Misfolded protein accumulation and neurodegeneration due to phospholipase gene mutations

2007 Pilot Project Read More


Principal Investigator: Paul Kotzbauer, MD, PhD (WUSTL Neurology)
Co-investigator: Joy Snider, MD, PhD (WUSTL Neurology)


Many neurodegenerative disorders are defined by accumulations of misfolded proteins in the brain. Mutations in the gene PLA2G6, which is involved in lipid metabolism, lead to neurodegenerative disorders and accumulation of alpha-synuclein — the same protein that accumulates in the brains of Parkinson’s Disease patients. This project will develop methods to detect misfolded protein accumulation in cultured neurons, and will generate a new animal model of alpha-synuclein overproduction. These new tools will enable the development of therapies to minimize toxicity and improve clearance of misfolded proteins.


Updated October 2012


Hope Center Investigators

Paul Kotzbauer

Joy Snider