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Center","award":["KKEELIN15XX0"],"award-info":[{"award-number":["KKEELIN15XX0"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Mucopolysaccharidosis I-Hurler (MPS I-H) is caused by the loss of \u03b1-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 \u03b1-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\u2019s diuretic function. Triamterene represents a potential non-invasive treatment for MPS I-H patients carrying a PTC.<\/jats:p>","DOI":"10.3390\/ijms24054521","type":"journal-article","created":{"date-parts":[[2023,2,27]],"date-time":"2023-02-27T03:23:36Z","timestamp":1677468216000},"page":"4521","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Triamterene Functions as an Effective Nonsense Suppression Agent for MPS I-H (Hurler Syndrome)"],"prefix":"10.3390","volume":"24","author":[{"given":"Amna","family":"Siddiqui","sequence":"first","affiliation":[{"name":"Department of Biochemistry & Molecular Genetics, Heersink School of Medicine, University of Alabama at Birmingham, Birmingham, AL 35294, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9021-0105","authenticated-orcid":false,"given":"Halil","family":"Dundar","sequence":"additional","affiliation":[{"name":"Department of 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disease","volume":"29","author":"Mort","year":"2008","journal-title":"Hum. Mutat."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"12508","DOI":"10.1073\/pnas.1605336113","article-title":"Ataluren stimulates ribosomal selection of near-cognate tRNAs to promote nonsense suppression","volume":"113","author":"Roy","year":"2016","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"3116","DOI":"10.1093\/hmg\/ddx196","article-title":"Identification of the Amino Acids Inserted During Suppression of CFTR Nonsense Mutations and Determination of Their Functional Consequences","volume":"26","author":"Xue","year":"2017","journal-title":"Hum. Mol. Genet."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"1044","DOI":"10.1017\/S1355838200000716","article-title":"Aminoglycoside antibiotics mediate context-dependent suppression of termination codons in a mammalian translation system","volume":"6","author":"Manuvakhova","year":"2000","journal-title":"RNA"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"367","DOI":"10.1007\/s00109-001-0317-z","article-title":"Clinically relevant aminoglycosides can suppress disease-associated premature stop mutations in the IDUA and P53 cDNAs in a mammalian translation system","volume":"80","author":"Keeling","year":"2002","journal-title":"J. Mol. Med."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"683","DOI":"10.1172\/JCI28523","article-title":"Nonsense-mediated mRNA decay affects nonsense transcript levels and governs response of cystic fibrosis patients to gentamicin","volume":"117","author":"Linde","year":"2007","journal-title":"J. Clin. Investig."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"1156","DOI":"10.1038\/sj.ejhg.5201889","article-title":"The efficiency of nonsense-mediated mRNA decay is an inherent character and varies among different cells","volume":"15","author":"Linde","year":"2007","journal-title":"Eur. J. Hum. Genet."},{"key":"ref_8","doi-asserted-by":"crossref","unstructured":"Keeling, K.M., Wang, D., Dai, Y., Murugesan, S., Chenna, B., Clark, J., Belakhov, V., Kandasamy, J., Velu, S.E., and Baasov, T. (2013). Attenuation of nonsense-mediated mRNA decay enhances in vivo nonsense suppression. PLoS ONE, 8.","DOI":"10.1371\/journal.pone.0060478"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"367","DOI":"10.1016\/j.molmed.2006.06.001","article-title":"Stop-codon read-through for patients affected by a lysosomal storage disorder","volume":"12","author":"Brooks","year":"2006","journal-title":"Trends Mol. Med."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"377","DOI":"10.1016\/j.ymgme.2013.05.016","article-title":"Residual alpha-L-iduronidase activity in fibroblasts of mild to severe Mucopolysaccharidosis type I patients","volume":"109","author":"Oussoren","year":"2013","journal-title":"Mol. Genet. Metab."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"4358","DOI":"10.1038\/s41467-021-24575-x","article-title":"A small molecule that induces translational readthrough of CFTR nonsense mutations by eRF1 depletion","volume":"12","author":"Sharma","year":"2021","journal-title":"Nat. Commun."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"6583","DOI":"10.1093\/nar\/gkw638","article-title":"Novel small molecules potentiate premature termination codon readthrough by aminoglycosides","volume":"44","author":"Balgi","year":"2016","journal-title":"Nucleic Acids Res."