{"doi":"10.1371/journal.pgen.1011502","title":"Functional investigation suggests CNTNAP5 involvement in glaucomatous neurodegeneration obtained from a GWAS in primary angle closure glaucoma","abstract":"Primary angle closure glaucoma (PACG) affects more than 20 million people worldwide, with an increased prevalence in south-east Asia. In a prior haplotype-based Genome Wide Association Study (GWAS), we identified a novel CNTNAP5 genic region, significantly associated with PACG. In the current study, we have extended our perception of CNTNAP5 involvement in glaucomatous neurodegeneration in a zebrafish model, through investigating phenotypic consequences pertinent to retinal degeneration upon knockdown of cntnap5 by translation-blocking morpholinos. While cntnap5 knockdown was successfully validated using an antibody, immunofluorescence followed by western blot analyses in cntnap5-morphant (MO) zebrafish revealed increased expression of acetylated tubulin indicative of perturbed cytoarchitecture of retinal layers. Moreover, significant loss of Nissl substance is observed in the neuro-retinal layers of cntnap5-MO zebrafish eye, indicating neurodegeneration. Additionally, in spontaneous movement behavioural analysis, cntnap5-MO zebrafish have a significantly lower average distance traversed in light phase compared to mismatch-controls, whereas no significant difference was observed in the dark phase, corroborating with vision loss in the cntnap5-MO zebrafish. This study provides the first direct functional evidence of a putative role of CNTNAP5 in visual neurodegeneration.","journal":"PLoS Genetics","year":2024,"id":482513,"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":1,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":0.9425,"is_data_producer":false,"deposit_databanks":null,"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2024-01-01","fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":1323474,"name":"Jyotishman Sarma","orcid":null,"position":1,"is_corresponding":false},{"id":1323475,"name":"Shantanu Saha Roy","orcid":null,"position":2,"is_corresponding":false},{"id":1323064,"name":"Sukanya Mitra","orcid":"0000-0002-2401-957X","position":3,"is_corresponding":false},{"id":1323476,"name":"Sayani Bagchi","orcid":null,"position":4,"is_corresponding":false},{"id":1323477,"name":"Sankhadip Das","orcid":null,"position":5,"is_corresponding":false},{"id":1323478,"name":"Sreemoyee Saha","orcid":null,"position":6,"is_corresponding":false},{"id":1323479,"name":"Surajit Mahapatra","orcid":null,"position":7,"is_corresponding":false},{"id":990362,"name":"Samsiddhi Bhattacharjee","orcid":"0000-0002-8549-1130","position":8,"is_corresponding":false},{"id":1323065,"name":"Mahua Maulik","orcid":"0000-0002-9046-3716","position":9,"is_corresponding":false},{"id":1323066,"name":"Moulinath Acharya","orcid":"0000-0001-8013-7426","position":10,"is_corresponding":false},{"id":1323063,"name":"Sudipta Chakraborty","orcid":"0000-0003-2277-9759","position":0,"is_corresponding":true}],"reference_count":50,"raw_metadata":null,"created_at":"2026-07-19T02:07:18.280369Z","pmid":"39637236","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":[]}