Article
Kidney Disease-Associated APOL1 Variants Have Dose-Dependent, Dominant Toxic Gain-of-Function.
Journal of the American Society of Nephrology : JASN - 1 Sept 2020
Datta Somenath, Kataria Rama, Zhang Jia-Yue, Moore Savannah, Petitpas Kaitlyn, Mohamed Adam, Zahler Nathan, Pollak Martin R, Olabisi Opeyemi A
Abstract excerpt
BACKGROUND: Two coding renal risk variants (RRVs) of the APOL1 gene (G1 and G2) are associated with large increases in CKD rates among populations of recent African descent, but the underlying molecular mechanisms are unknown. Mammalian cell culture models are widely used to study cytotoxicity of RRVs, but results have been contradictory. It remains unclear whether cytotoxicity is RRV-dependent or driven solely...
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