Article
Autophagy and UPR in alpha-crystallin mutant knock-in mouse models of hereditary cataracts.
Biochimica et biophysica acta - 1 Jan 2016
Andley Usha P, Goldman Joshua W
Abstract excerpt
BACKGROUND: Knock-in mice provide useful models of congenital and age-related cataracts caused by α-crystallin mutations. R49C αA-crystallin and R120G αB-crystallin mutations are linked with hereditary cataracts. Knock-in αA-R49C+/- heterozygotes develop cataracts by 1-2months, whereas homozygote mice have cataracts at birth. The R49C mutation drastically reduces lens protein water solubility and causes cell...
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