{"doi":"10.3390/ijms24054521","title":"Triamterene Functions as an Effective Nonsense Suppression Agent for MPS I-H (Hurler Syndrome)","abstract":"Mucopolysaccharidosis I-Hurler (MPS I-H) is caused by the loss of α-L-iduronidase, a lysosomal enzyme that degrades glycosaminoglycans. Current therapies cannot treat many MPS I-H manifestations. In this study, triamterene, an FDA-approved, antihypertensive diuretic, was found to suppress translation termination at a nonsense mutation associated with MPS I-H. Triamterene rescued enough α-L-iduronidase function to normalize glycosaminoglycan storage in cell and animal models. This new function of triamterene operates through premature termination codon (PTC) dependent mechanisms that are unaffected by epithelial sodium channel activity, the target of triamterene's diuretic function. Triamterene represents a potential non-invasive treatment for MPS I-H patients carrying a PTC.","journal":"International Journal of Molecular Sciences","year":2023,"id":379528,"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":0.9503,"is_data_producer":false,"deposit_databanks":null,"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2023-01-01","fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":1144268,"name":"Halil Dündar","orcid":"0000-0001-9021-0105","position":1,"is_corresponding":false},{"id":426130,"name":"Jyoti Sharma","orcid":"0000-0002-5666-8996","position":2,"is_corresponding":false},{"id":375300,"name":"Aneta Kaczmarczyk","orcid":null,"position":3,"is_corresponding":false},{"id":382061,"name":"Josh Echols","orcid":null,"position":4,"is_corresponding":false},{"id":382063,"name":"Yanying Dai","orcid":null,"position":5,"is_corresponding":false},{"id":524567,"name":"Chuanxi Sun","orcid":null,"position":6,"is_corresponding":false},{"id":631073,"name":"Ming Du","orcid":"0009-0001-9657-9306","position":7,"is_corresponding":false},{"id":1144269,"name":"Zhong Liu","orcid":"0000-0001-8173-9656","position":8,"is_corresponding":false},{"id":88476,"name":"Rui Zhao","orcid":"0000-0003-3769-6550","position":9,"is_corresponding":false},{"id":505443,"name":"Tim Wood","orcid":null,"position":10,"is_corresponding":false},{"id":1144730,"name":"S K Sanders","orcid":null,"position":11,"is_corresponding":false},{"id":287612,"name":"Lynn Rasmussen","orcid":"0000-0001-6211-2364","position":12,"is_corresponding":false},{"id":924122,"name":"J. Robert Bostwick","orcid":null,"position":13,"is_corresponding":false},{"id":351701,"name":"Corinne E. Augelli‐Szafran","orcid":"0000-0002-7676-6120","position":14,"is_corresponding":false},{"id":371848,"name":"Mark J. Suto","orcid":"0000-0003-0876-1210","position":15,"is_corresponding":false},{"id":263850,"name":"Steven M. Rowe","orcid":"0000-0001-9045-0133","position":16,"is_corresponding":false},{"id":631078,"name":"David M. Bedwell","orcid":"0000-0002-6605-818X","position":17,"is_corresponding":false},{"id":380669,"name":"Kim M. Keeling","orcid":"0000-0003-0471-5858","position":18,"is_corresponding":false},{"id":382062,"name":"Amna Siddiqui","orcid":null,"position":0,"is_corresponding":true}],"reference_count":46,"raw_metadata":null,"created_at":"2026-07-19T01:16:56.650289Z","pmid":"36901952","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":[]}