Patients with Huntington’s disease carrying the FAN1 R507H mutation have earlier than predicted onset of motoric symptoms. This study provides mechanistic insight into the interactions that may promote CAG repeat expansion. FAN1 R507 interacts with PCNA D232 and this interaction is impaired for FAN1 R507H, resulting in reduced FAN1 activity.
- Jonas Aretz
- Gayathri Jeyasankar
- Brinda C. Prasad
