Monitoring mutant myocilin secretion and localization in trabecular meshwork cell cultures using a protein complementation-based luminescence assay.

Abstract excerpt

Approximately 2-4 % of adult onset and 10 % of juvenile onset cases of primary open angle glaucoma can be attributed to non-synonymous coding mutations in MYOC. One of the key characteristics of a pathogenic MYOC mutant is the inability of the resulting protein to be secreted from trabecular meshwork cells. Instead, pathogenic myocilin variants accumulate in the endoplasmic reticulum. Typically, localization of...

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