Crystal Structure of R120G Disease Mutant of Human αB-Crystallin Domain Dimer Shows Closure of a Groove

@inproceedings{Clark2011CrystalSO,
  title={Crystal Structure of R120G Disease Mutant of Human αB-Crystallin Domain Dimer Shows Closure of a Groove},
  author={Airell Richard Clark and Charlie Naylor and Claire Bagn{\'e}ris and N. H. Keep and Christine Slingsby},
  booktitle={Journal of molecular biology},
  year={2011}
}
Small heat shock proteins form large cytosolic assemblies from an "α-crystallin domain" (ACD) flanked by sequence extensions. Mutation of a conserved arginine in the ACD of several human small heat shock protein family members causes many common inherited diseases of the lens and neuromuscular system. The mutation R120G in αB-crystallin causes myopathy, cardiomyopathy and cataract. We have solved the X-ray structure of the excised ACD dimer of human αB R120G close to physiological pH and… CONTINUE READING
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