Article
Inefficient processing of an olfactomedin-deficient myocilin mutant: potential physiological relevance to glaucoma.
Biochemical and biophysical research communications - 6 Apr 2001
Caballero M, Borrás T
Abstract excerpt
Mutations in TIGR/MYOC (myocilin), a secretory protein of unknown function, have been recently linked to glaucoma. Most known mutations map to the C-terminus, an olfactomedin-like domain. We have previously shown that, in contrast to the wild-type, a truncated form of myocilin lacking the olfactomedin domain is not secreted. In this study, we present evidence that the mutant protein is not correctly processed in...
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