{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,6]],"date-time":"2026-09-06T02:41:46Z","timestamp":1788662506294,"version":"build-2803163510"},"reference-count":167,"publisher":"Springer Science and Business Media LLC","issue":"4","license":[{"start":{"date-parts":[[2022,12,5]],"date-time":"2022-12-05T00:00:00Z","timestamp":1670198400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2022,12,5]],"date-time":"2022-12-05T00:00:00Z","timestamp":1670198400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Neurosci. Bull."],"published-print":{"date-parts":[[2023,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Primary familial brain calcification (PFBC) is an inherited neurodegenerative disorder mainly characterized by progressive calcium deposition bilaterally in the brain, accompanied by various symptoms, such as dystonia, ataxia, parkinsonism, dementia, depression, headaches, and epilepsy. Currently, the etiology of PFBC is largely unknown, and no specific prevention or treatment is available. During the past 10 years, six causative genes (<jats:italic>SLC20A2<\/jats:italic>,<jats:italic>PDGFRB<\/jats:italic>,<jats:italic>PDGFB<\/jats:italic>,<jats:italic>XPR1<\/jats:italic>,<jats:italic>MYORG<\/jats:italic>, and<jats:italic>JAM2<\/jats:italic>) have been identified in PFBC. In this review, considering mechanistic studies of these genes at the cellular level and in animals, we summarize the pathogenesis and potential preventive and therapeutic strategies for PFBC patients. Our systematic analysis suggests a classification for PFBC genetic etiology based on several characteristics, provides a summary of the known composition of brain calcification, and identifies some potential therapeutic targets for PFBC.<\/jats:p>","DOI":"10.1007\/s12264-022-00980-0","type":"journal-article","created":{"date-parts":[[2022,12,5]],"date-time":"2022-12-05T06:02:57Z","timestamp":1670220177000},"page":"659-674","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":30,"title":["The Pathology of Primary Familial Brain Calcification: Implications for Treatment"],"prefix":"10.1007","volume":"39","author":[{"given":"Xuan","family":"Xu","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hao","family":"Sun","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Junyu","family":"Luo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xuewen","family":"Cheng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wenqi","family":"Lv","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wei","family":"Luo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wan-Jin","family":"Chen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhi-Qi","family":"Xiong","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7060-6946","authenticated-orcid":false,"given":"Jing-Yu","family":"Liu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2022,12,5]]},"reference":[{"key":"980_CR1","doi-asserted-by":"publisher","first-page":"36","DOI":"10.1007\/BF00839209","volume":"239","author":"H F\u00f6rstl","year":"1992","unstructured":"F\u00f6rstl H, Krumm B, Eden S, Kohlmeyer K. Neurological disorders in 166 patients with basal ganglia calcification: A statistical evaluation. J Neurol 1992, 239: 36\u201338.","journal-title":"J Neurol"},{"key":"980_CR2","doi-asserted-by":"publisher","first-page":"260","DOI":"10.1111\/j.1600-0404.2008.01010.x","volume":"118","author":"M Simoni","year":"2008","unstructured":"Simoni M, Pantoni L, Pracucci G, Palmertz B, Guo X, Gustafson D. Prevalence of CT-detected cerebral abnormalities in an elderly Swedish population sample. Acta Neurol Scand 2008, 118: 260\u2013267.","journal-title":"Acta Neurol Scand"},{"key":"980_CR3","doi-asserted-by":"publisher","first-page":"3395","DOI":"10.1093\/brain\/awt255","volume":"136","author":"G Nicolas","year":"2013","unstructured":"Nicolas G, Pottier C, Charbonnier C, Guyant-Mar\u00e9chal L, Le Ber I, Pariente J, et al. Phenotypic spectrum of probable and genetically-confirmed idiopathic basal ganglia calcification. Brain 2013, 136: 3395\u20133407.","journal-title":"Brain"},{"key":"980_CR4","doi-asserted-by":"publisher","first-page":"706","DOI":"10.1111\/ggi.12004","volume":"13","author":"M Yamada","year":"2013","unstructured":"Yamada M, Asano T, Okamoto K, Hayashi Y, Kanematsu M, Hoshi H, et al. High frequency of calcification in basal ganglia on brain computed tomography images in Japanese older adults. Geriatr Gerontol Int 2013, 13: 706\u2013710.","journal-title":"Geriatr Gerontol Int"},{"key":"980_CR5","doi-asserted-by":"publisher","first-page":"641","DOI":"10.4065\/80.5.641","volume":"80","author":"Y Baba","year":"2005","unstructured":"Baba Y, Broderick DF, Uitti RJ, Hutton ML, Wszolek ZK. Heredofamilial brain calcinosis syndrome. Mayo Clin Proc 2005, 80: 641\u2013651.","journal-title":"Mayo Clin Proc"},{"key":"980_CR6","doi-asserted-by":"crossref","first-page":"1","DOI":"10.3941\/jrcr.v13i8.3633","volume":"13","author":"C Saade","year":"2019","unstructured":"Saade C, Najem E, Asmar K, Salman R, El Achkar B, Naffaa L. Intracranial calcifications on CT: An updated review. J Radiol Case Rep 2019, 13: 1\u201318.","journal-title":"J Radiol Case Rep"},{"key":"980_CR7","doi-asserted-by":"publisher","first-page":"489","DOI":"10.1002\/humu.22778","volume":"36","author":"RR Lemos","year":"2015","unstructured":"Lemos RR, Ramos EM, Legati A, Nicolas G, Jenkinson EM, Livingston JH, et al. Update and mutational analysis ofSLC20A2: A major cause of primary familial brain calcification. Hum Mutat 2015, 36: 489\u2013495.","journal-title":"Hum Mutat"},{"key":"980_CR8","doi-asserted-by":"publisher","first-page":"460","DOI":"10.1001\/jamaneurol.2014.3889","volume":"72","author":"V Tadic","year":"2015","unstructured":"Tadic V, Westenberger A, Domingo A, Alvarez-Fischer D, Klein C, Kasten M. Primary familial brain calcification with known gene mutations: A systematic review and challenges of phenotypic characterization. JAMA Neurol 2015, 72: 460\u2013467.","journal-title":"JAMA Neurol"},{"key":"980_CR9","doi-asserted-by":"publisher","first-page":"2468","DOI":"10.1002\/mds.28753","volume":"36","author":"A Balck","year":"2021","unstructured":"Balck A, Schaake S, Kuhnke NS, Domingo A, Madoev H, Margolesky J, et al. Genotype-phenotype relations in primary familial brain calcification: Systematic MDSGene review. Mov Disord 2021, 36: 2468\u20132480.","journal-title":"Mov Disord"},{"key":"980_CR10","doi-asserted-by":"publisher","first-page":"73","DOI":"10.1016\/j.parkreldis.2004.12.001","volume":"11","author":"BV Manyam","year":"2005","unstructured":"Manyam BV. What is and what is not \u2018Fahr\u2019s disease.\u2019 Park Relat Disord 2005, 11: 73\u201380.","journal-title":"Park Relat Disord"},{"key":"980_CR11","doi-asserted-by":"publisher","first-page":"254","DOI":"10.1038\/ng.1077","volume":"44","author":"C Wang","year":"2012","unstructured":"Wang C, Li YL, Shi L, Ren J, Patti M, Wang T, et al. Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis. Nat Genet 2012, 44: 254\u2013256.","journal-title":"Nat Genet"},{"key":"980_CR12","doi-asserted-by":"publisher","first-page":"68","DOI":"10.1002\/ajmg.b.32605","volume":"177","author":"G Nicolas","year":"2018","unstructured":"Nicolas G, Charbonnier C, Campion D, Veltman JA. Estimation of minimal disease prevalence from population genomic data: Application to primary familial brain calcification. Am J Med Genet B Neuropsychiatr Genet 2018, 177: 68\u201374.","journal-title":"Am J Med Genet B Neuropsychiatr Genet"},{"key":"980_CR13","doi-asserted-by":"publisher","first-page":"211","DOI":"10.1016\/j.parkreldis.2019.04.009","volume":"64","author":"S Chen","year":"2019","unstructured":"Chen S, Cen Z, Fu F, Chen Y, Chen X, Yang D, et al. Underestimated disease prevalence and severe phenotypes in patients with biallelic variants: A cohort study of primary familial brain calcification from China. Park Relat Disord 2019, 64: 211\u2013219.","journal-title":"Park Relat Disord"},{"key":"980_CR14","first-page":"458","volume":"2","author":"A Delacour","year":"1850","unstructured":"Delacour A. Ossification des capillaires du cerveau. Ann MedPsychol 1850, 2: 458\u2013461.","journal-title":"Ann MedPsychol"},{"key":"980_CR15","doi-asserted-by":"publisher","first-page":"145","DOI":"10.1016\/0022-510X(75)90136-7","volume":"25","author":"Y Michotte","year":"1975","unstructured":"Michotte Y, Smeyers-Verbeke J, Ebinger G, Maurus R, Pelsmaekers J, Lowenthal A, et al. Brain calcification in a case of acute lymphoblastic leukaemia. J Neurol Sci 1975, 25: 145\u2013152.","journal-title":"J Neurol Sci"},{"key":"980_CR16","doi-asserted-by":"publisher","first-page":"48","DOI":"10.1212\/WNL.25.1.48","volume":"25","author":"J Smeyers-Verbeke","year":"1975","unstructured":"Smeyers-Verbeke J, Michotte Y, Pelsmaeckers