Article

Advancing translational readthrough therapies: genetic and mechanistic insights in Choroideremia nonsense mutation models

2026-03-05

Abstract excerpt

<title>Abstract</title> <p>Nonsense variants account for approximately 11% of rare genetic diseases and represent a severe class of mutations for which effective therapies are still lacking. One promising strategy is suppression therapy using translational readthrough-inducing drugs (TRIDs). In this study, we investigated the mechanisms of action and readthrough activity of three TRIDs, NV848, NV914, and NV930, i...

Topics

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

Identifiers and source

Literature Corpus work: f4b348d0-6dcc-59c9-b1c4-5e584416cad1
DOI: 10.21203/rs.3.rs-9030140/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Advancing translational readthrough therapies: genetic and mechanistic insights in Choroideremia nonsense mutation modelsDOI 10.21203/rs.3.rs-9030140/v1Read

Functional rescue of REP1 following treatment with PTC124 and novel derivative PTC-414 in human choroideremia fibroblasts and the nonsense-mediated zebrafish modelSemantic proximity Read

Targeting Nonsense Mutations in Diseases with Translational Read-Through-Inducing Drugs (TRIDs).Semantic proximity Read

Readthrough compounds for nonsense mutations: bridging the translational gap.Semantic proximity Read

Single anticodon-edited tRNA therapy targeting highly prevalent Arg>Ter premature termination codons causing inherited retinal diseasesSemantic proximity Read

Readthrough Activators and Nonsense-Mediated mRNA Decay Inhibitor Molecules: Real Potential in Many Genetic Diseases Harboring Premature Termination CodonsSemantic proximity Read

The effect of PTC124 on choroideremia fibroblasts and iPSC-derived RPE raises considerations for therapySemantic proximity Read

Readthrough approach by NV translational readthrough inducing drugs (TRIDs): a study of the possible off-target effects on natural termination codons (NTCs) on TP53 and housekeeping genes expression.Semantic proximity Read

Nonsense-mediated mRNA decay efficiency varies in choroideremia providing a target to boost small molecule therapeuticsSemantic proximity Read

Molecular Insights into Determinants of Translational Readthrough and Implications for Nonsense Suppression Approaches.Semantic proximity Read

Mechanism-based approach in designing patient-specific combination therapies for nonsense mutation diseasesSemantic proximity Read

Introducing sense into nonsense in treatments of human genetic diseases.Semantic proximity Read

Effect of Readthrough Treatment in Fibroblasts of Patients Affected by Lysosomal Diseases Caused by Premature Termination Codons.Semantic proximity Read