Article
Identification of BRAF as a new interactor of PLCepsilon1, the protein mutated in nephrotic syndrome type 3.
American journal of physiology. Renal physiology - 1 Jan 2008
Chaib Hassan, Hoskins Bethan E, Ashraf Shazia, Goyal Meera, Wiggins Roger C, Hildebrandt Friedhelm
Abstract excerpt
Steroid-resistant nephrotic syndrome is a malfunction of the kidney glomerular filter that leads to proteinuria, hypoalbuminemia, edema, and renal failure. Recently, we identified recessive mutations in the phospholipase C epsilon 1 gene (PLCE1) as a new cause of early-onset nephrotic syndrome and demonstrated interaction of PLCepsilon1 with IQGAP1. To further elucidate the mechanism by which PLCE1 mutations...
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