A Novel Missense Variant in <scp>SORBS2</scp> Is Causative With Familial Alzheimer's Disease
Our study suggest that the SORBS2 T189M variant is a novel candidate causal mutation associated with familial AD in a Chinese pedigree, contributing to AD pathogenesis by promoting neuroinflammation and neuronal injury. Notably, this study is the first to establish a link between SORBS2 mutations and AD.
Authors
- Yiping Wei (ORCID: https://orcid.org/0000-0002-5087-7113)
- Qigeng Wang
- Shiyuan Wang (ORCID: https://orcid.org/0000-0001-8586-9300)
- Shuman Cao (ORCID: https://orcid.org/0000-0002-5743-6847)
- Meina Quan (ORCID: https://orcid.org/0000-0002-6143-0798)
- Yan Wang (ORCID: https://orcid.org/0000-0002-3750-0311)
- Yan Li (ORCID: https://orcid.org/0000-0003-0096-0813)
- Ying Li (ORCID: https://orcid.org/0000-0002-7595-2212)
- Qi Wang (ORCID: https://orcid.org/0000-0003-3607-1612)
- Wei Qin
- Jianping Jia (ORCID: https://orcid.org/0000-0002-1829-7776)
Institutions
- Ministry of Education of the People's Republic of China (CN)
- Capital Medical University (CN)
- Beijing Geriatric Hospital (CN)
- National Clinical Research Center for Digestive Diseases (CN)
- Chinese Institute for Brain Research (CN)
Publication Details
- Journal
- CNS Neuroscience & Therapeutics
- Published
- 2025-02-01
- DOI
- https://doi.org/10.1111/cns.70256
- Citations
- 1
- Primary Topic
- Alzheimer's disease research and treatments
- Type
- article
- Field-Weighted Citation Impact
- 1.16