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• W2078168940 abstract "Some mutants of human γD-crystallin are closely linked to congenital cataracts, although the detailed molecular mechanisms of mutant-associated cataract formation are generally not known. Here we report on a recently discovered γD-crystallin mutant (W42R) that has been linked to autosomal dominant, congenital cataracts in a Chinese family. The mutant protein is much less soluble and stable than wild-type γD-crystallin. We solved the crystal structure of W42R at 1.7 Å resolution, which revealed only minor differences from the wild-type structure. Interestingly, the W42R variant is highly susceptible to protease digestion, suggesting the presence of a small population of partially unfolded protein. This partially unfolded species was confirmed and quantified by NMR spectroscopy. Hydrogen/deuterium exchange experiments revealed chemical exchange between the folded and unfolded species. Exposure of wild-type γD-crystallin to UV caused damage to the N-terminal domain of the protein, resulting in very similar proteolytic susceptibility as observed for the W42R mutant. Altogether, our combined data allowed us to propose a model for W42R pathogenesis, with the W42R mutant serving as a mimic for photodamaged γD-crystallin involved in age-related cataract." @default.
• W2078168940 created "2016-06-24" @default.
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• W2078168940 date "2013-01-01" @default.
• W2078168940 modified "2023-10-10" @default.
• W2078168940 title "The Human W42R γD-Crystallin Mutant Structure Provides a Link between Congenital and Age-related Cataracts*" @default.
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• W2078168940 doi "https://doi.org/10.1074/jbc.m112.416354" @default.
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• W2078168940 hasPublicationYear "2013" @default.
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