Article
The role of alpha-actinin-4 in human kidney disease
18 Aug 2015
Abstract excerpt
Mutations in the Alpha-actinin-4 gene (ACTN4) cause a rare form of familial focal segmental glomerulosclerosis in humans. Individuals with kidney disease-associated ACTN4 mutations tend to have mild to moderate proteinuria, with many developing decreased kidney function progressing to end stage kidney disease. All of the disease-causing ACTN4 mutations identified to date are located within the actin-binding...
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