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Article

The ALS-associated KIF5A P986L variant is not pathogenic for Drosophila motoneurons.

Scientific reports - 22 Aug 2024

Layalle Sophie, Aimond Franck, Brugioti Véronique, Guissart Claire, Raoul Cédric, Soustelle Laurent

Abstract excerpt

Amyotrophic lateral sclerosis (ALS) is a devastating paralytic disorder caused by the death of motoneurons. Several mutations in the KIF5A gene have been identified in patients with ALS. Some mutations affect the splicing sites of exon 27 leading to its deletion (Δ27 mutation). KIF5A Δ27 is aggregation-prone and pathogenic for motoneurons due to a toxic gain of function. Another mutation found to be enriched in...

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PMID: 39174694
DOI: 10.1038/s41598-024-70543-y
PMCID: PMC11341546

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