Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Ataluren for the Treatment of Usher Syndrome 2A Caused by Nonsense Mutations.

International journal of molecular sciences - 12 Dec 2019

Samanta Ananya, Stingl Katarina, Kohl Susanne, Ries Jessica, Linnert Joshua, Nagel-Wolfrum Kerstin

Abstract excerpt

The identification of genetic defects that underlie inherited retinal diseases (IRDs) paves the way for the development of therapeutic strategies. Nonsense mutations caused approximately 12% of all IRD cases, resulting in a premature termination codon (PTC). Therefore, an approach that targets nonsense mutations could be a promising pharmacogenetic strategy for the treatment of IRDs. Small molecules...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Codon, Nonsense
Share to Extracellular Matrix Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Fibroblasts

Share to HEK293 Cells

Share to Oxadiazoles

Share to Protein Biosynthesis

Share to Structure-Activity Relationship

Share to Usher Syndromes

Source

Open in PubMed Open full text

Identifiers

PMID: 31842393
DOI: 10.3390/ijms20246274
PMCID: PMC6940777

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Ataluren for the Treatment of Usher Syndrome 2A Caused by Nonsense Mutations.PMID 31842393Read ↗

USH2A-retinopathy: From genetics to therapeutics.Semantic proximity Read ↗

Restoration of functional PAX6 in aniridia patient iPSC-derived ocular tissue models using repurposed nonsense suppression drugsSemantic proximity Read ↗

[Advances on gene therapy for USH2A exon 13 related inherited retinal dystrophy].Semantic proximity Read ↗

Nonsense Mutation in USH2A Exon-13 Activates the Innate Immune Response in Müller Glial CellsSemantic proximity Read ↗

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

AAV-mediated exon skipping therapy for Usher syndrome, type 2A.Semantic proximity Read ↗

Comparison of CRISPR-Cas13b RNA base editing approaches for USH2A-associated inherited retinal degenerationSemantic proximity Read ↗

Ataluren: first global approval.Semantic proximity Read ↗

Patient-Derived Inner Ear Organoids as a Disease Modeling and Therapy Validation Platform For Hereditary Inner Ear DisordersSemantic proximity Read ↗

New CRISPR Tools to Correct Pathogenic Mutations in Usher Syndrome.Semantic proximity Read ↗

Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction.Semantic proximity Read ↗

Antisense oligonucleotide-based treatment of retinitis pigmentosa caused by mutations in <i>USH2A</i> exon 13Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.