Article

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

2025-03-03

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 M...

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Literature Corpus work: 9f4c5373-b987-518a-b285-8aeaa0e92bfd
DOI: 10.1101/2025.02.28.640780

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