Article
Structural and biochemical characterization of the childhood cataract-associated R76S mutant of human γD-crystallin.
Biochemistry - 27 Mar 2012
Ji Fangling, Jung Jinwon, Gronenborn Angela M
Abstract excerpt
Although a number of γD-crystallin mutations are associated with cataract formation, there is not a clear understanding of the molecular mechanism(s) that lead to this protein deposition disease. As part of our ongoing studies on crystallins, we investigated the recently discovered Arg76 to Ser (R76S) mutation that is correlated with childhood cataract in an Indian family. We expressed the R76S γD-crystallin...
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