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

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

21 Jun 2016

Abstract excerpt

Choroideremia (CHM) is an X-linked chorioretinal dystrophy that is caused by mutations within a single gene, CHM. Currently no effective treatment exists for these patients. Since over 30% of patients harbour nonsense mutations in CHM, nonsense suppression therapy using translational readthrough inducing drugs may provide functional rescue of REP1, thus attenuating progressive sight loss. Here, we employed two...

Read the complete abstract on PubMed

Topics

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

Share to Glaucoma and retinal disorders
Share to Retinal Development and Disorders
Share to Retinal Diseases and Treatments

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 27329764
DOI: 10.1093/hmg/ddw184

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Functional rescue of REP1 following treatment with PTC124 and novel derivative PTC-414 in human choroideremia fibroblasts and the nonsense-mediated zebrafish modelPMID 27329764Read ↗

Advancing translational readthrough therapies: genetic and mechanistic insights in Choroideremia nonsense mutation modelsSemantic proximity Read ↗

Gene Augmentation of CHM Using Non-Viral Episomal Vectors in Models of Choroideremia.Semantic proximity Read ↗

Adeno‐associated virus 8‐mediated gene therapy for choroideremia: preclinical studies in in vitro and in vivo modelsSemantic proximity Read ↗

Pathogenicity of a novel missense variant associated with choroideremia and its impact on gene replacement therapy.Semantic proximity Read ↗

Single choroideremia gene in nonmammalian vertebrates explains early embryonic lethality of the zebrafish model of choroideremia.Semantic proximity Read ↗

Translational bypass of nonsense mutations in zebrafish rep1, pax2.1 and lamb1 highlights a viable therapeutic option for untreatable genetic eye disease.Semantic proximity Read ↗

Choroideremia: molecular mechanisms and therapies.Semantic proximity Read ↗

Choroideremia: from genetic and clinical phenotyping to gene therapy and future treatmentsSemantic proximity Read ↗

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

Use of induced pluripotent stem cell models to probe the pathogenesis of Choroideremia and to develop a potential treatmentSemantic proximity Read ↗

Investigation of PTC124-mediated translational readthrough in a retinal organoid model of AIPL1-associated Leber congenital amaurosisSemantic proximity Read ↗

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

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