score
dc.subject.meshMale
dc.subject.meshMiddle Aged
dc.subject.meshMutation, Missense
dc.subject.meshNeurodegenerative Diseases
dc.subject.meshPedigree
dc.subject.meshReceptors, G-Protein-Coupled
dc.subject.meshReceptors, Virus
dc.titleMutations in XPR1 cause primary familial brain calcification associated with altered phosphate export
dc.typeArtigoes
dc.authorsophosLegati, A.
dc.authorsophosGiovannini, D.
dc.authorsophosNicolas, G.
dc.authorsophosLópez-Sánchez, U.
dc.authorsophosQuintáns, B.
dc.authorsophosOliveira, J. R. M.
dc.authorsophosSears, R. L.
dc.authorsophosRamos, E. M.
dc.authorsophosSpiteri, E.
dc.authorsophosSobrido, M. J.
dc.authorsophosCarracedo, Á
dc.authorsophosCastro-Fernández, C.
dc.authorsophosCubizolle, S.
dc.authorsophosFogel, B. L.
dc.authorsophosGoizet, C.
dc.authorsophosJen, J. C.
dc.authorsophosKirdlarp, S.
dc.authorsophosLang, A. E.
dc.authorsophosMiedzybrodzka, Z.
dc.authorsophosMitarnun, W.
dc.authorsophosPaucar, M.
dc.authorsophosPaulson, H.
dc.authorsophosPariente, J.
dc.authorsophosRichard, A. C.
dc.authorsophosSalins, N. S.
dc.authorsophosSimpson, S. A.
dc.authorsophosStriano, P.
dc.authorsophosSvenningsson, P.
dc.authorsophosTison, F.
dc.authorsophosUnni, V. K.
dc.authorsophosVanakker, O.
dc.authorsophosWessels, M. W.
dc.authorsophosWetchaphanphesat, S.
dc.authorsophosYang, M.
dc.authorsophosBoller, F.
dc.authorsophosCampion, D.
dc.authorsophosHannequin, D.
dc.authorsophosSitbon, M.
dc.authorsophosGeschwind, D. H.
dc.authorsophosBattini, J. L.
dc.authorsophosCoppola, G.
dc.identifier.doi10.1038/ng.3289
dc.identifier.isi355386500007
dc.identifier.pmid25938945
dc.identifier.sophos19594
dc.issue.number6
dc.journal.titleNATURE GENETICS
dc.organizationServizo Galego de Saúde::Estrutura de Xestión Integrada (EOXI)::EOXI de Santiago::IDIS.- Instituto de investigaciones sanitarias de Santiago
dc.organizationConsellería de Sanidade::Fundación pública Galega de Medicina Xenómica
dc.page.initial579
dc.page.final581
dc.relation.projectIDLung GO Sequencing Project/HL-102923
dc.relation.projectIDWomen's Health Initiative (WHI) Sequencing Project /HL-102924
dc.relation.projectIDBroad GO Sequencing Project /HL-102925
dc.relation.projectIDSeattle GO Sequencing Project /HL-102926
dc.relation.projectIDHeart GO Sequencing Project /HL-103010
dc.relation.projectIDUnited States Department of Health & Human Services/ National Institutes of Health (NIH) - USA/NIH National Institute of Neurological Disorders & Stroke (NINDS)/R01NS040752
dc.relation.projectIDInformatics Center for Neurogenetics and Neurogenomics /PSNS062691
dc.relation.projectIDLabex GR-Ex /ANR-11-LABX-0051
dc.relation.projectIDLabex EpiGenMed /ANR-10-LABX-12-01
dc.relation.projectIDInstituto de Salud Carlos III/PI12/00742
dc.relation.projectIDFACEPE /APQ 1831-4.01/12
dc.relation.projectIDNational Council for Scientific and Technological Development (CNPq)/457556/2013-7
dc.relation.projectIDNational Council for Scientific and Technological Development (CNPq)/480255/2013-0
dc.relation.projectIDNational Council for Scientific and Technological Development (CNPq)/307909/2012-3
dc.relation.projectIDUnited States Department of Health & Human Services/ National Institutes of Health (NIH) - USA/ NIH National Institute of Mental Health (NIMH)/K08MH086297
dc.relation.projectIDUnited States Department of Health & Human Services/National Institutes of Health (NIH) - USA/NIH National Institute of Neurological Disorders & Stroke (NINDS)/R01NS082094
dc.relation.projectIDUnited States Department of Health & Human Services/National Institutes of Health (NIH) - USA/NIH National Heart Lung & Blood Institute (NHLBI)/RC2HL103010
dc.relation.projectIDUnited States Department of Health & Human Services/National Institutes of Health (NIH) - USA/NIH National Heart Lung & Blood Institute (NHLBI)/RC2HL102926
dc.relation.projectIDUnited States Department of Health & Human Services/National Institutes of Health (NIH) - USA/NIH National Heart Lung & Blood Institute (NHLBI)/UC2HL102924
dc.relation.projectIDUnited States Department of Health & Human Services/National Institutes of Health (NIH) - USA/NIH National Heart Lung & Blood Institute (NHLBI)/UC2HL102923
dc.relation.projectIDUnited States Department of Health & Human Services/National Institutes of Health (NIH) - USA/NIH National Heart Lung & Blood Institute (NHLBI)/RC2HL102924
dc.relation.projectIDUnited States Department of Health & Human Services/National Institutes of Health (NIH) - USA/NIH National Heart Lung & Blood Institute (NHLBI)/UC2HL102925
dc.relation.projectIDUnited States Department of Health & Human Services/National Institutes of Health (NIH) - USA/NIH National Institute of Mental Health (NIMH)/K08MH086297
dc.relation.projectIDUnited States Department of Health & Human Services/National Institutes of Health (NIH) - USA/NIH National Institute of Neurological Disorders & Stroke (NINDS)/P30NS062691
dc.relation.projectIDUnited States Department of Health & Human Services/National Institutes of Health (NIH) - USA/NIH National Institute of Neurological Disorders & Stroke (NINDS)/R01NS040752
dc.relation.projectIDUnited States Department of Health & Human Services/National Institutes of Health (NIH) - USA/NIH National Institute of Neurological Disorders & Stroke (NINDS)/R01NS082094
dc.rights.accessRightsopenAccess
dc.typesophosArtículo Original
dc.volume.number47


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