Article
Inorganic phosphate exporter heterozygosity in mice leads to brain vascular calcification, microangiopathy, and microgliosis.
Brain pathology (Zurich, Switzerland) - 1 Nov 2023
Maheshwari Upasana, Mateos José M, Weber-Stadlbauer Ulrike, Ni Ruiqing, Tamatey Virgil, Sridhar Sucheta, Restrepo Alejandro, de Jong Pim A, Huang Sheng-Fu, Schaffenrath Johanna, Stifter Sebastian A, Szeri Flora, Greter Melanie, Koek Huiberdina L, Keller Annika
Abstract excerpt
Calcification of the cerebral microvessels in the basal ganglia in the absence of systemic calcium and phosphate imbalance is a hallmark of primary familial brain calcification (PFBC), a rare neurodegenerative disorder. Mutation in genes encoding for sodium-dependent phosphate transporter 2 (SLC20A2), xenotropic and polytropic retrovirus receptor 1 (XPR1), platelet-derived growth factor B (PDGFB),...
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