Publication: Inorganic phosphate exporter heterozygosity in mice leads to brain vascular calcification, microangiopathy, and microgliosis
Inorganic phosphate exporter heterozygosity in mice leads to brain vascular calcification, microangiopathy, and microgliosis
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Maheshwari, U., Mateos, J. M., Weber-Stadlbauer, U., Ni, R., Tamatey, V., Sridhar, S., Restrepo, A., de Jong, P. A., Huang, S.-F., Schaffenrath, J., Stifter, S. A., Szeri, F., Greter, M., Koek, H. L., & Keller, A. (2023). Inorganic phosphate exporter heterozygosity in mice leads to brain vascular calcification, microangiopathy, and microgliosis. Brain Pathology, 33(6), e13189. https://doi.org/10.1111/bpa.13189
Abstract
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Abstract
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), platelet-derived growth factor receptor beta (PDGFRB), myogenesis regulating glycosidase (MYORG), and junctional adhesion molecule 2 (JAM2)
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Maheshwari, U., Mateos, J. M., Weber-Stadlbauer, U., Ni, R., Tamatey, V., Sridhar, S., Restrepo, A., de Jong, P. A., Huang, S.-F., Schaffenrath, J., Stifter, S. A., Szeri, F., Greter, M., Koek, H. L., & Keller, A. (2023). Inorganic phosphate exporter heterozygosity in mice leads to brain vascular calcification, microangiopathy, and microgliosis. Brain Pathology, 33(6), e13189. https://doi.org/10.1111/bpa.13189