Psmf1-KO Mouse

Psmf1, also known as PI31, encodes the proteasome regulator PSMF1/PI31, which is a highly conserved and ubiquitously expressed partner of the 20S proteasome, and is involved in pathways related to protein turnover and quality control. It has been implicated in various biological processes and diseases, with its regulation of proteasomal activity being of particular importance [2,3].

In Psmf1 conditional knockout mouse models, there is an age-dependent motor impairment and diffuse gliosis, indicating its role in motor function and neural health. In humans, biallelic Psmf1 missense and loss-of-function variants are associated with a phenotypic spectrum from early-onset Parkinson's disease and parkinsonism to perinatal lethality, and these variants can impair mitochondrial membrane potential, dynamics and mitophagy in patient-derived fibroblasts [1].

In conclusion, Psmf1 is crucial for regulating proteasomal activity and has a significant impact on mitochondrial function. Its study through gene knockout models, especially Psmf1 conditional knockout mouse models, has revealed its importance in neurodegenerative diseases like early-onset Parkinson's disease, highlighting its potential as a therapeutic target for such conditions.