Article

MYOC/p.G367R mutation induces cell dysfunction of the trabecular meshwork and retina via impairment of the protein degradation mechanism

2022-11-10

Abstract excerpt

MYOC mutations are the leading genetic causes of primary open-angle glaucoma (POAG). We previously identified a recurrent Gly367Arg mutant myocilin (MYOC/p.G367R) associated with juvenile open-angle glaucoma (JOAG) in a large Chinese family, but the pathogenic mechanism remains unclear. The MYOC/p.G367R carrier presented a high intraocular pressure and typic POAG phenotype, including an open anterior angle, a thin...

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Literature Corpus work: 01272660-d219-5d56-b12a-9c315d52a4ca
DOI: 10.21203/rs.3.rs-2206470/v1

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