Dysfunction of ATP7B Splicing Variant Caused by Enhanced Interaction With COMMD1 in Wilson DiseaseSummary

Dysfunction of ATP7B Splicing Variant Caused by Enhanced Interaction With COMMD1 in Wilson DiseaseSummary

Background & Aims: The association between Wilson disease and various ATP7B mutations is well-established; however, the molecular mechanism underlying the functional consequence of these mutations, particularly the splicing mutations, remains unclear. This study focused on the ATP7B c.1543+1...

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Main Authors: Donghu Zhou, Huaduan Zi, Xiaoxi Yang, Xiaojin Li, Yanmeng Li, Anjian Xu, Bei Zhang, Wei Zhang, Xiaojuan Ou, Jidong Jia, Jian Huang, Hong You
Format: Article
Language:English
Published: Elsevier 2025-01-01
Series:Cellular and Molecular Gastroenterology and Hepatology
Subjects:
ATP7B
Cellular Localization
COMMD1
Protein Stability
Splicing Mutation
Wilson Disease
Online Access:http://www.sciencedirect.com/science/article/pii/S2352345X24001735
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