Spastin accumulation and motor neuron defects caused by a novel SPAST splice site mutation
The adverse effects of premature stop codon mutations in SPAST result in insufficient levels of functional protein, and the potential toxicity arising from the intracellular accumulation of spastin serves as a contributing factor to HSP-SPAST.
Authors
- Jinxiu Liang (ORCID: https://orcid.org/0000-0001-6302-0912)
- Min Luo (ORCID: https://orcid.org/0000-0003-2030-4282)
- Xinhua Wan
- Yanying Wang
Institutions
- Chinese Academy of Medical Sciences & Peking Union Medical College (CN)
- Peking Union Medical College Hospital (CN)
- Zhejiang Hospital (CN)
- Second Affiliated Hospital of Zhejiang University (CN)
- Zhejiang University (CN)
Publication Details
- Journal
- Journal of Translational Medicine
- Published
- 2024-09-27
- DOI
- https://doi.org/10.1186/s12967-024-05669-8
- Citations
- 1
- Primary Topic
- Hereditary Neurological Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.27
Funders
- Chinese Academy of Medical Sciences
- Peking Union Medical College Hospital