Article
Cataract mutation P20S of alphaB-crystallin impairs chaperone activity of alphaA-crystallin and induces apoptosis of human lens epithelial cells.
Biochimica et biophysica acta - 1 May 2008
Li Hui, Li Chang, Lu Qiulun, Su Ting, Ke Tie, Li David Wan-Cheng, Yuan Mingxiong, Liu Jingyu, Ren Xiang, Zhang Zhihong, Zeng Shaoqiong, Wang Qing K, Liu Mugen
Abstract excerpt
Cataract is a common cause of childhood blindness worldwide. alpha-crystallin, which is comprised of two homologous subunits, alphaA- and alphaB-crystallin, plays a key role in the maintenance of lens transparency. Recently, we have identified a missense mutation in alphaB-crystallin that changes the proline residue at codon 20 to a serine residue (P20S) in a large Chinese family with autosomal dominant posterior...
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