Article
Cataract-causing mutations L45P and Y46D impair the thermal stability of γC-crystallin.
Biochemical and biophysical research communications - 5 Feb 2021
Fu Chenxi, Xu Jingjie, Yang Xiaoxia, Chen Xiangjun, Yao Ke
Abstract excerpt
Crystallin gene mutations are responsible for about half of the congenital cataract caused by genetic disorders. L45P and Y46D mutations of γC-crystallin have been reported in patients with nuclear congenital cataract. In this study, we explored the thermal stability of wild type (WT), L45P, and Y46D mutants of γC-crystallin at low and high concentrations, as well as the effect of αA-crystallin on the thermal...
Topics
- Cataract
- Cryoelectron Microscopy
- Humans
- Mutation
- Protein Stability
- Recombinant Proteins
- Temperature
- gamma-Crystallins
