Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice
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...This is suggestive of a role for BBB dysfunction in PFBC, possibly involving changes in phosphate transport, since mutations in the phosphate transporters SLC20A2 and XPR1 also cause PFBC (Legati et al., 2015; Wang et al., 2012a)....
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...Primary familial brain calcification (PFBC, a.k.a., idiopathic basal ganglia calcification [IBGC] or Fahr’s disease) is characterized by early-onset microvascular calcification occurring in certain deep brain regions, most notably the basal ganglia....
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...In different mouse models based on mutations in Pdgfb that led to variable levels of defect in PDGF-B/PDGFRb signaling, a correlation was noted among the extent of pericyte loss, BBB deficiency, and brain calcification (Keller et al., 2013)....
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...The recent description of loss-of-function mutations in PDGFB and PDGFRB genes in PFBC (Keller et al., 2013; Nicolas et al., 2013) suggests a role for pericytes in this disease....
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...Similarly, Pdgfbret/ret mice with severe pericyte loss and BBB breakdown develop deep brain calcification (Keller et al., 2013), whereas Pdgfrβ+/− and PdgfrβF7/F7 pericyte-deficient mice develop BBB breakdown, leading to secondary neurodegeneration (Bell et al., 2010)....
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...Similarly, Pdgfb mice with severe pericyte loss and BBB breakdown develop deep brain calcification (Keller et al., 2013), whereas Pdgfrβ+/− and Pdgfrβ pericyte-deficient mice develop BBB breakdown, leading to secondary neurodegeneration (Bell et al....
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...Loss of pericytes in mice with diminished PDGF-BB bioavailability also leads to an early BBB breakdown (Armulik et al., 2010) and calcium deposition in the basal ganglia detectable at 1 yr of age (Keller et al., 2013; Vanlandewijck et al., 2015)....
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...Loss-of-function mutations in the PDG FRB gene in pericytes lead to idiopathic primary familial brain calcification and motor and cognitive impairment (Keller et al., 2013; Nicolas et al., 2013)....
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..., 2010) and calcium deposition in the basal ganglia detectable at 1 yr of age (Keller et al., 2013; Vanlandewijck et al., 2015)....
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