J, Lowenthal A, Massart DL, Dekegel D, et al. The chemical composition of idiopathic nonarteriosclerotic cerebral calcifications. Neurology 1975, 25: 48\u201357.","journal-title":"Neurology"},{"key":"980_CR17","doi-asserted-by":"publisher","first-page":"62","DOI":"10.1007\/BF00695503","volume":"73","author":"S Kobayashi","year":"1987","unstructured":"Kobayashi S, Yamadori I, Miki H, Ohmori M. Idiopathic nonarteriosclerotic cerebral calcification (Fahr\u2019s disease): An electron microscopic study. Acta Neuropathol 1987, 73: 62\u201366.","journal-title":"Acta Neuropathol"},{"key":"980_CR18","doi-asserted-by":"publisher","first-page":"643","DOI":"10.1007\/s00401-005-1007-7","volume":"109","author":"J Miklossy","year":"2005","unstructured":"Miklossy J, MacKenzie IR, Dorovini-Zis K, Calne DB, Wszolek ZK, Klegeris A, et al. Severe vascular disturbance in a case of familial brain calcinosis. Acta Neuropathol 2005, 109: 643\u2013653.","journal-title":"Acta Neuropathol"},{"key":"980_CR19","doi-asserted-by":"publisher","first-page":"839","DOI":"10.1007\/s00415-009-5025-6","volume":"256","author":"C Wider","year":"2009","unstructured":"Wider C, Dickson DW, Schweitzer KJ, Broderick DF, Wszolek ZK. Familial idiopathic basal ganglia calcification: A challenging clinical-pathological correlation. J Neurol 2009, 256: 839\u2013842.","journal-title":"J Neurol"},{"key":"980_CR20","doi-asserted-by":"publisher","first-page":"620","DOI":"10.1212\/01.wnl.0000230141.40784.09","volume":"67","author":"ZK Wszolek","year":"2006","unstructured":"Wszolek ZK, Baba Y, MacKenzie IR, Uitti RJ, Strongosky AJ, Broderick DF, et al. Autosomal dominant dystonia-plus with cerebral calcifications. Neurology 2006, 67: 620\u2013625.","journal-title":"Neurology"},{"key":"980_CR21","doi-asserted-by":"publisher","first-page":"1077","DOI":"10.1038\/ng.2723","volume":"45","author":"A Keller","year":"2013","unstructured":"Keller A, Westenberger A, Sobrido MJ, Garc\u00eda-Murias M, Domingo A, Sears RL, et al. Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice. Nat Genet 2013, 45: 1077\u20131082.","journal-title":"Nat Genet"},{"key":"980_CR22","doi-asserted-by":"publisher","first-page":"181","DOI":"10.1212\/WNL.0b013e31827ccf34","volume":"80","author":"G Nicolas","year":"2013","unstructured":"Nicolas G, Pottier C, Malt\u00eate D, Coutant S, Rovelet-Lecrux A, Legallic S, et al. Mutation of the PDGFRB gene as a cause of idiopathic basal ganglia calcification. Neurology 2013, 80: 181\u2013187.","journal-title":"Neurology"},{"key":"980_CR23","doi-asserted-by":"publisher","first-page":"579","DOI":"10.1038\/ng.3289","volume":"47","author":"A Legati","year":"2015","unstructured":"Legati A, Giovannini D, Nicolas G, L\u00f3pez-S\u00e1nchez U, Quint\u00e1ns B, Oliveira JRM, et al. Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export. Nat Genet 2015, 47: 579\u2013581.","journal-title":"Nat Genet"},{"key":"980_CR24","doi-asserted-by":"publisher","first-page":"1116","DOI":"10.1016\/j.neuron.2018.05.037","volume":"98","author":"XP Yao","year":"2018","unstructured":"Yao XP, Cheng XW, Wang C, Zhao M, Guo XX, Su HZ, et al. Biallelic mutations in MYORG cause autosomal recessive primary familial brain calcification. Neuron 2018, 98: 1116-1123.e5.","journal-title":"Neuron"},{"key":"980_CR25","doi-asserted-by":"publisher","first-page":"491","DOI":"10.1093\/brain\/awz392","volume":"143","author":"Z Cen","year":"2020","unstructured":"Cen Z, Chen Y, Chen S, Wang H, Yang D, Zhang H, et al. Biallelic loss-of-function mutations in JAM2 cause primary familial brain calcification. Brain 2020, 143: 491\u2013502.","journal-title":"Brain"},{"key":"980_CR26","volume":"12","author":"A Uno","year":"2020","unstructured":"Uno A, Tamune H, Kurita H, Hozumi I, Yamamoto N. SLC20A2-associated idiopathic basal ganglia calcification-related recurrent psychosis response to low-dose antipsychotics: A case report and literature review. Cureus 2020, 12: e12407.","journal-title":"Cureus"},{"key":"980_CR27","doi-asserted-by":"publisher","first-page":"1520","DOI":"10.1038\/s41431-021-00919-5","volume":"29","author":"A Arteche-L\u00f3pez","year":"2021","unstructured":"Arteche-L\u00f3pez A, \u00c1lvarez-Mora M, S\u00e1nchez Calvin M, Lezana Rosales J, Palma Milla C, G\u00f3mez Rodr\u00edguez MJ, et al. Biallelic variants in genes previously associated with dominant inheritance: CACNA1A, RET and SLC20A2. Eur J Hum Genet 2021, 29: 1520\u20131526.","journal-title":"Eur J Hum Genet"},{"key":"980_CR28","doi-asserted-by":"publisher","first-page":"83","DOI":"10.1016\/j.parkreldis.2021.10.021","volume":"92","author":"RN Duan","year":"2021","unstructured":"Duan RN, Zhao DD, Liu YM, Yan CZ. A heterozygous deletion of PDGFB gene causes paroxysmal kinesigenic dyskinesia with primary familial brain calcification. Park Relat Disord 2021, 92: 83\u201387.","journal-title":"Park Relat Disord"},{"key":"980_CR29","doi-asserted-by":"publisher","first-page":"7169","DOI":"10.12998\/wjcc.v9.i24.7169","volume":"9","author":"BN Fei","year":"2021","unstructured":"Fei BN, Su HZ, Yao XP, Ding J, Wang X. Idiopathic basal ganglia calcification associated with new MYORG mutation site: A case report. World J Clin Cases 2021, 9: 7169\u20137174.","journal-title":"World J Clin Cases"},{"key":"980_CR30","doi-asserted-by":"crossref","unstructured":"Gao L, Chen J, Dong H, Li X. A novel mutation in MYORG leads to primary familial brain calcification and cerebral infarction. Int J Neurosci 2021: 1\u20135.","DOI":"10.1080\/00207454.2020.1869000"},{"key":"980_CR31","doi-asserted-by":"publisher","first-page":"399","DOI":"10.1093\/hmg\/ddab258","volume":"31","author":"S Lenglez","year":"2022","unstructured":"Lenglez S, Sablon A, F\u00e9nelon G, Boland A, Deleuze JF, Boutoleau-Bretonni\u00e8re C, et al. Distinct functional classes of PDGFRB pathogenic variants in primary familial brain calcification. Hum Mol Genet 2022, 31: 399\u2013409.","journal-title":"Hum Mol Genet"},{"key":"980_CR32","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2021.643452","volume":"12","author":"Y Shen","year":"2021","unstructured":"Shen Y, Shu S, Ren Y, Xia W, Chen J, Dong L, et al. Case report: Two novel frameshift mutations in SLC20A2 and one novel splice donor mutation in PDGFB associated with primary familial brain calcification. Front Genet 2021, 12: 643452.","journal-title":"Front Genet"},{"key":"980_CR33","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.1670","volume":"9","author":"H Sun","year":"2021","unstructured":"Sun H, Cao Z, Gao R, Li Y, Chen R, Du S, et al. Severe brain calcification and migraine headache caused by SLC20A2 and PDGFRB heterozygous mutations in a five-year-old Chinese girl. Mol Genet Genomic Med 2021, 9: e1670.","journal-title":"Mol Genet Genomic Med"},{"key":"980_CR34","doi-asserted-by":"publisher","first-page":"331","DOI":"10.1016\/j.braindev.2020.09.014","volume":"43","author":"LO Tang","year":"2021","unstructured":"Tang LO, Hou BH, Zhang XN, Xi ZY, Li CX, Xu L. Biallelic XPR1 mutation associated with primary familial brain calcification presenting as paroxysmal kinesigenic dyskinesia with infantile convulsions. Brain Dev 2021, 43: 331\u2013336.","journal-title":"Brain Dev"},{"key":"980_CR35","doi-asserted-by":"publisher","first-page":"789","DOI":"10.1016\/j.braindev.2021.04.002","volume":"43","author":"L Tekin Orgun","year":"2021","unstructured":"Tekin Orgun L, Besen \u015e, Sang\u00fcn \u00d6, Bisgin A, Alkan \u00d6, Erol \u0130. First pediatric case with primary familial brain calcification due to a novel variant on the MYORG gene and review of the literature. Brain Dev 2021, 43: 789\u2013797.","journal-title":"Brain Dev"},{"key":"980_CR36","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2021.732389","volume":"12","author":"YH Zeng","year":"2021","unstructured":"Zeng YH, Lin BW, Su HZ, Guo XX, Li YL, Lai LL, et al. Mutation analysis of MYORG in a Chinese cohort with primary familial brain calcification. Front Genet 2021, 12: 732389.","journal-title":"Front Genet"},{"key":"980_CR37","doi-asserted-by":"publisher","first-page":"126","DOI":"10.1111\/neup.12781","volume":"42","author":"K Sakai","year":"2022","unstructured":"Sakai K, Ishida C, Hayashi K, Tsuji N, Kannon T, Hosomichi K, et al. Familial idiopathic basal ganglia calcification with a heterozygous missense variant (c.902C>T\/p.P307L) in SLC20A2 showing widespread cerebrovascular lesions. Neuropathology 2022, 42: 126\u2013133.","journal-title":"Neuropathology"},{"key":"980_CR38","doi-asserted-by":"publisher","first-page":"329","DOI":"10.1186\/s12883-020-01910-1","volume":"20","author":"SY Chen","year":"2020","unstructured":"Chen SY, Lin WC, Chang YY, Lin TK, Lan MY. Brain hypoperfusion and nigrostriatal dopaminergic dysfunction in primary familial brain calcification caused by