Article
APOL1 Kidney Risk Variants Induce Cell Death via Mitochondrial Translocation and Opening of the Mitochondrial Permeability Transition Pore.
Journal of the American Society of Nephrology : JASN - 1 Dec 2019
Shah Shrijal S, Lannon Herbert, Dias Leny, Zhang Jia-Yue, Alper Seth L, Pollak Martin R, Friedman David J
Abstract excerpt
BACKGROUND: Genetic Variants in Apolipoprotein L1 (APOL1) are associated with large increases in CKD rates among African Americans. Experiments in cell and mouse models suggest that these risk-related polymorphisms are toxic gain-of-function variants that cause kidney dysfunction, following a recessive mode of inheritance. Recent data in trypanosomes and in human cells indicate that such variants may cause...
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