Sat-099 Anillin (anln) Mutation Initiates Er-stress Mediated Apoptosis and Increase Susceptibility to Glomerular Injury in Mice
Year: 2019
Type: conference-abstract
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.
Source: Kidney International Reports
Authors: R. Gbadegesin, B. Lane, G. Hall, R. Spurney
Institutions: Duke University, Duke Medical Center
Language: English
Subfield: Nephrology
Field: Medicine
Domain: Health Sciences
Open Access status: gold
Estimated APC paid: $2,625
OpenAlex ID: W2955667025