novel MYORG variants: Case report. BMC Neurol 2020, 20: 329.","journal-title":"BMC Neurol"},{"key":"980_CR39","doi-asserted-by":"publisher","first-page":"2561","DOI":"10.1007\/s10072-020-04976-4","volume":"42","author":"KA Woo","year":"2021","unstructured":"Woo KA, Yoo D, Lee JY, Kim MJ, Seong MW, Park SS, et al. SLC20A2 mutation manifesting as very late-onset orofacial dyskinesia. Neurol Sci 2021, 42: 2561\u20132564.","journal-title":"Neurol Sci"},{"key":"980_CR40","doi-asserted-by":"publisher","first-page":"150","DOI":"10.1016\/j.jns.2018.03.014","volume":"388","author":"I Hozumi","year":"2018","unstructured":"Hozumi I, Kurita H, Ozawa K, Furuta N, Inden M, Sekine SI, et al. Inorganic phosphorus (Pi) in CSF is a biomarker for SLC20A2-associated idiopathic basal ganglia calcification (IBGC1). J Neurol Sci 2018, 388: 150\u2013154.","journal-title":"J Neurol Sci"},{"key":"980_CR41","doi-asserted-by":"publisher","first-page":"309","DOI":"10.1159\/000478723","volume":"7","author":"AV Idland","year":"2017","unstructured":"Idland AV, Wyller TB, St\u00f8en R, Dahl GT, Frihagen F, Br\u00e6khus A, et al. Cerebrospinal fluid phosphate in delirium after hip fracture. Dement Geriatr Cogn Dis Extra 2017, 7: 309\u2013317.","journal-title":"Dement Geriatr Cogn Dis Extra"},{"key":"980_CR42","doi-asserted-by":"publisher","first-page":"125","DOI":"10.1007\/s10048-015-0469-6","volume":"17","author":"N Jensen","year":"2016","unstructured":"Jensen N, Autzen JK, Pedersen L. Slc20a2 is critical for maintaining a physiologic inorganic phosphate level in cerebrospinal fluid. Neurogenetics 2016, 17: 125\u2013130.","journal-title":"Neurogenetics"},{"key":"980_CR43","doi-asserted-by":"publisher","first-page":"7071","DOI":"10.1073\/pnas.91.15.7071","volume":"91","author":"MP Kavanaugh","year":"1994","unstructured":"Kavanaugh MP, Miller DG, Zhang W, Law W, Kozak SL, Kabat D, et al. Cell-surface receptors for gibbon ape leukemia virus and amphotropic murine retrovirus are inducible sodium-dependent phosphate symporters. Proc Natl Acad Sci U S A 1994, 91: 7071\u20137075.","journal-title":"Proc Natl Acad Sci U S A"},{"key":"980_CR44","doi-asserted-by":"publisher","first-page":"78","DOI":"10.1073\/pnas.91.1.78","volume":"91","author":"DG Miller","year":"1994","unstructured":"Miller DG, Edwards RH, Miller AD. Cloning of the cellular receptor for amphotropic murine retroviruses reveals homology to that for gibbon ape leukemia virus. Proc Natl Acad Sci U S A 1994, 91: 78\u201382.","journal-title":"Proc Natl Acad Sci U S A"},{"key":"980_CR45","doi-asserted-by":"publisher","first-page":"C606","DOI":"10.1152\/ajpcell.00064.2007","volume":"293","author":"S Ravera","year":"2007","unstructured":"Ravera S, Virkki LV, Murer H, Forster IC. Deciphering PiT transport kinetics and substrate specificity using electrophysiology and flux measurements. Am J Physiol Cell Physiol 2007, 293: C606\u2013C620.","journal-title":"Am J Physiol Cell Physiol"},{"key":"980_CR46","doi-asserted-by":"publisher","first-page":"303","DOI":"10.1016\/j.bbrc.2019.01.096","volume":"510","author":"SI Sekine","year":"2019","unstructured":"Sekine SI, Nishii K, Masaka T, Kurita H, Inden M, Hozumi I. SLC20A2 variants cause dysfunctional phosphate transport activity in endothelial cells induced from Idiopathic Basal Ganglia Calcification patients-derived iPSCs. Biochem Biophys Res Commun 2019, 510: 303\u2013308.","journal-title":"Biochem Biophys Res Commun"},{"key":"980_CR47","doi-asserted-by":"publisher","first-page":"9366","DOI":"10.1074\/jbc.RA119.011376","volume":"295","author":"U L\u00f3pez-S\u00e1nchez","year":"2020","unstructured":"L\u00f3pez-S\u00e1nchez U, Tury S, Nicolas G, Wilson MS, Jurici S, Ayrignac X, et al. Interplay between primary familial brain calcification-associated SLC20A2 and XPR1 phosphate transporters requires inositol polyphosphates for control of cellular phosphate homeostasis. J Biol Chem 2020, 295: 9366\u20139378.","journal-title":"J Biol Chem"},{"key":"980_CR48","doi-asserted-by":"publisher","first-page":"17850","DOI":"10.1038\/s41598-017-17953-3","volume":"7","author":"XX Ma","year":"2017","unstructured":"Ma XX, Li X, Yi P, Wang C, Weng J, Zhang L, et al. PiT2 regulates neuronal outgrowth through interaction with microtubule-associated protein 1B. Sci Rep 2017, 7: 17850.","journal-title":"Sci Rep"},{"key":"980_CR49","doi-asserted-by":"publisher","first-page":"994","DOI":"10.1007\/s12031-013-0085-6","volume":"51","author":"N Jensen","year":"2013","unstructured":"Jensen N, Schr\u00f8der HD, Hejb\u00f8l EK, F\u00fcchtbauer EM, de Oliveira JRM, Pedersen L. Loss of function of Slc20a2 associated with familial idiopathic basal ganglia calcification in humans causes brain calcifications in mice. J Mol Neurosci 2013, 51: 994\u2013999.","journal-title":"J Mol Neurosci"},{"key":"980_CR50","doi-asserted-by":"publisher","first-page":"13","DOI":"10.1016\/j.repbio.2015.12.004","volume":"16","author":"MC Wallingford","year":"2016","unstructured":"Wallingford MC, Gammill HS, Giachelli CM. Slc20a2 deficiency results in fetal growth restriction and placental calcification associated with thickened basement membranes and novel CD13 and laminin\u03b11 expressing cells. Reprod Biol 2016, 16: 13\u201326.","journal-title":"Reprod Biol"},{"key":"980_CR51","doi-asserted-by":"publisher","first-page":"1101","DOI":"10.1002\/jbmr.3691","volume":"34","author":"S Beck-Cormier","year":"2019","unstructured":"Beck-Cormier S, Lelliott CJ, Logan JG, Lafont DT, Merametdjian L, Leitch VD, et al. Slc20a2, encoding the phosphate transporter PiT2, is an important genetic determinant of bone quality and strength. J Bone Miner Res 2019, 34: 1101\u20131114.","journal-title":"J Bone Miner Res"},{"key":"980_CR52","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2021.639935","volume":"12","author":"Y Ren","year":"2021","unstructured":"Ren Y, Shen Y, Si N, Fan S, Zhang Y, Xu W, et al. Slc20a2-deficient mice exhibit multisystem abnormalities and impaired spatial learning memory and sensorimotor gating but normal motor coordination abilities. Front Genet 2021, 12: 639935.","journal-title":"Front Genet"},{"key":"980_CR53","doi-asserted-by":"publisher","first-page":"64","DOI":"10.1111\/bpa.12362","volume":"27","author":"MC Wallingford","year":"2017","unstructured":"Wallingford MC, Chia JJ, Leaf EM, Borgeia S, Chavkin NW, Sawangmake C, et al. SLC20A2 deficiency in mice leads to elevated phosphate levels in cerbrospinal fluid and glymphatic pathway-associated arteriolar calcification, and recapitulates human idiopathic basal ganglia calcification. Brain Pathol 2017, 27: 64\u201376.","journal-title":"Brain Pathol"},{"key":"980_CR54","doi-asserted-by":"publisher","first-page":"147ra111","DOI":"10.1126\/scitranslmed.3003748","volume":"4","author":"JJ Iliff","year":"2012","unstructured":"Iliff JJ, Wang M, Liao Y, Plogg BA, Peng W, Gundersen GA, et al. A paravascular pathway facilitates CSF flow through the brain parenchyma and the clearance of interstitial solutes, including amyloid \u03b2. Sci Transl Med 2012, 4: 147ra111.","journal-title":"Sci Transl Med"},{"key":"980_CR55","doi-asserted-by":"publisher","first-page":"18190","DOI":"10.1523\/JNEUROSCI.1592-13.2013","volume":"33","author":"JJ Iliff","year":"2013","unstructured":"Iliff JJ, Wang M, Zeppenfeld DM, Venkataraman A, Plog BA, Liao YH, et al. Cerebral arterial pulsation drives paravascular CSF-interstitial fluid exchange in the murine brain. J Neurosci 2013, 33: 18190\u201318199.","journal-title":"J Neurosci"},{"key":"980_CR56","doi-asserted-by":"publisher","first-page":"475","DOI":"10.1038\/nature25739","volume":"554","author":"M Vanlandewijck","year":"2018","unstructured":"Vanlandewijck M, He L, M\u00e4e MA, Andrae J, Ando K, del Gaudio F, et al. A molecular atlas of cell types and zonation in the brain vasculature. Nature 2018, 554: 475\u2013480.","journal-title":"Nature"},{"key":"980_CR57","doi-asserted-by":"publisher","first-page":"716","DOI":"10.1016\/j.kint.2018.05.015","volume":"94","author":"S Yamada","year":"2018","unstructured":"Yamada S, Leaf EM, Chia JJ, Cox TC, Speer MY, Giachelli CM. PiT-2, a type III sodium-dependent phosphate transporter, protects against vascular calcification in mice with chronic kidney disease fed a high-phosphate diet. Kidney Int 2018, 94: 716\u2013727.","journal-title":"Kidney Int"},{"key":"980_CR58","doi-asserted-by":"publisher","first-page":"1147","DOI":"10.1161\/hh2401.101070","volume":"89","author":"SA Steitz","year":"2001","unstructured":"Steitz SA, Speer MY, Curinga G, Yang HY, Haynes P, Aebersold R, et al. Smooth muscle cell phenotypic transition associated with calcification: upregulation of Cbfa1 and downregulation of smooth muscle lineage markers. Circ Res 2001, 89: 1147\u20131154.","journal-title":"Circ Res"},{"key":"980_CR59","doi-asserted-by":"publisher","first-page":"1724","DOI":"10.1046\/j.1523-1755.2002.00625.x","volume":"62","author":"NX Chen","year":"2002","unstructured":"Chen NX, O\u2019Neill KD, Duan D, Moe SM. Phosphorus and uremic serum up-regulate osteopontin expression in vascular smooth muscle cells. Kidney Int 2002, 62: 1724\u20131731.","journal-title":"Kidney Int"},{"key":"980_CR60","doi-asserted-by":"publisher","first-page":"545","DOI":"10.1016\/j.neuint.2003.11.006","volume":"45","author":"NJ Abbott","year":"2004","unstructured":"Abbott NJ. Evidence for bulk flow of brain interstitial fluid: Significance for physiology and pathology. Neurochem Int 2004, 45: 545\u2013552.","journal-title":"Neurochem Int"},{"key":"980_CR61","doi-asserted-by":"publisher","first-page":"128","DOI":"10.1177\/1089253206288992","volume":"10","author":"DM Moody","year":"2006","unstructured":"Moody DM. The blood-brain barrier and blood-cerebral spinal fluid barrier. Semin Cardiothorac Vasc Anesth 2006, 10: 128\u2013131.","journal-title":"Semin Cardiothorac Vasc Anesth"},{"key":"980_CR62","doi-asserted-by":"publisher","first-page":"309","DOI":"10.1016\/j.anorl.2011.03.002","volume":"128","author":"L Sakka","year":"2011","unstructured":"Sakka L, Coll G, Chazal J. Anatomy and physiology of cerebrospinal fluid. Eur Ann Otorhinolaryngol Head Neck Dis 2011, 128: 309\u2013316.","journal-title":"Eur Ann Otorhinolaryngol Head Neck Dis"},{"key":"980_CR63","doi-asserted-by":"publisher","first-page":"F1275","DOI":"10.1152\/ajprenal.00458.2013","volume":"306","author":"PM Guerreiro","year":"2014","unstructured":"Guerreiro PM, Bataille AM, Parker SL, Renfro JL. Active removal of inorganic phosphate from cerebrospinal fluid by the choroid plexus. Am J Physiol Renal Physiol 2014, 306: F1275\u2013F1284.","journal-title":"Am J Physiol Renal Physiol"},{"key":"980_CR64","doi-asserted-by":"publisher","first-page":"128","DOI":"10.1016\/j.brainres.2016.02.032","volume":"1637","author":"M Inden","year":"2016","unstructured":"Inden M, Iriyama M, Zennami M, Sekine SI, Hara A, Yamada M, et al. The type III transporters (PiT-1 and PiT-2) are the major sodium-dependent phosphate transporters in the mice and human brains. Brain Res 2016, 1637: 128\u2013136.","journal-title":"Brain Res"},{"key":"980_CR65","doi-asserted-by":"publisher","first-page":"2102","DOI":"10.1074\/jbc.M117.807339","volume":"293","author":"N Bon","year":"2018","unstructured":"Bon N, Couasnay G, Bourgine A, Sourice S, Beck-Cormier S, Guicheux J, et al. Phosphate (Pi)-regulated heterodimerization of the high-affinity sodium-dependent Pi transporters PiT1\/Slc20a1 and PiT2\/Slc20a2 underlies extracellular Pi sensing independently of Pi uptake. J Biol Chem 2018, 293: 2102\u20132114.","journal-title":"J Biol Chem"},{"key":"980_CR66","doi-asserted-by":"publisher","first-page":"321","DOI":"10.1016\/j.atherosclerosis.2008.09.033","volume":"204","author":"A van Campenhout","year":"2009","unstructured":"van Campenhout A, Golledge J. Osteoprotegerin, vascular calcification and atherosclerosis. Atherosclerosis 2009, 204: 321\u2013329.","journal-title":"Atherosclerosis"},{"key":"980_CR67","doi-asserted-by":"publisher","first-page":"2685","DOI":"10.3390\/ijms21082685","volume":"21","author":"SJ Lee","year":"2020","unstructured":"Lee SJ, Lee IK, Jeon JH. Vascular calcification-new insights into its mechanism. Int J Mol Sci 2020, 21: 2685.","journal-title":"Int J Mol Sci"},{"key":"980_CR68","doi-asserted-by":"publisher","first-page":"905","DOI":"10.1161\/01.RES.0000216409.20863.e7","volume":"98","author":"X Li","year":"2006","unstructured":"Li X, Yang HY, Giachelli CM. Role of the sodium-dependent phosphate cotransporter, Pit-1, in vascular smooth muscle cell calcification. Circ Res 2006, 98: 905\u2013912.","journal-title":"Circ Res"},{"key":"980_CR69","doi-asserted-by":"publisher","first-page":"39","DOI":"10.1016\/j.yexcr.2015.02.002","volume":"333","author":"NW Chavkin","year":"2015","unstructured":"Chavkin NW, Chia JJ, Crouthamel MH, Giachelli CM. Phosphate uptake-independent signaling functions of the type III sodium-dependent phosphate transporter, PiT-1, in vascular smooth muscle cells. Exp Cell Res 2015, 333: 39\u201348.","journal-title":"Exp Cell Res"},{"key":"980_CR70","doi-asserted-by":"publisher","first-page":"1385","DOI":"10.1073\/pnas.96.4.1385","volume":"96","author":"JL Battini","year":"1999","unstructured":"Battini JL, Rasko JE, Miller AD. A human cell-surface receptor for xenotropic and polytropic murine leukemia viruses: Possible role in G protein-coupled signal transduction. Proc Natl Acad Sci U S A 1999, 96: 1385\u20131390.","journal-title":"Proc Natl Acad Sci U S A"},{"key":"980_CR71","doi-asserted-by":"publisher","first-page":"927","DOI":"10.1073\/pnas.96.3.927","volume":"96","author":"CS Tailor","year":"1999","unstructured":"Tailor CS, Nouri A, Lee CG, Kozak C, Kabat D. Cloning and characterization of a cell surface receptor for xenotropic and polytropic murine leukemia viruses. Proc Natl Acad Sci U S A 1999, 96: 927\u2013932.","journal-title":"Proc Natl Acad Sci U S A"},{"key":"980_CR72","doi-asserted-by":"publisher","first-page":"1866","DOI":"10.1016\/j.celrep.2013.05.035","volume":"3","author":"D Giovannini","year":"2013","unstructured":"Giovannini D, Touhami J, Charnet P, Sitbon M, Battini JL. Inorganic phosphate export by the retrovirus receptor XPR1 in metazoans. Cell Rep 2013, 3: 1866\u20131873.","journal-title":"Cell Rep"},{"key":"980_CR73","doi-asserted-by":"publisher","first-page":"842","DOI":"10.1111\/j.1469-8137.2011.04002.x","volume":"193","author":"D Secco","year":"2012","unstructured":"Secco D, Wang C, Arpat BA, Wang Z, Poirier Y, Tyerman SD, et al. The emerging importance of the SPX domain-containing proteins in phosphate homeostasis. New Phytol 2012, 193: 842\u2013851.","journal-title":"New Phytol"},{"key":"980_CR74","doi-asserted-by":"publisher","first-page":"289","DOI":"10.1016\/j.febslet.2012.01.036","volume":"586","author":"D Secco","year":"2012","unstructured":"Secco D, Wang C, Shou H, Whelan J. Phosphate homeostasis in the yeast Saccharomyces cerevisiae, the key role of the SPX domain-containing proteins. FEBS Lett 2012, 586: 289\u2013295.","journal-title":"FEBS Lett"},{"key":"980_CR75","doi-asserted-by":"publisher","first-page":"3568","DOI":"10.1073\/pnas.1908830117","volume":"117","author":"X Li","year":"2020","unstructured":"Li X, Gu C, Hostachy S, Sahu S, Wittwer C, Jessen HJ, et al. Control of XPR1-dependent cellular phosphate efflux by InsP8 is an exemplar for functionally-exclusive inositol pyrophosphate signaling. Proc Natl Acad Sci U S A 2020, 117: 3568\u20133574.","journal-title":"Proc Natl Acad Sci U S A"},{"key":"980_CR76","doi-asserted-by":"publisher","first-page":"1659","DOI":"10.1016\/j.celrep.2014.08.018","volume":"8","author":"AM Meireles","year":"2014","unstructured":"Meireles AM, Shiau CE, Guenther CA, Sidik H, Kingsley DM, Talbot WS. The phosphate exporter xpr1b is required for differentiation of tissue-resident macrophages. Cell Rep 2014, 8: 1659\u20131667.","journal-title":"Cell Rep"},{"key":"980_CR77","doi-asserted-by":"publisher","first-page":"116","DOI":"10.1002\/jbmr.3866","volume":"35","author":"X Xu","year":"2020","unstructured":"Xu X, Li X, Sun H, Cao Z, Gao R, Niu T, et al. Murine placental-fetal phosphate dyshomeostasis caused by an Xpr1 deficiency accelerates placental calcification and restricts fetal growth in late gestation. J Bone Miner Res 2020, 35: 116\u2013129.","journal-title":"J Bone Miner Res"},{"key":"980_CR78","doi-asserted-by":"publisher","first-page":"1073","DOI":"10.1681\/ASN.2016070726","volume":"28","author":"C Ansermet","year":"2017","unstructured":"Ansermet C, Moor MB, Centeno G, Auberson M, Hu DZ, Baron R, et al. Renal fanconi syndrome and hypophosphatemic rickets in the absence of xenotropic and polytropic retroviral receptor in the nephron. J Am Soc Nephrol 2017, 28: 1073\u20131078.","journal-title":"J Am Soc Nephrol"},{"key":"980_CR79","doi-asserted-by":"publisher","first-page":"11597","DOI":"10.1074\/jbc.RA119.007848","volume":"294","author":"MS Wilson","year":"2019","unstructured":"Wilson MS, Jessen HJ, Saiardi A. The inositol hexakisphosphate kinases IP6K1 and-2 regulate human cellular phosphate homeostasis, including XPR1-mediated phosphate export. J Biol Chem 2019, 294: 11597\u201311608.","journal-title":"J Biol Chem"},{"key":"980_CR80","doi-asserted-by":"publisher","first-page":"1392","DOI":"10.1182\/blood.2019004617","volume":"137","author":"RK Mailer","year":"2021","unstructured":"Mailer RK, Allende M, Heestermans M, Schweizer M, Deppermann C, Frye M, et al. Xenotropic and polytropic retrovirus receptor 1 regulates procoagulant platelet polyphosphate. Blood 2021, 137: 