Article
Crystal structure of R120G disease mutant of human αB-crystallin domain dimer shows closure of a groove.
Journal of molecular biology - 22 Apr 2011
Clark A R, Naylor C E, Bagnéris C, Keep N H, Slingsby C
Abstract excerpt
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...
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