Article
The stability of myocilin olfactomedin domain variants provides new insight into glaucoma as a protein misfolding disorder.
Biochemistry - 5 Jul 2011
Burns J Nicole, Turnage Katherine C, Walker Chandler A, Lieberman Raquel L
Abstract excerpt
Myocilin variants, localized to the olfactomedin (OLF) domain, are linked to early-onset, inherited forms of open-angle glaucoma. Disease-causing myocilin variants accumulate within trabecular meshwork cells instead of being secreted to the trabecular extracellular matrix of the eye. We hypothesize that, like in other diseases of protein misfolding, aggregation and downstream pathogenesis originate from the...
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