Article
Functional Characterization of Germline Mutations in PDGFB and PDGFRB in Primary Familial Brain Calcification.
PloS one - 1 Jan 2015
Vanlandewijck Michael, Lebouvier Thibaud, Andaloussi Mäe Maarja, Nahar Khayrun, Hornemann Simone, Kenkel David, Cunha Sara I, Lennartsson Johan, Boss Andreas, Heldin Carl-Henrik, Keller Annika, Betsholtz Christer
Abstract excerpt
Primary Familial Brain Calcification (PFBC), a neurodegenerative disease characterized by progressive pericapillary calcifications, has recently been linked to heterozygous mutations in PDGFB and PDGFRB genes. Here, we functionally analyzed several of these mutations in vitro. All six analyzed PDGFB mutations led to complete loss of PDGF-B function either through abolished protein synthesis or through defective...
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