Structural and functional characterization of a missense mutant of human γS-crystallin associated with dominant infantile cataracts.
Sign Up to like & getrecommendations! Published in 2018 at "Biochemical and biophysical research communications"
DOI: 10.1016/j.bbrc.2018.10.187
Abstract: Infantile cataracts constitute one of the most important causes of childhood blindness worldwide. Human γS-crystallin is the most abundant protein in the eye lens cortex. A missense mutant of human γS-crystallin, Y67N (abbreviated hereafter as… read more here.
Keywords: infantile cataracts; missense mutant; mutant human; structural functional ... See more keywords
On identifying low energy conformational excited states with differential ruggedness in human γS-crystallin promoting severe infantile cataracts.
Sign Up to like & getrecommendations! Published in 2019 at "Biochemical and biophysical research communications"
DOI: 10.1016/j.bbrc.2019.05.071
Abstract: Transient excited states in proteins can be accurately probed from temperature dependence of amide proton (1HN) chemical shifts displaying significant curvatures. Characterizing these near-native alternative states is of high therapeutic relevance in conformational diseases wherein… read more here.
Keywords: ruggedness human; energy; infantile cataracts; excited states ... See more keywords