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Article

Allele-Specific Knockout by CRISPR/Cas to Treat Autosomal Dominant Retinitis Pigmentosa Caused by the G56R Mutation in NR2E3.

International journal of molecular sciences - 5 Mar 2021

Diakatou Michalitsa, Dubois Gregor, Erkilic Nejla, Sanjurjo-Soriano Carla, Meunier Isabelle, Kalatzis Vasiliki

Abstract excerpt

Retinitis pigmentosa (RP) is an inherited retinal dystrophy that causes progressive vision loss. The G56R mutation in NR2E3 is the second most common mutation causing autosomal dominant (ad) RP, a transcription factor that is essential for photoreceptor development and maintenance. The G56R variant is exclusively responsible for all cases of NR2E3-associated adRP. Currently, there is no treatment for...

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PMID: 33807610
DOI: 10.3390/ijms22052607
PMCID: PMC7961898

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