1392\u20131405.","journal-title":"Blood"},{"key":"980_CR81","doi-asserted-by":"publisher","first-page":"1478","DOI":"10.1182\/blood-2013-01-481549","volume":"122","author":"S Ghosh","year":"2013","unstructured":"Ghosh S, Shukla D, Suman K, Lakshmi BJ, Manorama R, Kumar S, et al. Inositol hexakisphosphate kinase 1 maintains hemostasis in mice by regulating platelet polyphosphate levels. Blood 2013, 122: 1478\u20131486.","journal-title":"Blood"},{"key":"980_CR82","doi-asserted-by":"publisher","first-page":"986","DOI":"10.1126\/science.aad9858","volume":"352","author":"R Wild","year":"2016","unstructured":"Wild R, Gerasimaite R, Jung JY, Truffault V, Pavlovic I, Schmidt A, et al. Control of eukaryotic phosphate homeostasis by inositol polyphosphate sensor domains. Science 2016, 352: 986\u2013990.","journal-title":"Science"},{"key":"980_CR83","doi-asserted-by":"publisher","first-page":"648","DOI":"10.1021\/acschembio.7b00026","volume":"12","author":"R Gerasimaite","year":"2017","unstructured":"Gerasimaite R, Pavlovic I, Capolicchio S, Hofer A, Schmidt A, Jessen HJ, et al. Inositol pyrophosphate specificity of the SPX-dependent polyphosphate polymerase VTC. ACS Chem Biol 2017, 12: 648\u2013653.","journal-title":"ACS Chem Biol"},{"key":"980_CR84","doi-asserted-by":"publisher","first-page":"992","DOI":"10.1080\/09537104.2020.1817358","volume":"32","author":"N Abbasian","year":"2021","unstructured":"Abbasian N, Harper MT. High extracellular phosphate increases platelet polyphosphate content. Platelets 2021, 32: 992\u2013994.","journal-title":"Platelets"},{"key":"980_CR85","doi-asserted-by":"publisher","first-page":"723","DOI":"10.1038\/nrn3114","volume":"12","author":"BV Zlokovic","year":"2011","unstructured":"Zlokovic BV. Neurovascular pathways to neurodegeneration in Alzheimer\u2019s disease and other disorders. Nat Rev Neurosci 2011, 12: 723\u2013738.","journal-title":"Nat Rev Neurosci"},{"key":"980_CR86","doi-asserted-by":"publisher","first-page":"627","DOI":"10.1007\/s12264-017-0156-8","volume":"33","author":"B Niu","year":"2017","unstructured":"Niu B, Zhang T, Hu H, Cao B. Transcriptome sequencing reveals astrocytes as a therapeutic target in heat-stroke. Neurosci Bull 2017, 33: 627\u2013640.","journal-title":"Neurosci Bull"},{"key":"980_CR87","doi-asserted-by":"publisher","first-page":"178","DOI":"10.1016\/j.neuron.2008.01.003","volume":"57","author":"BV Zlokovic","year":"2008","unstructured":"Zlokovic BV. The blood-brain barrier in health and chronic neurodegenerative disorders. Neuron 2008, 57: 178\u2013201.","journal-title":"Neuron"},{"key":"980_CR88","doi-asserted-by":"publisher","first-page":"334","DOI":"10.3389\/fnins.2020.00334","volume":"14","author":"X Yu","year":"2020","unstructured":"Yu X, Ji C, Shao A. Neurovascular unit dysfunction and neurodegenerative disorders. Front Neurosci 2020, 14: 334.","journal-title":"Front Neurosci"},{"key":"980_CR89","doi-asserted-by":"publisher","first-page":"557","DOI":"10.1038\/nature09522","volume":"468","author":"A Armulik","year":"2010","unstructured":"Armulik A, Genov\u00e9 G, M\u00e4e M, Nisancioglu MH, Wallgard E, Niaudet C, et al. Pericytes regulate the blood\u2013brain barrier. Nature 2010, 468: 557\u2013561.","journal-title":"Nature"},{"key":"980_CR90","doi-asserted-by":"publisher","first-page":"409","DOI":"10.1016\/j.neuron.2010.09.043","volume":"68","author":"RD Bell","year":"2010","unstructured":"Bell RD, Winkler EA, Sagare AP, Singh I, LaRue B, Deane R, et al. Pericytes control key neurovascular functions and neuronal phenotype in the adult brain and during brain aging. Neuron 2010, 68: 409\u2013427.","journal-title":"Neuron"},{"key":"980_CR91","doi-asserted-by":"publisher","first-page":"562","DOI":"10.1038\/nature09513","volume":"468","author":"R Daneman","year":"2010","unstructured":"Daneman R, Zhou L, Kebede AA, Barres BA. Pericytes are required for blood\u2013brain barrier integrity during embryogenesis. Nature 2010, 468: 562\u2013566.","journal-title":"Nature"},{"key":"980_CR92","doi-asserted-by":"publisher","first-page":"242","DOI":"10.1126\/science.277.5323.242","volume":"277","author":"P Lindahl","year":"1997","unstructured":"Lindahl P, Johansson BR, Lev\u00e9en P, Betsholtz C. Pericyte loss and microaneurysm formation in PDGF-B-deficient mice. Science 1997, 277: 242\u2013245.","journal-title":"Science"},{"key":"980_CR93","doi-asserted-by":"publisher","first-page":"543","DOI":"10.1083\/jcb.153.3.543","volume":"153","author":"M Hellstr\u00f6m","year":"2001","unstructured":"Hellstr\u00f6m M, Gerhardt H, Kal\u00e9n M, Li X, Eriksson U, Wolburg H, et al. Lack of pericytes leads to endothelial hyperplasia and abnormal vascular morphogenesis. J Cell Biol 2001, 153: 543\u2013553.","journal-title":"J Cell Biol"},{"key":"980_CR94","doi-asserted-by":"publisher","first-page":"E52","DOI":"10.1371\/journal.pbio.0000052","volume":"1","author":"MD Tallquist","year":"2003","unstructured":"Tallquist MD, French WJ, Soriano P. Additive effects of PDGF receptor beta signaling pathways in vascular smooth muscle cell development. PLoS Biol 2003, 1: E52.","journal-title":"PLoS Biol"},{"key":"980_CR95","doi-asserted-by":"publisher","first-page":"121","DOI":"10.1016\/0165-3806(92)90213-G","volume":"67","author":"JB Hutchins","year":"1992","unstructured":"Hutchins JB, Jefferson VE. Developmental distribution of platelet-derived growth factor in the mouse central nervous system. Brain Res Dev Brain Res 1992, 67: 121\u2013135.","journal-title":"Brain Res Dev Brain Res"},{"key":"980_CR96","doi-asserted-by":"publisher","first-page":"588","DOI":"10.1111\/j.1471-4159.2006.03922.x","volume":"98","author":"Y Ishii","year":"2006","unstructured":"Ishii Y, Oya T, Zheng L, Gao Z, Kawaguchi M, Sabit H, et al. Mouse brains deficient in neuronal PDGF receptor-beta develop normally but are vulnerable to injury. J Neurochem 2006, 98: 588\u2013600.","journal-title":"J Neurochem"},{"key":"980_CR97","doi-asserted-by":"publisher","first-page":"3179","DOI":"10.1101\/gad.844700","volume":"14","author":"MD Tallquist","year":"2000","unstructured":"Tallquist MD, Klinghoffer RA, Heuchel R, Mueting-Nelsen PF, Corrin PD, Heldin CH, et al. Retention of PDGFR-beta function in mice in the absence of phosphatidylinositol 3\u2019-kinase and phospholipase Cgamma signaling pathways. Genes Dev 2000, 14: 3179\u20133190.","journal-title":"Genes Dev"},{"key":"980_CR98","doi-asserted-by":"publisher","first-page":"197","DOI":"10.1016\/j.cytogfr.2004.03.007","volume":"15","author":"L Fredriksson","year":"2004","unstructured":"Fredriksson L, Li H, Eriksson U. The PDGF family: Four gene products form five dimeric isoforms. Cytokine Growth Factor Rev 2004, 15: 197\u2013204.","journal-title":"Cytokine Growth Factor Rev"},{"key":"980_CR99","doi-asserted-by":"publisher","first-page":"964","DOI":"10.1002\/humu.22582","volume":"35","author":"M Sanchez-Contreras","year":"2014","unstructured":"Sanchez-Contreras M, Baker MC, Finch NA, Nicholson A, Wojtas A, Wszolek ZK, et al. Genetic screening and functional characterization of PDGFRB mutations associated with basal ganglia calcification of unknown etiology. Hum Mutat 2014, 35: 964\u2013971.","journal-title":"Hum Mutat"},{"key":"980_CR100","doi-asserted-by":"publisher","first-page":"239","DOI":"10.1111\/jcmm.12443","volume":"19","author":"FA Arts","year":"2015","unstructured":"Arts FA, Velghe AI, Stevens M, Renauld JC, Essaghir A, Demoulin JB. Idiopathic basal ganglia calcification-associated PDGFRB mutations impair the receptor signalling. J Cell Mol Med 2015, 19: 239\u2013248.","journal-title":"J Cell Mol Med"},{"key":"980_CR101","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0143407","volume":"10","author":"M Vanlandewijck","year":"2015","unstructured":"Vanlandewijck M, Lebouvier T, Andaloussi M\u00e4e M, Nahar K, Hornemann S, Kenkel D, et al. Functional characterization of germline mutations in PDGFB and PDGFRB in primary familial brain calcification. PLoS One 2015, 10: e0143407.","journal-title":"PLoS One"},{"key":"980_CR102","doi-asserted-by":"publisher","first-page":"17","DOI":"10.1016\/j.atherosclerosis.2003.12.039","volume":"174","author":"A Kakita","year":"2004","unstructured":"Kakita A, Suzuki A, Nishiwaki K, Ono Y, Kotake M, Ariyoshi Y, et al. Stimulation of Na-dependent phosphate transport by platelet-derived growth factor in rat aortic smooth muscle cells. Atherosclerosis 2004, 174: 17\u201324.","journal-title":"Atherosclerosis"},{"key":"980_CR103","doi-asserted-by":"publisher","first-page":"1151","DOI":"10.1007\/s00424-009-0688-5","volume":"458","author":"R Villa-Bellosta","year":"2009","unstructured":"Villa-Bellosta R, Levi M, Sorribas V. Vascular smooth muscle cell calcification and SLC20 inorganic phosphate transporters: Effects of PDGF, TNF-alpha, and Pi. Pflugers Arch 2009, 458: 1151\u20131161.","journal-title":"Pflugers