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

Advancing Gene Therapy for PDE6A Retinitis Pigmentosa.

Advances in experimental medicine and biology - 1 Jan 2019

Petersen-Jones Simon M, Occelli Laurence M, Biel Martin, Michalakis Stylianos

Abstract excerpt

Mutations in the gene encoding the phosphodiesterase 6 alpha subunit (PDE6A) account for 3-4% of autosomal recessive retinitis pigmentosa (RP), and currently no treatment is available. There are four animal models for PDE6A-RP: a dog with a frameshift truncating mutation (p.Asn616ThrfsTer39) and three mouse models with missense mutations (Val685Met, Asp562Trp, and Asp670Gly) showing a range of phenotype...

Read the complete abstract on PubMed

Topics

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

Share to Cyclic Nucleotide Phosphodiesterases, Type 6
Share to Dependovirus

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Electroretinography

Share to Eye Proteins

Share to Genetic Therapy

Share to Genetic Vectors

Share to Retina

Share to Retinitis Pigmentosa

Source

Identifiers

PMID: 31884596
DOI: 10.1007/978-3-030-27378-1_17

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Advancing Gene Therapy for PDE6A Retinitis Pigmentosa.PMID 31884596Read ↗

Gene Therapy in a Large Animal Model of PDE6A-Retinitis PigmentosaSemantic proximity Read ↗

Gene Supplementation Rescues Rod Function and Preserves Photoreceptor and Retinal Morphology in Dogs, Leading the Way Toward Treating Human PDE6A -Retinitis PigmentosaSemantic proximity Read ↗

Review: the history and role of naturally occurring mouse models with Pde6b mutations.Semantic proximity Read ↗

Gene therapy provides long-term visual function in a pre-clinical model of retinitis pigmentosaSemantic proximity Read ↗

AAV8-PDE6B with 3’UTR provides durable rescue of photoreceptor structure and function in rd10 mouse model of retinitis pigmentosaSemantic proximity Read ↗

A gene-augmentation framework for selected early-stage autosomal recessive retinitis pigmentosa genotypesSemantic proximity Read ↗

Subretinal delivery of AAV5-mediated human Pde6b gene ameliorates the disease phenotype in a rat model of retinitis pigmentosa.Semantic proximity Read ↗

Molecular Strategies for RPGR Gene TherapySemantic proximity Read ↗

Molecular biology tools for the study and therapy of PDE6β mutations.Semantic proximity Read ↗

Characterization of a novel Pde6b-deficient rat model of retinal degeneration and treatment with adeno-associated virus (AAV) gene therapySemantic proximity Read ↗

Gene therapy rescues photoreceptor blindness in dogs and paves the way for treating human X-linked retinitis pigmentosa.Semantic proximity Read ↗

<i>In vivo</i> base editing rescues photoreceptors in a mouse model of retinitis pigmentosaSemantic proximity Read ↗

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