Antisense Oligonucleotide-Based Downregulation of the G56R Pathogenic Variant Causing <i>NR2E3</i>-Associated Autosomal Dominant Retinitis Pigmentosa

Antisense Oligonucleotide-Based Downregulation of the G56R Pathogenic Variant Causing <i>NR2E3</i>-Associated Autosomal Dominant Retinitis Pigmentosa

The recurrent missense variant in Nuclear Receptor Subfamily 2 Group E Member 3 (NR2E3), c.166G&gt;A, p.(Gly56Arg) or G56R, underlies 1%&#8211;2% of cases with autosomal dominant retinitis pigmentosa (adRP), a frequent, genetically heterogeneous inherited retinal disease (IRD). The mutant NR...

Full description

Bibliographic Details
Main Authors: Sarah Naessens, Laurien Ruysschaert, Steve Lefever, Frauke Coppieters, Elfride De Baere
Format: Article
Language:English
Published: MDPI AG 2019-05-01
Series:Genes
Subjects:
retinitis pigmentosa
autosomal dominant
NR2E3
G56R
putative dominant negative effect
gapmer antisense oligonucleotides
allele-specific knockdown
Online Access:https://www.mdpi.com/2073-4425/10/5/363

Internet

https://www.mdpi.com/2073-4425/10/5/363

Similar Items