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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Bibliografiska uppgifter
Huvudupphovsmän: Aroca-Aguilar, José-Daniel, Sánchez-Sánchez, Francisco, Martínez-Redondo, Francisco, Coca-Prados, Miguel, Escribano, Julio
Materialtyp: Artigo
Språk:Inglês
Publicerad: Molecular Vision 2008
Ämnen:
Research Article
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC2585175/
https://ncbi.nlm.nih.gov/pubmed/19023451
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