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Correction of the disease phenotype of myocilin-causing glaucoma by a natural osmolyte.
Jia Li-Yun, Gong Bo, Pang Chi-Pui, Huang Yao, Lam Dennis Shun-Chiu, Wang Ningli et al.
Invest Ophthalmol Vis SciAug 200944 citationsBasic Science
This study found a novel myocilin mutation causing juvenile glaucoma. A natural osmolyte, TMAO, improved the mutant protein's folding, secretion, and reduced cell stress. This suggests a potential chaperone-based therapy for myocilin-related glaucoma.