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

Investigation of PTC124-mediated translational readthrough in a retinal organoid model of AIPL1-associated Leber congenital amaurosis

8 Sept 2022

Abstract excerpt

Leber congenital amaurosis type 4 (LCA4), caused by AIPL1 mutations, is characterized by severe sight impairment in infancy and rapidly progressing degeneration of photoreceptor cells. We generated retinal organoids using induced pluripotent stem cells (iPSCs) from renal epithelial cells obtained from four children with AIPL1 nonsense mutations. iPSC-derived photoreceptors exhibited the molecular hallmarks of...

Read the complete abstract on PubMed

Topics

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

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: 36084639
DOI: 10.1016/j.stemcr.2022.08.005

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Investigation of PTC124-mediated translational readthrough in a retinal organoid model of AIPL1-associated Leber congenital amaurosisPMID 36084639Read ↗

Translational readthrough as a potential therapeutic for AIPL1-associated Leber Congenital Amaurosis in a patient-derived iPSC-retinal organoid modelSemantic proximity Read ↗

Retinal Organoids from an AIPL1 CRISPR/Cas9 Knockout Cell Line Successfully Recapitulate the Molecular Features of LCA4 DiseaseSemantic proximity Read ↗

Effective AAV-mediated gene replacement therapy in retinal organoids modeling AIPL1-associated LCA4Semantic proximity Read ↗

Retinal Organoids derived from hiPSCs of an AIPL1-LCA Patient Maintain Cytoarchitecture despite Reduced levels of Mutant AIPL1.Semantic proximity Read ↗

Small molecule treatment alleviates photoreceptor cilia defects in LCA5-deficient human retinal organoidsSemantic proximity Read ↗

Gene and Cell Therapy for AIPL1-Associated Leber Congenital Amaurosis: Challenges and Prospects.Semantic proximity Read ↗

Small molecule treatment alleviates photoreceptor cilia defects in LCA5-deficient human retinal organoidsSemantic proximity Read ↗

Allele-specific gene editing to rescue dominant CRX-associated LCA7 phenotypes in a retinal organoid model.Semantic proximity Read ↗

Identification and Correction of Mechanisms Underlying Inherited Blindness in Human iPSC-Derived Optic CupsSemantic proximity Read ↗

Gene Therapy of Dominant CRX-Leber Congenital Amaurosis using Patient Stem Cell-Derived Retinal Organoids.Semantic proximity Read ↗

Single-Cell Transcriptomic Dataset of RPGR-associated Retinitis Pigmentosa Patient-Derived Retinal Organoids.Semantic proximity Read ↗

AIPL1, the protein that is defective in Leber congenital amaurosis, is essential for the biosynthesis of retinal rod cGMP phosphodiesterase.Semantic proximity Read ↗

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