Molecular analysis of physiological and BPAN-related WIPI4 functions (F10 (E03))

WDR45是一种编码WIPI4的基因，它的突变导致了β-螺旋桨相关神经变性(BPAN)，这是一种由大脑中高度铁积累引起的人类疾病。这个项目建立在最初的观察基础上，即WIPI4参与了溶酶体铁蛋白的降解，包括选择性吞铁蛋白。为了破译突变体WIPI4在BPAN中的作用，该项目将定义WIPI4在铁噬菌体和其他类型溶酶体铁蛋白降解中的分子功能。

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.