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- W618723130 abstract "Focal segmental glomerulosclerosis (FSGS) is a significant cause of human kidney disease. Mutations in the actin-crosslinking protein alpha-actinin-4 (ACTN4) constitute a rare cause of glomerular podocyte damage and consequent FSGS. To this end, we report here a novel ACTN4 mutation that occurs at the tyrosine phosphorylation site, Y265H. This mutation was identified in a sporadic FSGS patient through exome sequencing and validated through Sanger sequencing. Using purified protein, we found that compared to WT ACTN4, Y265H ACTN4 mutant protein increased binding affinity to F-actin. In immortalized human podocytes, transfection with mutant Y265H ACTN4 resulted in abnormal ACTN4 aggregation in the cytosol. These structural changes were associated with a two-fold enhancement in traction forces that the podocytes exerted on their underlying substrate measured by traction force microscopy. Taken together, we demonstrate that a point mutation at an ACTN4 phosphorylation site can lead to aberrant biochemical and biophysical changes in the podocyte. Moreover, the Y265H mutation could be a novel ACTN4 mutation leading to FSGS in humans." @default.
- W618723130 created "2016-06-24" @default.
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- W618723130 date "2015-04-01" @default.
- W618723130 modified "2023-09-27" @default.
- W618723130 title "Functional implications of a novel point‐mutation at an ACTN4 phosphorylation site" @default.
- W618723130 doi "https://doi.org/10.1096/fasebj.29.1_supplement.lb732" @default.
- W618723130 hasPublicationYear "2015" @default.
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