Article

Gene augmentation and read-through rescue channelopathy in an iPSC-RPE model of congenital blindness

2018-12-04

Abstract excerpt

<h4>Purpose</h4> Mutations in the KCNJ13 gene are known to cause Leber’s Congenital Amaurosis (LCA16), an inherited pediatric blindness. KCNJ13 gene encodes the Kir7.1 subunit protein which acts as a tetrameric inwardly rectifying potassium ion channel in the retinal pigment epithelium to maintain ionic homeostasis thereby allowing photoreceptors to encode visual information. We sought to determine if genetic a...

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Literature Corpus work: 90b64b7e-f358-5a21-a341-c0855a477c1c
DOI: 10.1101/485847

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