Dysfunction of ATP7B Splicing Variant Caused by Enhanced Interaction With COMMD1 in Wilson Disease
Our research investigated the pathogenicity and mechanism of ATP7B c.1543+1G>C variant, with particular focus on its enhanced interaction with COMMD1 as a potential universal mechanism contributing to the dysfunction of various ATP7B variants. These findings provide a foundation for the development of innovative therapeutic strategies that target abnormal splicing events in a range of hereditary diseases, including Wilson disease.
Authors
- Hong You (ORCID: https://orcid.org/0000-0002-8790-7793)
- Jidong Jia (ORCID: https://orcid.org/0000-0002-4673-8890)
- Jian Huang (ORCID: https://orcid.org/0000-0002-5218-9269)
- Anjian Xu (ORCID: https://orcid.org/0000-0003-4186-9485)
- Xiaoxi Yang (ORCID: https://orcid.org/0000-0002-4721-575X)
- Huaduan Zi (ORCID: https://orcid.org/0000-0003-3365-9592)
- Donghu Zhou
- Bei Zhang (ORCID: https://orcid.org/0000-0002-7797-7616)
- Xiaojin Li (ORCID: https://orcid.org/0000-0002-9603-8489)
- Yanmeng Li (ORCID: https://orcid.org/0000-0003-3151-7099)
- Wei Zhang (ORCID: https://orcid.org/0000-0001-9508-3010)
- Xiaojuan Ou (ORCID: https://orcid.org/0009-0002-4662-4970)
Institutions
- National Clinical Research Center for Digestive Diseases (CN)
- Beijing Friendship Hospital (CN)
Publication Details
- Journal
- Cellular and Molecular Gastroenterology and Hepatology
- Published
- 2024-10-09
- DOI
- https://doi.org/10.1016/j.jcmgh.2024.101418
- Citations
- 5
- Primary Topic
- Trace Elements in Health
- Type
- article
- Field-Weighted Citation Impact
- 1.55
Funders
- National Natural Science Foundation of China
- Natural Science Foundation of Beijing Municipality
- Beijing Municipal Administration of Hospitals