Article
A novel cataract-causing mutation Ile82Met of γA crystallin trends to aggregate with unfolding intermediate.
International journal of biological macromolecules - 30 Jun 2022
Xu Wanyue, Xu Jingjie, Shi Caiping, Wu Jing, Wang Huaxia, Wu Wei, Chen Xiangjun, Hu Lidan
Abstract excerpt
Cataract is the most common pathogenic ophthalmic disease leading to blindness in children worldwide. Genetic disorder is the leading cause of congenital cataract, among which crystallin mutations have a high incidence. There are few reports on γA-crystallin, one critical member of crystallin superfamilies. In this study, we identified a novel pathogenic mutation (Ile82Met) in γA-crystallin from a...
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