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Article

Clinicopathological analysis of NEK1 variants in amyotrophic lateral sclerosis.

Brain pathology (Zurich, Switzerland) - 1 Jan 2025

Rifai Olivia M, Waldron Fergal M, Sleibi Danah, O'Shaughnessy Judi, Leighton Danielle J, Gregory Jenna M

Abstract excerpt

Many genes have been linked to amyotrophic lateral sclerosis (ALS), including never in mitosis A (NIMA)-related kinase 1 (NEK1), a serine/threonine kinase that plays a key role in several cellular functions, such as DNA damage response and cell cycle regulation. Whole-exome sequencing studies have shown that NEK1 mutations are associated with an increased risk for ALS, where a significant enrichment of NEK1...

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PMID: 38986433
DOI: 10.1111/bpa.13287
PMCID: PMC11669413

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