Article

Exon skipping via chimeric antisense U1 snRNAs to correct Retinitis Pigmentosa GTPase-Regulator (RPGR) splice defect

2021-06-29

Abstract excerpt

Inherited retinal dystrophies are caused by mutations in more than 250 genes, each of them carrying several types of mutations that can lead to different clinical phenotypes. Mutations in Retinitis Pigmentosa GTPase-Regulator (RPGR) cause X-linked Retinitis pigmentosa (RP). A nucleotide substitution in intron 9 of RPGR causes the increase of an alternatively spliced isoform of the mature mRNA, bearing exon 9a (E...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 2eb5e5da-71d7-58be-99a2-134ee9a4d4c4
DOI: 10.1101/2021.06.26.449721

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Exon skipping via chimeric antisense U1 snRNAs to correct Retinitis Pigmentosa GTPase-Regulator (RPGR) splice defectDOI 10.1101/2021.06.26.449721Read

Exon Skipping Through Chimeric Antisense U1 snRNAs to Correct Retinitis Pigmentosa GTPase-Regulator (RPGR) Splice Defect.Semantic proximity Read

Gene therapeutic approach using mutation-adapted U1 snRNA to correct a RPGR splice defect in patient-derived cells.Semantic proximity Read

Using RNA-targeting CRISPR-Cas13 and engineered U1 systems to reduce <i>ABCA4</i> splice variants in Stargardt diseaseSemantic proximity Read

Alternative Splicing Dysregulation in Retinitis Pigmentosa: Pathogenic Mechanisms and Therapeutic Opportunities.Semantic proximity Read

EDSpliCE, a CRISPR-Cas9 gene editing platform to rescue splicing, effectively corrects inherited retinal dystrophy-associated splicing defectsSemantic proximity Read

Genetic therapies for RNA mis-splicing diseases.Semantic proximity Read

Therapeutic strategy to rescue mutation-induced exon skipping in rhodopsin by adaptation of U1 snRNA.Semantic proximity Read

Antisense oligonucleotide therapy for the common Stargardt disease type 1-causing variant in <i>ABCA4</i>Semantic proximity Read

A Precision Therapy Approach for Retinitis Pigmentosa 11 Using Splice-Switching Antisense Oligonucleotides to Restore the Open Reading Frame of PRPF31.Semantic proximity Read

Antisense Oligonucleotide Therapy for Inherited Retinal Dystrophies.Semantic proximity Read

Overview on applications of antisense-mediated exon skipping.Semantic proximity Read

Exon-skipping antisense oligonucleotides to correct missplicing in neurogenetic diseases.Semantic proximity Read