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Functional study of two biochemically unusual mutations in GUCY2D Leber congenital amaurosis expressed via adenoassociated virus vector in mouse retinas

PURPOSE: To test, in living photoreceptors, two mutations, S248W and R1091x, in the GUCY2D gene linked to Leber congenital amaurosis 1 (LCA1) that fail to inactivate the catalytic activity of a heterologously expressed retinal membrane guanylyl cyclase 1 (RetGC1). METHODS: GUC2YD cDNA constructs cod...

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Detalles Bibliográficos
Autores principales:	Boye, Sanford L., Olshevskaya, Elena V., Peshenko, Igor V., McCullough, K. Tyler, Boye, Shannon E., Dizhoor, Alexander M.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Molecular Vision 2016
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5108460/ https://www.ncbi.nlm.nih.gov/pubmed/27881908

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