Article

ALS-linked KIF5A ΔExon27 mutant causes neuronal toxicity through gain of function

2022-03-07

Abstract excerpt

Mutations in the human kinesin family member 5A ( KIF5A ) gene were recently identified as a genetic cause of amyotrophic lateral sclerosis (ALS). Several KIF5A ALS variants cause exon 27 skipping and produce motor proteins with an altered C-terminal tail (referred to as ΔExon27). However, the underlying pathogenic mechanism is still unknown. In this study, we performed a comprehensive analysis of ΔExon27 at the...

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Literature Corpus work: 494b4977-5553-582f-9bf1-39e5e7c25862
DOI: 10.1101/2022.03.05.483071

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