{"doi":"10.7555/jbr.33.20190056","title":"AAV-mediated human CNGB3 restores cone function in an all-cone mouse model of &lt;i&gt;CNGB3&lt;/i&gt; achromatopsia","abstract":"Complete congenital achromatopsia is a devastating hereditary visual disorder. Mutations in the <i>CNGB3</i> gene account for more than 50% of all known cases of achromatopsia. This work investigated the efficiency of subretinal (SR) delivered AAV8 (Y447, 733F) vector containing a human PR2.1 promoter and a human CNGB3 cDNA in <i>Cngb3</i><sup>−/−</sup>/<i>Nrl</i><sup>−/−</sup> mice. The <i>Cngb3</i><sup>−/−</sup>/<i>Nrl</i><sup>−/−</sup> mouse was a cone-dominant model with Cngb3 channel deficiency, which partially mimicked the all-cone foveal structure of human achromatopsia with <i>CNGB3</i> mutations. Following SR delivery of the vector, AAV-mediated CNGB3 expression restored cone function which was assessed by the restoration of the cone-mediated electroretinogram (ERG) and immunohistochemistry. This therapeutic rescue resulted in long-term improvement of retinal function with the restoration of cone ERG amplitude. This study demonstrated an AAV-mediated gene therapy in a cone-dominant mouse model using a human gene construct and provided the potential to be utilized in clinical trials.","journal":"Journal of Biomedical Research","year":2020,"id":110869,"datarank":0.0,"base_score":0.0,"endowment":0.0,"self_citation_contribution":0.0,"citation_network_contribution":0.0,"self_endowment_contribution":0.0,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":5,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":0.9569,"is_data_producer":false,"deposit_databanks":null,"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2020-01-01","fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":527016,"name":"Shanshan Wang","orcid":"0000-0002-0575-6523","position":1,"is_corresponding":false},{"id":527017,"name":"Miao Xu","orcid":"0000-0002-3155-8512","position":2,"is_corresponding":false},{"id":528008,"name":"Jijing Pang","orcid":null,"position":3,"is_corresponding":false},{"id":527018,"name":"Zhilan Yuan","orcid":"0000-0002-0951-7730","position":4,"is_corresponding":false},{"id":527019,"name":"Chen Zhao","orcid":"0000-0003-1373-7637","position":5,"is_corresponding":false},{"id":527015,"name":"Yuxin Zhang","orcid":"0009-0004-0736-0815","position":0,"is_corresponding":true}],"reference_count":45,"raw_metadata":null,"created_at":"2026-07-18T23:13:01.914939Z","pmid":"32305965","pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":null,"fair_a":null,"fair_i":null,"fair_r":null,"fair_zscore":null,"fair_rationale":null,"fair_model":null,"fair_agent_version":null,"fair_fulltext_source":null,"fair_has_llm":null,"fair_computed_at":null,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}