Abstract
We previously reported that mutations in ANLN cause familial focal segmental glomerulosclerosis (FSGS). Anillin is an F-actin binding protein that modulates cell motility and interacts with the phosphoinositide 3-kinase (PI-3K) pathway through the slit diaphragm adaptor protein CD2A-associated Protein (CD2AP). It is unclear how ANLNR431C causes FSGS phenotype. We hypothesized that the mutation exerts its pathogenic effects by uncoupling ANLN from CD2AP and inducing aberrant PI3K/AKT/mTOR signaling.
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