Arch"},{"key":"980_CR104","doi-asserted-by":"publisher","first-page":"93","DOI":"10.1016\/j.bbrc.2022.01.045","volume":"593","author":"N Takase","year":"2022","unstructured":"Takase N, Inden M, Murayama Y, Mishima A, Kurita H, Hozumi I. PDGF-BB is involved in phosphate regulation via the phosphate transporters in human neuroblastoma SH-SY5Y cells. Biochem Biophys Res Commun 2022, 593: 93\u2013100.","journal-title":"Biochem Biophys Res Commun"},{"key":"980_CR105","doi-asserted-by":"publisher","first-page":"1875","DOI":"10.1101\/gad.8.16.1875","volume":"8","author":"P Lev\u00e9en","year":"1994","unstructured":"Lev\u00e9en P, Pekny M, Gebre-Medhin S, Swolin B, Larsson E, Betsholtz C. Mice deficient for PDGF B show renal, cardiovascular, and hematological abnormalities. Genes Dev 1994, 8: 1875\u20131887.","journal-title":"Genes Dev"},{"key":"980_CR106","doi-asserted-by":"publisher","first-page":"1888","DOI":"10.1101\/gad.8.16.1888","volume":"8","author":"P Soriano","year":"1994","unstructured":"Soriano P. Abnormal kidney development and hematological disorders in PDGF beta-receptor mutant mice. Genes Dev 1994, 8: 1888\u20131896.","journal-title":"Genes Dev"},{"key":"980_CR107","doi-asserted-by":"publisher","first-page":"1835","DOI":"10.1101\/gad.266803","volume":"17","author":"P Lindblom","year":"2003","unstructured":"Lindblom P, Gerhardt H, Liebner S, Abramsson A, Enge M, Hellstrom M, et al. Endothelial PDGF-B retention is required for proper investment of pericytes in the microvessel wall. Genes Dev 2003, 17: 1835\u20131840.","journal-title":"Genes Dev"},{"key":"980_CR108","doi-asserted-by":"publisher","first-page":"29666","DOI":"10.1074\/jbc.M109.034041","volume":"284","author":"K Datta","year":"2009","unstructured":"Datta K, Guan T, Gerace L. NET37, a nuclear envelope transmembrane protein with glycosidase homology, is involved in myoblast differentiation. J Biol Chem 2009, 284: 29666\u201329676.","journal-title":"J Biol Chem"},{"key":"980_CR109","doi-asserted-by":"publisher","first-page":"70","DOI":"10.1016\/j.neuint.2019.04.005","volume":"128","author":"HL McConnell","year":"2019","unstructured":"McConnell HL, Li Z, Woltjer RL, Mishra A. Astrocyte dysfunction and neurovascular impairment in neurological disorders: Correlation or causation? Neurochem Int 2019, 128: 70\u201384.","journal-title":"Neurochem Int"},{"key":"980_CR110","doi-asserted-by":"publisher","first-page":"412","DOI":"10.1016\/j.ajhg.2020.02.007","volume":"106","author":"LV Schottlaender","year":"2020","unstructured":"Schottlaender LV, Abeti R, Jaunmuktane Z, MacMillan C, Chelban V, O\u2019Callaghan B, et al. Bi-allelic JAM2 variants lead to early-onset recessive primary familial brain calcification. Am J Hum Genet 2020, 106: 412\u2013421.","journal-title":"Am J Hum Genet"},{"key":"980_CR111","doi-asserted-by":"publisher","first-page":"45826","DOI":"10.1074\/jbc.M105972200","volume":"276","author":"MP Arrate","year":"2001","unstructured":"Arrate MP, Rodriguez JM, Tran TM, Brock TA, Cunningham SA. Cloning of human junctional adhesion molecule 3 (JAM3) and its identification as the JAM2 counter-receptor. J Biol Chem 2001, 276: 45826\u201345832.","journal-title":"J Biol Chem"},{"key":"980_CR112","doi-asserted-by":"publisher","first-page":"882","DOI":"10.1016\/j.ajhg.2010.10.026","volume":"87","author":"GH Mochida","year":"2010","unstructured":"Mochida GH, Ganesh VS, Felie JM, Gleason D, Hill RS, Clapham KR, et al. A homozygous mutation in the tight-junction protein JAM3 causes hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts. Am J Hum Genet 2010, 87: 882\u2013889.","journal-title":"Am J Hum Genet"},{"key":"980_CR113","doi-asserted-by":"publisher","first-page":"354","DOI":"10.1016\/j.ajhg.2010.07.012","volume":"87","author":"MC O'Driscoll","year":"2010","unstructured":"O\u2019Driscoll MC, Daly SB, Urquhart JE, Black GCM, Pilz DT, Brockmann K, et al. Recessive mutations in the gene encoding the tight junction protein occludin cause band-like calcification with simplified gyration and polymicrogyria. Am J Hum Genet 2010, 87: 354\u2013364.","journal-title":"Am J Hum Genet"},{"key":"980_CR114","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0045619","volume":"7","author":"L Wyss","year":"2012","unstructured":"Wyss L, Sch\u00e4fer J, Liebner S, Mittelbronn M, Deutsch U, Enzmann G, et al. Junctional adhesion molecule (JAM)-C deficient C57BL\/6 mice develop a severe hydrocephalus. PLoS One 2012, 7: e45619.","journal-title":"PLoS One"},{"key":"980_CR115","doi-asserted-by":"publisher","first-page":"498","DOI":"10.1002\/humu.22263","volume":"34","author":"NA Akawi","year":"2013","unstructured":"Akawi NA, Canpolat FE, White SM, Quilis-Esquerra J, Morales Sanchez M, Gamundi MJ, et al. Delineation of the clinical, molecular and cellular aspects of novel JAM3 mutations underlying the autosomal recessive hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts. Hum Mutat 2013, 34: 498\u2013505.","journal-title":"Hum Mutat"},{"key":"980_CR116","doi-asserted-by":"publisher","first-page":"4992","DOI":"10.1091\/mbc.e05-04-0310","volume":"16","author":"C Lamagna","year":"2005","unstructured":"Lamagna C, Meda P, Mandicourt G, Brown J, Gilbert RJC, Jones EY, et al. Dual interaction of JAM-C with JAM-B and alpha(M)beta2 integrin: Function in junctional complexes and leukocyte adhesion. Mol Biol Cell 2005, 16: 4992\u20135003.","journal-title":"Mol Biol Cell"},{"key":"980_CR117","doi-asserted-by":"publisher","first-page":"701","DOI":"10.1007\/s00441-014-1820-1","volume":"355","author":"S Garrido-Urbani","year":"2014","unstructured":"Garrido-Urbani S, Bradfield PF, Imhof BA. Tight junction dynamics: The role of junctional adhesion molecules (JAMs). Cell Tissue Res 2014, 355: 701\u2013715.","journal-title":"Cell Tissue Res"},{"key":"980_CR118","doi-asserted-by":"publisher","first-page":"148","DOI":"10.1097\/00005072-196301000-00011","volume":"22","author":"MA Neumann","year":"1963","unstructured":"Neumann MA. Iron and calcium dysmetabolism in the brain with special predilection for globus pallidus and cerebellum. J Neuropathol Exp Neurol 1963, 22: 148\u2013163.","journal-title":"J Neuropathol Exp Neurol"},{"key":"980_CR119","doi-asserted-by":"publisher","first-page":"7","DOI":"10.1007\/BF00691269","volume":"38","author":"S Duckett","year":"1977","unstructured":"Duckett S, Galle P, Escourolle R, Poirier J, Hauw JJ. Presence of zinc, aluminum, magnesium in striopalledodentate (SPD) calcifications (Fahr\u2019s disease): Electron probe study. Acta Neuropathol 1977, 38: 7\u201310.","journal-title":"Acta Neuropathol"},{"key":"980_CR120","doi-asserted-by":"publisher","first-page":"1865","DOI":"10.1016\/j.ajpath.2018.04.010","volume":"188","author":"N Jensen","year":"2018","unstructured":"Jensen N, Schr\u00f8der HD, Hejb\u00f8l EK, Thomsen JS, Br\u00fcel A, Larsen FT, et al. Mice knocked out for the primary brain calcification-associated gene Slc20a2 show unimpaired prenatal survival but retarded growth and nodules in the brain that grow and calcify over time. Am J Pathol 2018, 188: 1865\u20131881.","journal-title":"Am J Pathol"},{"key":"980_CR121","doi-asserted-by":"publisher","first-page":"46","DOI":"10.1159\/000313920","volume":"2","author":"I Hozumi","year":"2010","unstructured":"Hozumi I, Kohmura A, Kimura A, Hasegawa T, Honda A, Hayashi Y, et al. High levels of copper, zinc, iron and magnesium, but not calcium, in the cerebrospinal fluid of patients with Fahr\u2019s disease. Case Rep Neurol 2010, 2: 46\u201351.","journal-title":"Case Rep Neurol"},{"key":"980_CR122","doi-asserted-by":"publisher","first-page":"137","DOI":"10.1006\/nbdi.1997.0163","volume":"4","author":"MP Cuajungco","year":"1997","unstructured":"Cuajungco MP, Lees GJ. Zinc metabolism in the brain: Relevance to human neurodegenerative disorders. Neurobiol Dis 1997, 4: 137\u2013169.","journal-title":"Neurobiol Dis"},{"key":"980_CR123","doi-asserted-by":"publisher","first-page":"547","DOI":"10.1080\/10408360390250649","volume":"40","author":"ED Harris","year":"2003","unstructured":"Harris ED. Basic and clinical aspects of copper. Crit Rev Clin Lab Sci 2003, 40: 547\u2013586.","journal-title":"Crit Rev Clin Lab Sci"},{"key":"980_CR124","doi-asserted-by":"publisher","first-page":"95","DOI":"10.1016\/j.jns.2011.01.003","volume":"303","author":"I Hozumi","year":"2011","unstructured":"Hozumi I, Hasegawa T, Honda A, Ozawa K, Hayashi Y, Hashimoto K, et al. Patterns of levels of biological metals in CSF differ among neurodegenerative diseases. J Neurol Sci 2011, 303: 95\u201399.","journal-title":"J Neurol Sci"},{"key":"980_CR125","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0033552","volume":"7","author":"TJ Craddock","year":"2012","unstructured":"Craddock TJ, Tuszynski JA, Chopra D, Casey N, Goldstein LE, Hameroff SR, et al. The zinc