Article
Pml loss worsens NEK1-linked ALS and Pml induction drives NEK1 degradation, precluding disease onset.
The FEBS journal - 1 Sept 2026
Georgiadou Panagiota, Erkaya Bahriye, Niwa-Kawakita Michiko, Oltan Merve, Keskin Yigit Kemal, Sahin Egemen, Öztürk Harun, Tiryaki Fatmanur, Yildiz Kutay, Özgenç Idil, Odabasi Ezgi, Pekbilir Emre, Dogan Sukru Anil, Lallemand-Breitenbach Valérie, Vargas Stephanie, Prochiantz Alain, Firat-Karalar Elif Nur, de Thé Hugues, Sahin Umut
Abstract excerpt
Germinal mono-allelic loss-of-function mutations of NEK1 drive amyotrophic lateral sclerosis (ALS) at variable penetrance, presumably through haploinsufficiency. Modeling the ALS-associated Arg812Ter mutation in mice revealed that the resulting truncated Nek1 (Nek1t) is aggregation-prone, particularly in alpha-motoneurons (αMNs), and drives canonical ALS symptoms when bi-allelically expressed (Nek1t/t)....
Read the complete abstract on PubMedTopics
- Animals
- NIMA-Related Kinase 1
- Humans
- Promyelocytic Leukemia Protein