Novel POLE mutations identified in patients with IMAGE-I syndrome cause aberrant subcellular localisation and protein degradation in the nucleus

Conclusion
These findings provide new insights regarding the mechanism via which POLE mutants are highly susceptible to proteasome-dependent degradation in the nucleus, resulting in impaired DNA replication and cell cycle progression, a characteristic of DNA replisome-associated diseases.

Source: Journal of Medical Genetics - October 21, 2022 Category: Genetics & Stem Cells Authors: Nakano, T., Sasahara, Y., Kikuchi, A., Moriya, K., Niizuma, H., Niihori, T., Shirota, M., Funayama, R., Nakayama, K., Aoki, Y., Kure, S. Tags: Open access Immunogenetics Source Type: research