首页 正文

Pml loss worsens NEK1-linked ALS and Pml induction drives NEK1 degradation, precluding disease onset

{{output}}
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 ... ...