ArticleJournal of neurology2016
XPR1 mutations are a rare cause of primary familial brain calcification.
Article in Journal of neurology, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 42 papers, 1 of them a synthesis that pooled it.
What it found
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Who cites it
42 citing papers in PubMed, 1 synthesis or guideline pooled it, 75 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
- 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
- White Matter Matters: A Magnetic Resonance Imaging Study with Clinical Correlates in Primary Brain Calcification.Movement disorders : official journal of the Movement Disorder Society · 2026Article
- Structural insights into the gating mechanism of the fission yeast phosphate exporter SpXpr1.Cell discovery · 2026Article
- KIDINS220 and InsP8 safeguard the stepwise regulation of phosphate exporter XPR1.Molecular cell · 2025Article
- The identification of XPR1 as a voltage- and phosphate-activated phosphate-permeable ion channel.Nature communications · 2025Article
- Non-coding RNAs and regulation of the PI3K signaling pathway in lung cancer: Recent insights and potential clinical applications.Non-coding RNA research · 2025Review
- Structure and function of human XPR1 in phosphate export.Nature communications · 2025Article
- Synergistic activation of the human phosphate exporter XPR1 by KIDINS220 and inositol pyrophosphate.Nature communications · 2025Article
- Structural basis of phosphate export by human XPR1.Nature communications · 2025Article
- Structural insights into the mechanism of phosphate recognition and transport by XPR1.Nature communications · 2025Article
- Bilateral Cerebral Calcifications in Secondary Fahr's Syndrome.Case reports in neurological medicine · 2025Article
- Article
- Upstream open reading frame-introducing variants in patients with primary familial brain calcification.European journal of human genetics : EJHG · 2024Article
- Primary Familial Brain Calcification WithJournal of clinical neurology (Seoul, Korea) · 2024Article
- Pharmacology of Mammalian NaHandbook of experimental pharmacology · 2024Article
- Inorganic phosphate exporter heterozygosity in mice leads to brain vascular calcification, microangiopathy, and microgliosis.Brain pathology (Zurich, Switzerland) · 2023Article
- The Genetics of Primary Familial Brain Calcification: A Literature Review.International journal of molecular sciences · 2023Review
- Brain Calcifications: Genetic, Molecular, and Clinical Aspects.International journal of molecular sciences · 2023Review
Corrections and comments
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Authors and funding
14 authors at 8 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Mutations in XPR1, a gene encoding an inorganic phosphate exporter, have recently been identified in patients with primary familial brain calcification (PFBC). Using Sanger sequencing, we screened XPR1 in 18 unrelated patients with PFBC and no SLC20A2, PDGFB, or PDGFRB mutation. XPR1 variants were tested in an in vitro physiological complementation assay and patient blood cells were assessed ex vivo for phosphate export. We identified a novel c.260T > C, p.(Leu87Pro) XPR1 variant in a 41-year-old man complaining of micrographia and dysarthria and demonstrating mild parkinsonism, cerebellar ataxia and executive dysfunction. Brain (123)I-Ioflupane scintigraphy showed marked dopaminergic neuron loss. Peripheral blood cells from the patient exhibited decreased phosphate export. XPR1 in which we introduced the mutation was not detectable at the cell surface and did not lead to phosphate export. These results confirm that loss of XPR1-mediated phosphate export function causes PFBC, occurring in less than 8 % of cases negative for the other genes, and may be responsible for parkinsonism.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.