Article

<i>Pml</i> loss worsens NEK1-linked ALS and <i>Pml</i> induction drives NEK1 degradation, precluding disease onset

2024-11-23

Abstract excerpt

<h4>ABSTRACT</h4> 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 (Nek1 t ) is aggregation-prone, particularly in alpha-motoneurons (αMNs), and drives canonical ALS symptoms when bi-allelically expresse...

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Literature Corpus work: 083e5924-d30c-5d9e-8a21-567efeedc64c
DOI: 10.1101/2024.11.23.622051

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