Article
S209W mutation enhance π-π interactions in the fourth Greek-key of βA3/A1-crystallin linking with aggregation formation and stress susceptibility.
International journal of biological macromolecules - 1 Nov 2025
Hu Lidan, Wu Chengpeng, Liu Jian, Zhang Ying, Guo Jiarui, Liao Yanying, Luo Chenqi, Guo Jing, Shao Yi, Wu Wei, Chen Xiangjun, Xu Jingjie, Jiang Hua
Abstract excerpt
Congenital cataracts are genetically heterogeneous disorders that result in childhood visual impairment. The S209W mutation in the CRYΒA1/ΒA3 gene, located in the fourth Greek-key motif, has been associated with nuclear cataracts, but its pathogenic mechanism remains unclear. In this study, we investigated the effects of the S209W mutation on βA3/A1-crystallin stability and function. The S209W variant was...
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