{"doi":"10.1016/j.ymthe.2025.06.017","title":"Precise progerin targeting using RfxCas13d: A therapeutic avenue for Hutchinson-Gilford progeria syndrome","abstract":null,"journal":"Molecular Therapy","year":2025,"id":626954,"datarank":0.29188652235829704,"base_score":1.9459101490553132,"endowment":1.9459101490553132,"self_citation_contribution":0.29188652235829704,"citation_network_contribution":0.0,"self_endowment_contribution":0.29188652235829704,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":6,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":null,"is_data_producer":false,"deposit_databanks":null,"is_oa":false,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":null,"fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":1622122,"name":"Hae-Jun Yang","orcid":null,"position":1,"is_corresponding":false},{"id":1622123,"name":"Hanseop Kim","orcid":null,"position":2,"is_corresponding":false},{"id":1523683,"name":"Seung Hwan Lee","orcid":null,"position":3,"is_corresponding":false},{"id":1622124,"name":"Dong Gil Lee","orcid":null,"position":4,"is_corresponding":false},{"id":1622125,"name":"Jeong Young Koo","orcid":null,"position":5,"is_corresponding":false},{"id":1622126,"name":"Seung-Min Ha","orcid":null,"position":6,"is_corresponding":false},{"id":1622127,"name":"Seo-Jong Bak","orcid":null,"position":7,"is_corresponding":false},{"id":1622128,"name":"Mina Joo","orcid":null,"position":8,"is_corresponding":false},{"id":1622129,"name":"Hyun Hee Nam","orcid":null,"position":9,"is_corresponding":false},{"id":1622130,"name":"Kyung-Seob Lim","orcid":null,"position":10,"is_corresponding":false},{"id":1622131,"name":"Philyong Kang","orcid":null,"position":11,"is_corresponding":false},{"id":1622132,"name":"Hee-Chang Son","orcid":null,"position":12,"is_corresponding":false},{"id":1622133,"name":"You Jeong An","orcid":null,"position":13,"is_corresponding":false},{"id":1622134,"name":"Young-Hyun Kim","orcid":null,"position":14,"is_corresponding":false},{"id":1622135,"name":"In-Sung Song","orcid":null,"position":15,"is_corresponding":false},{"id":135975,"name":"Sang-Hee Lee","orcid":null,"position":16,"is_corresponding":false},{"id":1622137,"name":"Hae Rim Kim","orcid":null,"position":17,"is_corresponding":false},{"id":1622140,"name":"Sang-Mi Cho","orcid":null,"position":18,"is_corresponding":false},{"id":1547492,"name":"Eun-Kyoung Kim","orcid":"0000-0002-0631-3660","position":19,"is_corresponding":false},{"id":1435805,"name":"Ki-Hoan Nam","orcid":null,"position":20,"is_corresponding":false},{"id":1622145,"name":"Kyung-Sook Chung","orcid":null,"position":21,"is_corresponding":false},{"id":1622147,"name":"Jae-Yoon Kim","orcid":null,"position":22,"is_corresponding":false},{"id":1622149,"name":"Seon-Yeop Kim","orcid":null,"position":23,"is_corresponding":false},{"id":1622151,"name":"Seon-Kyu Kim","orcid":null,"position":24,"is_corresponding":false},{"id":14579,"name":"Seon-Young Kim","orcid":"0000-0002-1030-7730","position":25,"is_corresponding":false},{"id":1622154,"name":"Dong-Seok Lee","orcid":null,"position":26,"is_corresponding":false},{"id":112473,"name":"Jin-Man Kim","orcid":null,"position":27,"is_corresponding":false},{"id":1622157,"name":"Young-Ho Park","orcid":null,"position":28,"is_corresponding":false},{"id":1622159,"name":"Sun-Uk Kim","orcid":"0000-0002-5168-6976","position":29,"is_corresponding":false},{"id":1622121,"name":"Unbin Chae","orcid":null,"position":0,"is_corresponding":false}],"reference_count":0,"raw_metadata":{"has_enrichment":true,"resolved":true,"title":"Precise progerin targeting using RfxCas13d: A therapeutic avenue for Hutchinson-Gilford progeria syndrome","abstract":"Hutchinson-Gilford progeria syndrome (HGPS), an extremely rare progressive genetic disorder, is caused by a point mutation in LMNA that induces progerin production, which disrupts cellular function and triggers premature aging and mortality. Despite extensive efforts, HPGS remains incurable. We successfully implemented a strategy using RfxCas13d to selectively target progerin mRNA at specific junction regions, without unintended cleavage and reduce its expression. This technique discriminated between normal lamin A and progerin, thus providing a safe and targeted therapeutic avenue to treat HGPS. Our approach effectively restored aberrant gene expression and progerin-induced cellular phenotypes, including senescence, mitochondrial dysfunction, and DNA damage in cells with HGPS and LMNA<sup>G608G/G608G</sup> mice. Notably, LMNA<sup>G608G/G608G</sup> mice exhibited improved progeroid phenotypes, suggesting a potential therapeutic application of this approach for other diseases resulting from abnormal RNA splicing.","is_dataset_classified":null,"base_score":1.791759469228055,"endowment":1.791759469228055,"datacite_reuse_total":0,"file_count":0,"downloads":0,"views":0,"has_version_chain":false,"is_dataset":false,"is_oa":false,"pmid":"40518667","pmcid":null,"openalex_id":"https://openalex.org/W4411302158","authors":[],"funders":[{"funder_name":"Korea Ministry of Health and Welfare","grant_id":"22A0203L1","title":null},{"funder_name":"Korea Ministry of Trade Industry and Energy","grant_id":"MOTIE-20009707","title":null},{"funder_name":"Korea Research Institute of Bioscience & Biotechnology","grant_id":"KGM4252533","title":null},{"funder_name":"Korea Basic Science Institute","grant_id":"C523311","title":null},{"funder_name":"Ministry of Science and ICT, South Korea","grant_id":"GTL24021-000","title":null},{"funder_name":"National Research Foundation of Korea","grant_id":"NRF-2021R1C1C1003667","title":null},{"funder_name":"National Research Council of Science and Technology","grant_id":"","title":null}],"total_grants":7,"fwci":2.0315,"citation_percentile":0.86514588,"influential_citations":0,"citation_trend":[{"year":2025,"count":2},{"year":2026,"count":3}],"oa_status":"green","license":"cc-by-nc-nd","oa_locations":[{"url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC12432902/","host_type":"repository"},{"url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC12432902/","host_type":"repository"},{"url":"https://api.elsevier.com/content/article/PII:S152500162500468X?httpAccept=text/xml","host_type":"publisher"},{"url":"https://api.elsevier.com/content/article/PII:S152500162500468X?httpAccept=text/plain","host_type":"publisher"},{"url":"https://doi.org/10.1016/j.ymthe.2025.06.017","host_type":"journal"},{"url":"https://pubmed.ncbi.nlm.nih.gov/40518667","host_type":"repository"}],"fields_of_study":["Nuclear Structure and Function"],"mesh_terms":["Regulatory Factor X Transcription Factors","Animals","Disease Models, Animal","DNA Damage","Humans","Phenotype","Progeria","RNA Splicing","RNA, Messenger","Lamin Type A","Mice"],"keywords":["Progeria","Cancer research","Biology","Medicine","Genetics","Gene","Hutchinson-gilford Progeria Syndrome","Lamin A","Progerin","Mis-splicing","Rfxcas13d"],"sdg_mappings":[],"linked_datasets":[],"clinical_trials":[],"software_tools":[],"database_accessions":[],"source":"live","citation_network_status":"fetched"},"created_at":"2026-08-04T15:45:36.121173Z","pmid":null,"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":[]}