Article
Transgenic expression of human APOL1 risk variants in podocytes induces kidney disease in mice.
Nature medicine - 1 Apr 2017
Beckerman Pazit, Bi-Karchin Jing, Park Ae Seo Deok, Qiu Chengxiang, Dummer Patrick D, Soomro Irfana, Boustany-Kari Carine M, Pullen Steven S, Miner Jeffrey H, Hu Chien-An A, Rohacs Tibor, Inoue Kazunori, Ishibe Shuta, Saleem Moin A, Palmer Matthew B, Cuervo Ana Maria, Kopp Jeffrey B, Susztak Katalin
Abstract excerpt
African Americans have a heightened risk of developing chronic and end-stage kidney disease, an association that is largely attributed to two common genetic variants, termed G1 and G2, in the APOL1 gene. Direct evidence demonstrating that these APOL1 risk alleles are pathogenic is still lacking because the APOL1 gene is present in only some primates and humans; thus it has been challenging to demonstrate...
Topics
- Albuminuria
- Alleles
- Animals
- Apolipoprotein L1
- Apolipoproteins
- Autophagy
- Azotemia
- Blotting, Western
- Endocytosis
- Endosomes