DFG SFB 1177

Molecular and Functional Characterization of Selective Autophagy "Molecular function of WDR45/WIPI4 in ferritinophagy and neurodegeneration"

01/01/2020 to 31/12/2023

De novo mutations in the WDR45/WIPI4 gene are causative for the human neurodegenerative disease BPAN (Beta-Propeller Associated Neurodegeneration), characterized by high iron accumulations in the brain. Normally, intracellular iron, stored as ferritin, is selectively degraded through ferritinophagy. In this project we will address the function of WDR45/WIPI4 in the process of ferritinophagy in both healthy and disease-associated (BPAN) conditions, using control- and patient-derived fibroblasts and thereupon derived iPS cells and in vitro differentiated neurons.