Identification of a Novel CLPX Variant in a Mixed-Breed Dog with Anemia and Spinocerebellar Ataxia
This is the first report associating a <i>CLPX</i> variant with SCA in any species. Given the gene's high evolutionary conservation and known role in mitochondrial protein homeostasis, this finding may have implications for understanding CLPX-related neurodegeneration and anemia in both veterinary and human medicine.
Authors
- Andrea N. Johnston (ORCID: https://orcid.org/0000-0003-1082-1155)
- Bianca Santana de Cecco (ORCID: https://orcid.org/0000-0003-4827-4011)
- Jeong-Ha Lee (ORCID: https://orcid.org/0000-0003-0202-7664)
- Namju J. Kim (ORCID: https://orcid.org/0009-0006-5028-3549)
- Madeline C. Coffey
- Andrew D. Miller (ORCID: https://orcid.org/0000-0001-6350-5581)
- Jeanna M. Blake (ORCID: https://orcid.org/0000-0002-7296-7857)
- Kari J. Ekenstedt (ORCID: https://orcid.org/0000-0002-3213-7883)
Institutions
- Louisiana State University (US)
- Cornell University (US)
- Purdue University West Lafayette (US)
- New York State College of Veterinary Medicine (US)
Publication Details
- Journal
- Genes
- Published
- 2025-11-10
- DOI
- https://doi.org/10.3390/genes16111359
- Primary Topic
- Neurological diseases and metabolism
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- U.S. Department of Agriculture
- Sanofi