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Article

Loss of function of the ALS-associated NEK1 kinase disrupts microtubule homeostasis and nuclear import

16 Aug 2023

Abstract excerpt

Loss-of-function variants in NIMA-related kinase 1 (NEK1) constitute a major genetic cause of amyotrophic lateral sclerosis (ALS), accounting for 2 to 3% of all cases. However, how NEK1 mutations cause motor neuron (MN) dysfunction is unknown. Using mass spectrometry analyses for NEK1 interactors and NEK1-dependent expression changes, we find functional enrichment for proteins involved in the microtubule...

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PMID: 37585529
DOI: 10.1126/sciadv.adi5548

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