Heterozygous expression of myocilin glaucoma mutants increases secretion of the mutant forms and reduces extracellular processed myocilin

PURPOSE: Heterozygous mutations in the myocilin gene (MYOC) cause glaucoma by an unknown mechanism. MYOC encodes an extracellular protein of unidentified function that undergoes intracellular endoproteolytic processing in the secretory pathway. It has been described that co-expression of wild-type/m...

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Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: Aroca-Aguilar, José-Daniel, Sánchez-Sánchez, Francisco, Martínez-Redondo, Francisco, Coca-Prados, Miguel, Escribano, Julio
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Molecular Vision 2008
Gaiak:
Research Article
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC2585175/
https://ncbi.nlm.nih.gov/pubmed/19023451
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