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Article

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

Molecular vision - 1 Jan 2016

Boye Sanford L, Olshevskaya Elena V, Peshenko Igor V, McCullough K Tyler, Boye Shannon E, Dizhoor Alexander M

Abstract excerpt

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 coding for wild-type human (hWT), R1091x, and S248W GUCY2D under the control of the human rhodopsin kinase promoter...

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PMID: 27881908
PMCID: PMC5108460

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ERG

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