Article
Gene Augmentation Therapy for a Missense Substitution in the cGMP-Binding Domain of Ovine CNGA3 Gene Restores Vision in Day-Blind Sheep.
Investigative ophthalmology & visual science - 1 Mar 2017
Gootwine Elisha, Abu-Siam Mazen, Obolensky Alexey, Rosov Alex, Honig Hen, Nitzan Tali, Shirak Andrey, Ezra-Elia Raaya, Yamin Esther, Banin Eyal, Averbukh Edward, Hauswirth William W, Ofri Ron, Seroussi Eyal
Abstract excerpt
Purpose: Applying CNGA3 gene augmentation therapy to cure a novel causative mutation underlying achromatopsia (ACHM) in sheep. Methods: Impaired vision that spontaneously appeared in newborn lambs was characterized by behavioral, electroretinographic (ERG), and histologic techniques. Deep-sequencing reads of an affected lamb and an unaffected lamb were compared within conserved genomic regions orthologous to...
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