Article
βB2 W151R mutant is prone to degradation, aggregation and exposes the hydrophobic side chains in the fourth Greek Key motif.
Biochimica et biophysica acta. Molecular basis of disease - 1 Feb 2021
Xu Jingjie, Wang Huaxia, Wang Ailing, Xu Jia, Fu Chenxi, Jia Zhekun, Yao Ke, Chen Xiangjun
Abstract excerpt
Studies have established that congenital cataract is the major cause of blindness in children across the globe. The β-crystallin protein family is the richest and most soluble structural protein in the lens. Their solubility and stability are essential in maintaining lens transparency. In this study, we identified a novel βB2 mutation W151R in a rare progressive cortical congenital cataract family and explored...
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