Consequences of the Novel ALS-Associated <i>KIF5A</i> Variant c.2993-6C > A for Exon 27 Splicing and Axonal Transport of SFPQ
<i>KIF5A</i> intronic variant c.2993-6C > A could be a risk factor for ALS. KIF5A ΔExon27 impairs KIF5A-mediated cargo transport and contributes to ALS pathogenesis in a TDP-43-dependent manner.
Authors
- GA Rouleau
- Marvin Chum (ORCID: https://orcid.org/0000-0002-2252-0846)
- Jay P. Ross (ORCID: https://orcid.org/0000-0002-8183-2524)
- Daniel Rochefort
- Boting Li (ORCID: https://orcid.org/0009-0002-3323-5781)
- Kate Bornais (ORCID: https://orcid.org/0009-0000-6095-5413)
- Sali M.K. Farhan
- Patrick A. Dion
- Ziqi Yu
Institutions
- Montreal Neurological Institute and Hospital (CA)
- McGill University Health Centre (CA)
- McGill Genome Centre (CA)
- McGill University (CA)
- McMaster University (CA)
Publication Details
- Journal
- Neurology Genetics
- Published
- 2026-03-11
- DOI
- https://doi.org/10.1212/nxg.0000000000200362
- Primary Topic
- Amyotrophic Lateral Sclerosis Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- ALS Society of Canada
- Fondation Brain Canada
- Canadian Institutes of Health Research