Figure 2.

Cellular functions that are altered by mutations in WDR45 and WDR45 variant distribution in between diseases. (A) Effects of WDR45 mutations on cellular functions. At cellular level, WDR45 mutations cause autophagy impairment, alterations of ER morphology and quality control, perturbation of mitochondria morphology and function, and unbalances in iron homeostasis. These impairments result in protein aggregates accumulation, and enhanced oxidative, respiratory and ER stresses. (B) WDR45 variants found in BPAN, RLS, ID, EOEE, DEE and West syndrome patients, but also that have not been associated to a specific disease