The G18V CRYGS mutation associated with human cataracts increases gammaS-crystallin sensitivity to thermal and chemical stress.

@article{Ma2009TheGC,
  title={The G18V CRYGS mutation associated with human cataracts increases gammaS-crystallin sensitivity to thermal and chemical stress.},
  author={Zhiwei Ma and G. Piszczek and P. Wingfield and Y. Sergeev and J. Hejtmancik},
  journal={Biochemistry},
  year={2009},
  volume={48 30},
  pages={
          7334-41
        }
}
GammaS-crystallin, important in maintaining lens transparency, is a monomeric betagamma-crystallin comprising two paired homologous domains, each with two Greek key motifs. An autosomal dominant cortical progressive cataract has been associated with a G18V mutation in human gammaS-crystallin. To investigate the molecular mechanism of this cataract and confirm the causative nature of the G18V mutation, we examined resultant changes in conformation and stability. Human gammaS-crystallin cDNA was… Expand
sHSP in the eye lens: crystallin mutations, cataract and proteostasis.
Multiple Aggregation Pathways in Human γS-Crystallin and Its Aggregation-Prone G18V Variant
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