Article

A cataract-causing Y204X mutation of CRYßB1 promotes C-terminal degradation and higher-order oligomerization

2023-02-25

Abstract excerpt

Crystallin (Cry) proteins are a class of main structural proteins of vertebrate eye lens, and their solubility and stability directly determine transparency and refractive power of the lens. Mutation in genes that encode for these Cry proteins is the common cause for congenital cataract. Despite extensive studies, the pathogenic and molecular mechanisms remain unclear. In this study, we identified a novel mutation...

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Literature Corpus work: 8de30946-77e3-5963-88a3-48e4de1acf89
DOI: 10.1101/2023.02.24.529791

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