Publication Category: OCU400

Preclinical dose response study shows NR2E3 can attenuate retinal degeneration in the retinitis pigmentosa mouse model RhoP23H+/−

Drag S, Dotiwala F, Upadhyay AK. Gene Therapy for Retinal Degenerative Diseases: Progress, Challenges, and Future Directions. Invest Ophthalmol Vis Sci. Jun 1 2023;64(7):39. doi:10.1167/iovs.64.7.39

Schorderet DF, Escher P. NR2E3 mutations in enhanced S-cone sensitivity syndrome (ESCS), Goldmann-Favre syndrome (GFS), clumped pigmentary retinal degeneration (CPRD), and retinitis pigmentosa (RP). Hum Mutat. Nov 2009;30(11):1475-85. doi:10.1002/humu.21096

Haider NB, Demarco P, Nystuen A, et al. The transcription factor Nr2e3 functions in retinal progenitors to suppress cone cell generation. Visual Neuroscience. 2006;23(6):917-929. doi:10.1017/S095252380623027X10-14

Cheng H, Aleman TS, Cideciyan AV, Khanna R, Jacobson SG, Swaroop A. In vivo function of the orphan nuclear receptor NR2E3 in establishing photoreceptor identity during mammalian retinal development. Human Molecular Genetics. 2006;15(17):2588-2602. doi:10.1093/hmg/ddl185

Olivares AM, Moreno-Ramos OA, Haider NB. Role of Nuclear Receptors in Central Nervous System Development and Associated Diseases. J Exp Neurosci. 2015;9(Suppl 2):93-121. doi:10.4137/JEN.S25480

Haider NB, Zhang W, Hurd R, et al. Mapping of genetic modifiers of Nr2e3 rd7/rd7 that suppress retinal degeneration and restore blue cone cells to normal quantity. Mamm Genome. Mar 2008;19(3):145-54. doi:10.1007/s00335-008-9092-2

Li S, Datta S, Brabbit E, et al. Nr2e3 is a genetic modifier that rescues retinal degeneration and promotes homeostasis in multiple models of retinitis pigmentosa. Gene Ther. May 2021;28(5):223-241. doi:10.1038/s41434-020-0134-z