Article
Dysfunction of ATP7B Splicing Variant Caused by Enhanced Interaction With COMMD1 in Wilson Disease.
Cellular and molecular gastroenterology and hepatology - 1 Jan 2025
Zhou Donghu, Zi Huaduan, Yang Xiaoxi, Li Xiaojin, Li Yanmeng, Xu Anjian, Zhang Bei, Zhang Wei, Ou Xiaojuan, Jia Jidong, Huang Jian, You Hong
Abstract excerpt
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+1G>C variant, to reveal a universal pathogenic mechanism of the ATP7B mutants with altered N-terminus. METHODS: The splicing...
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