Associated Papers
Synergistic activation of the human phosphate exporter XPR1 by KIDINS220 and inositol pyrophosphate.
Zuo P et al.
Nature Communications, 2025
40128258 (PubMed )
Supplement: 41467_2025_58200_MOESM1_ESM.pdf
Spectrum of SLC20A2, PDGFRB, PDGFB, and XPR1 mutations in a large cohort of patients with primary familial brain calcification.
Guo XX et al.
Human Mutation, 2019
Pericytes in Primary Familial Brain Calcification.
Zarb Y et al.
Advances in Experimental Medicine and Biology, 2019
Primary brain calcification: an international study reporting novel variants and associated phenotypes.
Ramos EM et al.
European Journal of Human Genetics : Ejhg, 2018
Analysis of gene expression and functional characterization of XPR1: a pathogenic gene for primary familial brain calcification.
Yao XP et al.
Cell and Tissue Research, 2017
XPR1 mutations are a rare cause of primary familial brain calcification.
Anheim M et al.
Journal of Neurology, 2016
XPR1: a Gene Linked to Primary Familial Brain Calcification Might Help Explain a Spectrum of Neuropsychiatric Disorders.
Moura DA et al.
Journal of Molecular Neuroscience : Mn, 2015
A new gene for primary familial brain calcification: The importance of phosphate homeostasis.
Westenberger A et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2015
Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export.
Legati A et al.
Nature Genetics, 2015
XPR1 Mutations: Another Cause of Primary Familial Brain Calcification.
Erro R et al.
Movement Disorders Clinical Practice, 0
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