dyshomeostasis hypothesis of Alzheimer\u2019s disease. PLoS One 2012, 7: e33552.","journal-title":"PLoS One"},{"key":"980_CR126","doi-asserted-by":"publisher","first-page":"510","DOI":"10.1016\/j.neurobiolaging.2010.04.032","volume":"33","author":"L Penke","year":"2012","unstructured":"Penke L, Vald\u00e9s Hernand\u00e9z MC, Maniega SM, Gow AJ, Murray C, Starr JM, et al. Brain iron deposits are associated with general cognitive ability and cognitive aging. Neurobiol Aging 2012, 33: 510-517.e2.","journal-title":"Neurobiol Aging"},{"key":"980_CR127","doi-asserted-by":"publisher","first-page":"6731","DOI":"10.1523\/JNEUROSCI.4717-14.2015","volume":"35","author":"AM Daugherty","year":"2015","unstructured":"Daugherty AM, Haacke EM, Raz N. Striatal iron content predicts its shrinkage and changes in verbal working memory after two years in healthy adults. J Neurosci 2015, 35: 6731\u20136743.","journal-title":"J Neurosci"},{"key":"980_CR128","doi-asserted-by":"publisher","first-page":"364","DOI":"10.1523\/JNEUROSCI.1907-15.2016","volume":"36","author":"J Acosta-Cabronero","year":"2016","unstructured":"Acosta-Cabronero J, Betts MJ, Cardenas-Blanco A, Yang S, Nestor PJ. In vivo MRI mapping of brain iron deposition across the adult lifespan. J Neurosci 2016, 36: 364\u2013374.","journal-title":"J Neurosci"},{"key":"980_CR129","doi-asserted-by":"publisher","first-page":"1229","DOI":"10.3233\/JAD-200656","volume":"78","author":"M Shams","year":"2020","unstructured":"Shams M, Martola J, Charidimou A, Granberg T, Ferreira D, Westman E, et al. Cerebrospinal fluid metals and the association with cerebral small vessel disease. J Alzheimer\u2019s Dis 2020, 78: 1229\u20131236.","journal-title":"J Alzheimer's Dis"},{"key":"980_CR130","doi-asserted-by":"publisher","first-page":"626","DOI":"10.1111\/jnc.14716","volume":"151","author":"A August","year":"2019","unstructured":"August A, Schmidt N, Klingler J, Baumk\u00f6tter F, Lechner M, Klement J, et al. Copper and zinc ions govern the trans-directed dimerization of APP family members in multiple ways. J Neurochem 2019, 151: 626\u2013641.","journal-title":"J Neurochem"},{"key":"980_CR131","doi-asserted-by":"publisher","first-page":"446","DOI":"10.1111\/bpa.12787","volume":"30","author":"K Nahar","year":"2020","unstructured":"Nahar K, Lebouvier T, M\u00e4e MA, Konzer A, Bergquist J, Zarb Y, et al. Astrocyte-microglial association and matrix composition are common events in the natural history of primary familial brain calcification. Brain Pathol 2020, 30: 446\u2013464.","journal-title":"Brain Pathol"},{"key":"980_CR132","doi-asserted-by":"publisher","first-page":"2959","DOI":"10.1097\/01.ASN.0000145894.57533.C4","volume":"15","author":"C Giachelli","year":"2004","unstructured":"Giachelli C. Vascular calcification mechanisms. J Am Soc Nephrol 2004, 15: 2959\u20132964.","journal-title":"J Am Soc Nephrol"},{"key":"980_CR133","doi-asserted-by":"publisher","first-page":"267","DOI":"10.1016\/j.tcm.2014.10.021","volume":"25","author":"JA Leopold","year":"2015","unstructured":"Leopold JA. Vascular calcification: Mechanisms of vascular smooth muscle cell calcification. Trends Cardiovasc Med 2015, 25: 267\u2013274.","journal-title":"Trends Cardiovasc Med"},{"key":"980_CR134","doi-asserted-by":"publisher","first-page":"78","DOI":"10.1038\/386078a0","volume":"386","author":"G Luo","year":"1997","unstructured":"Luo G, Ducy P, McKee MD, Pinero GJ, Loyer E, Behringer RR, et al. Spontaneous calcification of arteries and cartilage in mice lacking matrix GLA protein. Nature 1997, 386: 78\u201381.","journal-title":"Nature"},{"key":"980_CR135","doi-asserted-by":"publisher","first-page":"145","DOI":"10.1007\/s00223-001-1121-z","volume":"71","author":"AL Boskey","year":"2002","unstructured":"Boskey AL, Spevak L, Paschalis E, Doty SB, McKee MD. Osteopontin deficiency increases mineral content and mineral crystallinity in mouse bone. Calcif Tissue Int 2002, 71: 145\u2013154.","journal-title":"Calcif Tissue Int"},{"key":"980_CR136","doi-asserted-by":"publisher","first-page":"1494","DOI":"10.1161\/CIRCRESAHA.110.234260","volume":"108","author":"W Jahnen-Dechent","year":"2011","unstructured":"Jahnen-Dechent W, Heiss A, Sch\u00e4fer C, Ketteler M. Fetuin-A regulation of calcified matrix metabolism. Circ Res 2011, 108: 1494\u20131509.","journal-title":"Circ Res"},{"key":"980_CR137","doi-asserted-by":"publisher","first-page":"295","DOI":"10.1002\/jez.b.21088","volume":"306","author":"K Kawasaki","year":"2006","unstructured":"Kawasaki K, Weiss KM. Evolutionary genetics of vertebrate tissue mineralization: The origin and evolution of the secretory calcium-binding phosphoprotein family. J Exp Zool B Mol Dev Evol 2006, 306: 295\u2013316.","journal-title":"J Exp Zool B Mol Dev Evol"},{"key":"980_CR138","doi-asserted-by":"publisher","first-page":"10800","DOI":"10.1523\/JNEUROSCI.23-34-10800.2003","volume":"23","author":"J Alder","year":"2003","unstructured":"Alder J, Thakker-Varia S, Bangasser DA, Kuroiwa M, Plummer MR, Shors TJ, et al. Brain-derived neurotrophic factor-induced gene expression reveals novel actions of VGF in hippocampal synaptic plasticity. J Neurosci 2003, 23: 10800\u201310808.","journal-title":"J Neurosci"},{"key":"980_CR139","doi-asserted-by":"publisher","first-page":"2266","DOI":"10.1038\/emboj.2011.119","volume":"30","author":"SW Weyer","year":"2011","unstructured":"Weyer SW, Klevanski M, Delekate A, Voikar V, Aydin D, Hick M, et al. APP and APLP2 are essential at PNS and CNS synapses for transmission, spatial learning and LTP. EMBO J 2011, 30: 2266\u20132280.","journal-title":"EMBO J"},{"key":"980_CR140","doi-asserted-by":"publisher","first-page":"3","DOI":"10.1385\/EP:14:1:3","volume":"14","author":"SA Feldman","year":"2003","unstructured":"Feldman SA, Eiden LE. The chromogranins: Their roles in secretion from neuroendocrine cells and as markers for neuroendocrine neoplasia. Endocr Pathol 2003, 14: 3\u201323.","journal-title":"Endocr Pathol"},{"key":"980_CR141","doi-asserted-by":"publisher","first-page":"68","DOI":"10.1016\/j.bbapap.2011.10.002","volume":"1824","author":"V Turk","year":"2012","unstructured":"Turk V, Stoka V, Vasiljeva O, Renko M, Sun T, Turk B, et al. Cysteine cathepsins: From structure, function and regulation to new frontiers. Biochim Biophys Acta 2012, 1824: 68\u201388.","journal-title":"Biochim Biophys Acta"},{"key":"980_CR142","doi-asserted-by":"publisher","first-page":"74","DOI":"10.1007\/s002239900397","volume":"62","author":"EA Cowles","year":"1998","unstructured":"Cowles EA, DeRome ME, Pastizzo G, Brailey LL, Gronowicz GA. Mineralization and the expression of matrix proteins during in vivo bone development. Calcif Tissue Int 1998, 62: 74\u201382.","journal-title":"Calcif Tissue Int"},{"key":"980_CR143","first-page":"189","volume":"3","author":"X Feng","year":"2009","unstructured":"Feng X. Chemical and biochemical basis of cell-bone matrix interaction in health and disease. Curr Chem Biol 2009, 3: 189\u2013196.","journal-title":"Curr Chem Biol"},{"key":"980_CR144","first-page":"gin\/33.65","volume":"33","author":"E Houben","year":"2016","unstructured":"Houben E, Neradova A, Schurgers LJ, Vervloet M. The influence of phosphate, calcium and magnesium on matrix Gla-protein and vascular calcification: A systematic review. G Ital Nefrol 2016, 33: gin\/33.65.","journal-title":"G Ital Nefrol"},{"key":"980_CR145","doi-asserted-by":"publisher","first-page":"885","DOI":"10.1093\/brain\/awz032","volume":"142","author":"Y Zarb","year":"2019","unstructured":"Zarb Y, Weber-Stadlbauer U, Kirschenbaum D, Kindler DR, Richetto J, Keller D, et al. Ossified blood vessels in primary familial brain calcification elicit a neurotoxic astrocyte response. Brain 2019, 142: 885\u2013902.","journal-title":"Brain"},{"key":"980_CR146","doi-asserted-by":"publisher","first-page":"eabc4898","DOI":"10.1126\/sciadv.abc4898","volume":"7","author":"Y Zarb","year":"2021","unstructured":"Zarb Y, Sridhar S, Nassiri S, Utz SG, Schaffenrath J, Maheshwari U, et al. Microglia control small vessel calcification via TREM2. Sci Adv 2021, 7: eabc4898.","journal-title":"Sci Adv"},{"key":"980_CR147","doi-asserted-by":"publisher","first-page":"4999","DOI":"10.3390\/ijms22094999","volume":"22","author":"HN Lee","year":"2021","unstructured":"Lee HN, Jeong MS, Jang SB. Molecular characteristics of amyloid precursor protein (APP) and its effects in cancer. Int J Mol Sci 2021, 22: 4999.","journal-title":"Int J Mol Sci"},{"key":"980_CR148","doi-asserted-by":"publisher","first-page":"fca261","DOI":"10.1093\/braincomms\/fcab261","volume":"3","author":"JP Quinn","year":"2021","unstructured":"Quinn JP, Kandigian SE, Trombetta BA, Arnold SE, Carlyle BC. VGF as a biomarker and therapeutic target in neurodegenerative and psychiatric diseases. Brain Commun 2021, 