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Article

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

EMBO reports - 3 Aug 2022

Pant Devesh C, Parameswaran Janani, Rao Lu, Loss Isabel, Chilukuri Ganesh, Parlato Rosanna, Shi Liang, Glass Jonathan D, Bassell Gary J, Koch Philipp, Yilmaz Rüstem, Weishaupt Jochen H, Gennerich Arne, Jiang Jie

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 are predicted to produce motor proteins with an altered C-terminal tail (referred to as ΔExon27). However, the underlying pathogenic mechanism is still unknown. Here, we confirm the expression of KIF5A mutant proteins...

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Identifiers

PMID: 35735139
DOI: 10.15252/embr.202154234
PMCID: PMC9346498

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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