Article
Alpha-actinin-4-mediated FSGS: an inherited kidney disease caused by an aggregated and rapidly degraded cytoskeletal protein.
PLoS biology - 1 Jun 2004
Yao June, Le Tu Cam, Kos Claudine H, Henderson Joel M, Allen Phillip G, Denker Bradley M, Pollak Martin R
Abstract excerpt
Focal segmental glomerulosclerosis (FSGS) is a common pattern of renal injury, seen as both a primary disorder and as a consequence of underlying insults such as diabetes, HIV infection, and hypertension. Point mutations in the alpha-actinin-4 gene ACTN4 cause an autosomal dominant form of human FSGS. We characterized the biological effect of these mutations by biochemical assays, cell-based studies, and the...
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