3: fca261.","journal-title":"Brain Commun"},{"key":"980_CR149","doi-asserted-by":"publisher","first-page":"254","DOI":"10.1007\/s12264-019-00434-0","volume":"36","author":"X Zhang","year":"2020","unstructured":"Zhang X, Zhao F, Wang C, Zhang J, Bai Y, Zhou F, et al. AVP(4\u20138) improves cognitive behaviors and hippocampal synaptic plasticity in the APP\/PS1 mouse model of Alzheimer\u2019s disease. Neurosci Bull 2020, 36: 254\u2013262.","journal-title":"Neurosci Bull"},{"key":"980_CR150","doi-asserted-by":"publisher","first-page":"610","DOI":"10.1007\/s00223-020-00796-y","volume":"108","author":"CJM Stapledon","year":"2021","unstructured":"Stapledon CJM, Stamenkov R, Cappai R, Clark JM, Bourke A, Solomon LB, et al. Relationships between the bone expression of Alzheimer\u2019s disease-related genes, bone remodelling genes and cortical bone structure in neck of femur fracture. Calcif Tissue Int 2021, 108: 610\u2013621.","journal-title":"Calcif Tissue Int"},{"key":"980_CR151","doi-asserted-by":"publisher","first-page":"1084","DOI":"10.1002\/jbmr.299","volume":"26","author":"S Cui","year":"2011","unstructured":"Cui S, Xiong F, Hong Y, Jung JU, Li XS, Liu JZ, et al. APPswe\/A\u03b2 regulation of osteoclast activation and RAGE expression in an age-dependent manner. J Bone Miner Res 2011, 26: 1084\u20131098.","journal-title":"J Bone Miner Res"},{"key":"980_CR152","doi-asserted-by":"publisher","first-page":"164","DOI":"10.1016\/j.bone.2014.01.010","volume":"61","author":"S Li","year":"2014","unstructured":"Li S, Liu B, Zhang L, Rong L. Amyloid beta peptide is elevated in osteoporotic bone tissues and enhances osteoclast function. Bone 2014, 61: 164\u2013175.","journal-title":"Bone"},{"key":"980_CR153","doi-asserted-by":"publisher","first-page":"7260","DOI":"10.1073\/pnas.87.18.7260","volume":"87","author":"N Udagawa","year":"1990","unstructured":"Udagawa N, Takahashi N, Akatsu T, Tanaka H, Sasaki T, Nishihara T, et al. Origin of osteoclasts: Mature monocytes and macrophages are capable of differentiating into osteoclasts under a suitable microenvironment prepared by bone marrow-derived stromal cells. Proc Natl Acad Sci U S A 1990, 87: 7260\u20137264.","journal-title":"Proc Natl Acad Sci U S A"},{"key":"980_CR154","doi-asserted-by":"publisher","first-page":"103","DOI":"10.1016\/j.yexcr.2004.12.006","volume":"306","author":"J Kos","year":"2005","unstructured":"Kos J, Sekirnik A, Premzl A, Zava\u0161nik Bergant V, Langerholc T, Repnik U, et al. Carboxypeptidases cathepsins X and B display distinct protein profile in human cells and tissues. Exp Cell Res 2005, 306: 103\u2013113.","journal-title":"Exp Cell Res"},{"key":"980_CR155","doi-asserted-by":"publisher","first-page":"1452","DOI":"10.3324\/haematol.2009.018671","volume":"95","author":"ND Staudt","year":"2010","unstructured":"Staudt ND, Aicher WK, Kalbacher H, Stevanovic S, Carmona AK, Bogyo M, et al. Cathepsin X is secreted by human osteoblasts, digests CXCL-12 and impairs adhesion of hematopoietic stem and progenitor cells to osteoblasts. Haematologica 2010, 95: 1452\u20131460.","journal-title":"Haematologica"},{"key":"980_CR156","first-page":"349","volume-title":"An update on primary familial brain calcification. International Review of Neurobiology","author":"RR Lemos","year":"2013","unstructured":"Lemos RR, Ferreira JBMM, Keasey MP, Oliveira JRM (2013) An update on primary familial brain calcification. International Review of Neurobiology, Elsevier, Amsterdam, pp 349\u2013371."},{"key":"980_CR157","doi-asserted-by":"publisher","first-page":"67","DOI":"10.1186\/s12888-019-2047-1","volume":"19","author":"B Plemeniti Tololeski","year":"2019","unstructured":"Plemeniti Tololeski B, Debeljak M, Perkovi\u010d Benedik M, Rigler T, Kyriakopoulos M, Kotnik P, et al. The use of quetiapine in treatment of acute psychotic symptoms in an adolescent patient with primary brain calcification: A case report. BMC Psychiatry 2019, 19: 67.","journal-title":"BMC Psychiatry"},{"key":"980_CR158","first-page":"89","volume":"6","author":"A R\u00e4kel","year":"2011","unstructured":"R\u00e4kel A, Boucher A, Ste-Marie LG. Role of zoledronic acid in the prevention and treatment of osteoporosis. Clin Interv Aging 2011, 6: 89\u201399.","journal-title":"Clin Interv Aging"},{"key":"980_CR159","doi-asserted-by":"publisher","first-page":"345","DOI":"10.1002\/mds.870130225","volume":"13","author":"JA Loeb","year":"1998","unstructured":"Loeb JA. Functional improvement in a patient with cerebral calcinosis using a bisphosphonate. Mov Disord 1998, 13: 345\u2013349.","journal-title":"Mov Disord"},{"key":"980_CR160","doi-asserted-by":"publisher","first-page":"77","DOI":"10.1016\/j.jns.2005.11.033","volume":"243","author":"JA Loeb","year":"2006","unstructured":"Loeb JA, Sohrab SA, Huq M, Fuerst DR. Brain calcifications induce neurological dysfunction that can be reversed by a bone drug. J Neurol Sci 2006, 243: 77\u201381.","journal-title":"J Neurol Sci"},{"key":"980_CR161","doi-asserted-by":"publisher","first-page":"22961","DOI":"10.1038\/srep22961","volume":"6","author":"JR Oliveira","year":"2016","unstructured":"Oliveira JR, Oliveira MF. Primary brain calcification in patients undergoing treatment with the biphosphanate alendronate. Sci Rep 2016, 6: 22961.","journal-title":"Sci Rep"},{"key":"980_CR162","doi-asserted-by":"publisher","first-page":"748","DOI":"10.1007\/s12031-014-0357-9","volume":"54","author":"JB Ferreira","year":"2014","unstructured":"Ferreira JB, Pimentel L, Keasey MP, Lemos RR, Santos LM, Oliveira MF, et al. First report of a de novo mutation at SLC20A2 in a patient with brain calcification. J Mol Neurosci 2014, 54: 748\u2013751.","journal-title":"J Mol Neurosci"},{"key":"980_CR163","doi-asserted-by":"publisher","first-page":"717","DOI":"10.1097\/01.wnr.0000215770.79281.e4","volume":"17","author":"A Kalueff","year":"2006","unstructured":"Kalueff A, Loseva E, Haapasalo H, Rantala I, Keranen J, Lou YR, et al. Thalamic calcification in vitamin D receptor knockout mice. Neuroreport 2006, 17: 717\u2013721.","journal-title":"Neuroreport"},{"key":"980_CR164","doi-asserted-by":"publisher","first-page":"25802","DOI":"10.1038\/srep25802","volume":"6","author":"MP Keasey","year":"2016","unstructured":"Keasey MP, Lemos RR, Hagg T, Oliveira JRM. Vitamin-D receptor agonist calcitriol reduces calcification in vitro through selective upregulation of SLC20A2 but not SLC20A1 or XPR1. Sci Rep 2016, 6: 25802.","journal-title":"Sci Rep"},{"key":"980_CR165","doi-asserted-by":"publisher","first-page":"407","DOI":"10.1146\/annurev-med-120611-144851","volume":"64","author":"SW Peltz","year":"2013","unstructured":"Peltz SW, Morsy M, Welch EM, Jacobson A. Ataluren as an agent for therapeutic nonsense suppression. Annu Rev Med 2013, 64: 407\u2013425.","journal-title":"Annu Rev Med"},{"key":"980_CR166","doi-asserted-by":"publisher","first-page":"449","DOI":"10.1212\/CPJ.0000000000000782","volume":"10","author":"MEM Peters","year":"2020","unstructured":"Peters MEM, de Brouwer EJM, Bartstra JW, Mali W, Koek HL, Rozemuller AJM, et al. Mechanisms of calcification in Fahr disease and exposure of potential therapeutic targets. Neurol Clin Pract 2020, 10: 449\u2013457.","journal-title":"Neurol Clin Pract"},{"key":"980_CR167","doi-asserted-by":"publisher","first-page":"571","DOI":"10.1097\/WCO.0000000000000712","volume":"32","author":"A Westenberger","year":"2019","unstructured":"Westenberger A, Balck A, Klein C. Primary familial brain calcifications: Genetic and clinical update. Curr Opin Neurol 2019, 32: 571\u2013578.","journal-title":"Curr Opin Neurol"}],"container-title":["Neuroscience Bulletin"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s12264-022-00980-0.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s12264-022-00980-0\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s12264-022-00980-0.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,12,2]],"date-time":"2023-12-02T12:58:33Z","timestamp":1701521913000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s12264-022-00980-0"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,12,5]]},"references-count":167,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2023,4]]}},"alternative-id":["980"],"URL":"https:\/\/doi.org\/10.1007\/s12264-022-00980-0","relation":{},"ISSN":["1673-7067","1995-8218"],"issn-type":[{"value":"1673-7067","type":"print"},{"value":"1995-8218","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,12,5]]},"assertion":[{"value":"21 May 2022","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"10 July 2022","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"5 December 2022","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"The authors declare that they have no conflict of interest.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}}]}}