Article
Apolipoprotein L1 (APOL1) renal risk variant-mediated podocyte cytotoxicity depends on African haplotype and surface expression.
Scientific reports - 14 Feb 2024
Gupta Nidhi, Waas Bridget, Austin Daniel, De Mazière Ann M, Kujala Pekka, Stockwell Amy D, Li Tianbo, Yaspan Brian L, Klumperman Judith, Scales Suzie J
Abstract excerpt
Homozygous Apolipoprotein L1 (APOL1) variants G1 and G2 cause APOL1-mediated kidney disease, purportedly acting as surface cation channels in podocytes. APOL1-G0 exhibits various single nucleotide polymorphisms, most commonly haplotype E150K, M228I and R255K ("KIK"; the Reference Sequence is "EMR"), whereas variants G1 and G2 are mostly found in a single "African" haplotype background ("EIK"). Several labs...
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