Molecular analysis of physiological and BPAN-related WIPI4 functions

Mutations in WDR45, the gene encoding WIPI4 are causative for beta-propeller associated neurodegeneration (BPAN), a human disorder resulting from high iron accumulation in the brain. This project builds on the original observation that WIPI4 is involved in lysosomal ferritin degradation, including selective ferritinophagy. To decipher the role of mutant WIPI4 in BPAN, this project will define the molecular function of WIPI4 in ferritinophagy and other types lysosomal ferritin degradation.

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