Mutations in NEK1 cause ciliary dysfunction as a novel pathogenic mechanism in amyotrophic lateral sclerosis
Our results suggest that NEK1 contributes to ALS pathogenesis through the LOF mechanism, and HDAC6 inhibition provides an attractive therapeutic strategy for NEK1 variants associated ALS treatment.
Authors
- Ji Young Mun (ORCID: https://orcid.org/0000-0003-0820-6233)
- Minyeop Nahm (ORCID: https://orcid.org/0000-0003-2195-4084)
- Min‐Young Noh (ORCID: https://orcid.org/0000-0002-2746-0686)
- Ki‐Wook Oh (ORCID: https://orcid.org/0000-0001-6011-629X)
- Sun Hyung Joo (ORCID: https://orcid.org/0000-0002-5263-4617)
- Wonjae Sung (ORCID: https://orcid.org/0000-0002-4637-5890)
- Seong‐il Oh (ORCID: https://orcid.org/0000-0002-8067-2135)
- Yurim Park (ORCID: https://orcid.org/0000-0001-8684-5298)
- Chang‐Seok Ki (ORCID: https://orcid.org/0000-0001-7679-8731)
- Seung Hyun Kim (ORCID: https://orcid.org/0000-0001-9644-9598)
- Young-Eun Kim (ORCID: https://orcid.org/0000-0002-4082-7630)
Institutions
- Green Cross (South Korea) (KR)
- Kyungpook National University (KR)
- Kyung Hee University Medical Center (KR)
- Hanyang University Seoul Hospital (KR)
- Korea Brain Research Institute (KR)
- Hanyang University (KR)
- Anyang University (KR)
Publication Details
- Journal
- Molecular Neurodegeneration
- Published
- 2025-05-20
- DOI
- https://doi.org/10.1186/s13024-025-00848-7
- Citations
- 9
- Primary Topic
- Amyotrophic Lateral Sclerosis Research
- Type
- article
- Field-Weighted Citation Impact
- 12.50
Funders
- Ministry of Science and ICT, South Korea