Article
Congenital cataract-causing mutation βB1-L116P is prone to amyloid fibrils aggregation and protease degradation with low structural stability.
International journal of biological macromolecules - 15 Jan 2022
Liu Jian, Xu Wanyue, Wang Kaijie, Chen Fanrui, Ren Ling, Xu Jingjie, Yao Ke, Chen Xiangjun
Abstract excerpt
Congenital cataract, a common disease with lens opacification, causes blindness in the newborn worldwide and is mainly caused by abnormal aggregation of crystallin. As the main structural protein in the mammalian lens, βB1-crystallin has an important role in the maintenance of lens transparency. Recently, the L116P mutation in βB1-CRY was found in a Chinese family with congenital nuclear cataracts, while its...
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