Article
Non-secretion of mutant proteins of the glaucoma gene myocilin in cultured trabecular meshwork cells and in aqueous humor.
Human molecular genetics - 15 Jan 2001
Jacobson N, Andrews M, Shepard A R, Nishimura D, Searby C, Fingert J H, Hageman G, Mullins R, Davidson B L, Kwon Y H, Alward W L, Stone E M, Clark A F, Sheffield V C
Abstract excerpt
Until recently, very little was known about the molecular mechanisms responsible for the development of glaucoma, a leading cause of blindness worldwide. Mutations in the glaucoma gene myocilin (MYOC, GLC1A) are associated with elevated intraocular pressure and the development of autosomal dominant juvenile glaucoma and a subset of adult-onset glaucoma. MYOC is expressed in the trabecular meshwork (TM), a tissue...
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