Article
Recessive, gain-of-function toxicity in an APOL1 BAC transgenic mouse model mirrors human APOL1 kidney disease.
Disease models & mechanisms - 1 Aug 2021
McCarthy Gizelle M, Blasio Angelo, Donovan Olivia G, Schaller Lena B, Bock-Hughes Althea, Magraner Jose M, Suh Jung Hee, Tattersfield Calum F, Stillman Isaac E, Shah Shrijal S, Zsengeller Zsuzsanna K, Subramanian Balajikarthick, Friedman David J, Pollak Martin R
Abstract excerpt
People of recent sub-Saharan African ancestry develop kidney failure much more frequently than other groups. A large fraction of this disparity is due to two coding sequence variants in the APOL1 gene. Inheriting two copies of these APOL1 risk variants, known as G1 and G2, causes high rates of focal segmental glomerulosclerosis (FSGS), HIV-associated nephropathy and hypertension-associated end-stage kidney...
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