Clinical and functional characterization of a novel STUB1 mutation in a Chinese spinocerebellar ataxia 48 pedigree
We diagnose the SCA48 pedigree in China and highlight the role of decreased ubiquitination and increased tau aggregation in the pathogenesis of the novel STUB1 c.755C>A mutation.
Authors
- Chang-Yun Liu (ORCID: https://orcid.org/0000-0002-6765-3298)
- Yali Huang (ORCID: https://orcid.org/0000-0001-8263-6368)
- Zhang‐Yu Zou
- Sheng Chen (ORCID: https://orcid.org/0000-0002-7934-015X)
- Jiaqi Li (ORCID: https://orcid.org/0009-0005-4613-5116)
- Jian-Min Chen (ORCID: https://orcid.org/0000-0003-4530-1256)
- Wenyi Xie
- Ying‐Qian Lu
- Chun-Zuan Xu
Institutions
- Fujian Medical University (CN)
- Union Hospital (CN)
Publication Details
- Journal
- Orphanet Journal of Rare Diseases
- Published
- 2024-12-20
- DOI
- https://doi.org/10.1186/s13023-024-03456-8
- Citations
- 1
- Primary Topic
- Genetic Neurodegenerative Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.27
Funders
- National Natural Science Foundation of China
- Natural Science Foundation of Fujian Province