α-Actinin-4-Mediated FSGS: An Inherited Kidney Disease Caused by an Aggregated and Rapidly Degraded Cytoskeletal Protein

@article{Yao2004Actinin4MediatedFA,
  title={α-Actinin-4-Mediated FSGS: An Inherited Kidney Disease Caused by an Aggregated and Rapidly Degraded Cytoskeletal Protein},
  author={June Yao and Tu C. Le and Claudine H. Kos and Joel M Henderson and Phillip G Allen and Bradley M Denker and Martin R. Pollak},
  journal={PLoS Biology},
  year={2004},
  volume={2},
  pages={1642 - 1644}
}
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 development of a new mouse model. We found that a fraction of the mutant protein forms… CONTINUE READING

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