The Human FSGS-Causing ANLN R431C Mutation Induces Dysregulated PI3K/AKT/mTOR/Rac1 Signaling in Podocytes.

ABSTRACT:

Background

We previously reported that mutations in the anillin (ANLN) gene cause familial forms of FSGS. ANLN is an F-actin binding protein that modulates podocyte cell motility and interacts with the phosphoinositide 3-kinase (PI3K) pathway through the slit diaphragm adaptor protein CD2-associated protein (CD2AP). However, it is unclear how the ANLN mutations cause the FSGS phenotype. We hypothesized that the R431C mutation exerts its pathogenic effects by uncoupling ANLN from CD2AP.

Methods

We conducted in vivo complementation assays in zebrafish to determine the effect of the previously identified missense ANLN variants, ANLN_R431C and ANLN_G618C during development. We also performed in vitro functional

SUBMITTER: Hall G 

PROVIDER: S-EPMC6065096 | biostudies-literature | 2018 Aug

REPOSITORIES: biostudies-literature