Structure-guided reinterpretation of a disease-associated CWH43 residue-533 truncation identifies internal disruption of a conserved C-terminal module in idiopathic normal pressure hydrocephalus
Haowei Cao, Zhihan Yan, Jing Wang, Yue Liu, Zheng Wei, Yu Cheng, Shuqun Hu, Dejun Yang
The paper reinterprets a CWH43 truncation variant in iNPH using structural analysis, showing it disrupts a conserved C-terminal module and cavity architecture.
bioRxiv · May 5, 2026 · PreprintGenetics