The human W42R γD-crystallin mutant structure provides a link between congenital and age-related cataracts.

@article{Ji2013TheHW,
  title={The human W42R γD-crystallin mutant structure provides a link between congenital and age-related cataracts.},
  author={Fangling Ji and Jinwon Jung and Leonardus M. I. Koharudin and Angela M. Gronenborn},
  journal={The Journal of biological chemistry},
  year={2013},
  volume={288 1},
  pages={99-109}
}
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… CONTINUE READING

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