Article
The human W42R γD-crystallin mutant structure provides a link between congenital and age-related cataracts.
The Journal of biological chemistry - 4 Jan 2013
Ji Fangling, Jung Jinwon, Koharudin Leonardus M I, Gronenborn Angela M
Abstract excerpt
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...
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