PSAP and Parkinson disease: This study reveals that these variants lead to abnormal accumulation of autophagic vesicles, impaired autophagic flux, aggregation of α-Syn, and retention of PSAP in the endoplasmic reticulum, which, in turn, caused decreased motor function and degeneration of dopaminergic neurons in a mouse model, thus providing new genetic and pathological evidence for the pathogenesis of PD [112].