Article
Intracellular sequestration of hetero-oligomers formed by wild-type and glaucoma-causing myocilin mutants.
Investigative ophthalmology & visual science - 1 Oct 2004
Gobeil Stéphane, Rodrigue Marc-André, Moisan Steve, Nguyen Thai D, Polansky Jon R, Morissette Jean, Raymond Vincent
Abstract excerpt
PURPOSE: To investigate mechanism(s) by which mutations in the olfactomedin domain of myocilin (MYOC), also known as the trabecular meshwork-induced glucocorticoid response (TIGR) gene, cause autosomal dominant open-angle glaucoma, the structure and properties of wild-type (WT) MYOC protein were examined, when expressed alone or simultaneously with the Q368X or K423E disease-associated polypeptides. METHODS:...
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