Serine to proline mutation at position 341 of MYOC impairs trabecular meshwork function by causing autophagy deregulation

Abstract excerpt

Abstract Glaucoma is a highly heritable disease, and myocilin was the first identified causal and most common pathogenic gene in glaucoma. Serine-to-proline mutation at position 341 of myocilin (MYOC S341P ) is associated with severe glaucoma phenotypes in a five-generation primary open-angle glaucoma family. However, the underlying mechanisms are underexplored. Herein, we established the MYOC S341P transgenic...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Glaucoma and retinal disorders
• Share to Proteoglycans and glycosaminoglycans research
• Share to Retinal Diseases and Treatments