A cataract-causing Y204X mutation of CRYβB1 promotes C-terminal degradation and higher-order oligomerization
X. Jing, X. Lu, M. Zhu, L. Shi, P. Wei, B.-Y. Zhang, Y. Xu, D. Xiang, Y.-P. Tang, P. Gong
This study identifies a cataract-causing mutation in CRYβB1 that leads to C-terminal truncation, increased proteolysis, and higher-order oligomerization, contributing to lens opacity.
bioRxiv · Feb 24, 2023 · PreprintBiochemistry