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"3692","DOI":"10.1093\/nar\/gkab194","article-title":"Effect of small molecule eRF3 degraders on premature termination codon readthrough","volume":"49","author":"Balgi","year":"2021","journal-title":"Nucleic Acids Res."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"1367","DOI":"10.1126\/science.274.5291.1367","article-title":"Structure of the A site of Escherichia coli 16S ribosomal RNA complexed with an aminoglycoside antibiotic","volume":"274","author":"Fourmy","year":"1996","journal-title":"Science"},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"6437","DOI":"10.1093\/emboj\/17.22.6437","article-title":"Structural origins of gentamicin antibiotic action","volume":"17","author":"Yoshizawa","year":"1998","journal-title":"EMBO J."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"3133","DOI":"10.1093\/emboj\/18.11.3133","article-title":"Basis for prokaryotic specificity of action of aminoglycoside antibiotics","volume":"18","author":"Recht","year":"1999","journal-title":"EMBO J."},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"1722","DOI":"10.1126\/science.285.5434.1722","article-title":"Recognition of the codon-anticodon helix by ribosomal RNA","volume":"285","author":"Yoshizawa","year":"1999","journal-title":"Science"},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"62","DOI":"10.1016\/j.ymgme.2009.08.002","article-title":"Characterization of an MPS I-H knock-in mouse that carries a nonsense mutation analogous to the human IDUA-W402X mutation","volume":"99","author":"Wang","year":"2010","journal-title":"Mol. Genet. Metab."},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"374","DOI":"10.1016\/j.ymgme.2013.12.007","article-title":"Long-term nonsense suppression therapy moderates MPS I-H disease progression","volume":"111","author":"Gunn","year":"2013","journal-title":"Mol. Genet. Metab."},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"116","DOI":"10.1016\/j.ymgme.2011.10.005","article-title":"The designer aminoglycoside NB84 significantly reduces glycosaminoglycan accumulation associated with MPS I-H in the IDUA-W392X mouse","volume":"105","author":"Wang","year":"2012","journal-title":"Mol. Genet. Metab."},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"402","DOI":"10.1006\/meth.2001.1262","article-title":"Analysis of relative gene expression data using real-time quantitative PCR and the 2(-Delta Delta C(T)) Method","volume":"25","author":"Livak","year":"2001","journal-title":"Methods"},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"503","DOI":"10.1093\/hmg\/6.4.503","article-title":"Murine mucopolysaccharidosis type I: Targeted disruption of the murine alpha-L-iduronidase gene","volume":"6","author":"Clarke","year":"1997","journal-title":"Hum. Mol. Genet."},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"349","DOI":"10.1111\/j.1399-0004.1998.tb02745.x","article-title":"Murine MPS I: Insights into the pathogenesis of Hurler syndrome","volume":"53","author":"Russell","year":"1998","journal-title":"Clin. Genet."},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"23527","DOI":"10.1074\/jbc.R109.025049","article-title":"Epithelial Na+ channel (ENaC), hormones, and hypertension","volume":"285","author":"Bubien","year":"2010","journal-title":"J. Biol. Chem."},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"291","DOI":"10.1093\/hmg\/10.3.291","article-title":"Gentamicin-mediated suppression of Hurler syndrome stop mutations restores a low level of alpha-L-iduronidase activity and reduces lysosomal glycosaminoglycan accumulation","volume":"10","author":"Keeling","year":"2001","journal-title":"Hum. Mol. Genet."},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"839","DOI":"10.1182\/blood-2010-05-287607","article-title":"Hematopoietic differentiation of induced pluripotent stem cells from patients with mucopolysaccharidosis type I (Hurler syndrome)","volume":"117","author":"Tolar","year":"2011","journal-title":"Blood"},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1542\/peds.2008-0416","article-title":"Mucopolysaccharidosis I: Management and treatment guidelines","volume":"123","author":"Muenzer","year":"2009","journal-title":"Pediatrics"},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"219","DOI":"10.1016\/j.jpeds.2016.08.033","article-title":"Outcomes of Long-Term Treatment with Laronidase in Patients with Mucopolysaccharidosis Type I","volume":"178","author":"Laraway","year":"2016","journal-title":"J. Pediatr."},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"709","DOI":"10.1016\/S0140-6736(81)91046-1","article-title":"Reversal of clinical features of Hurler\u2019s disease and biochemical improvement after treatment by bone-marrow transplantation","volume":"2","author":"Hobbs","year":"1981","journal-title":"Lancet"},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"2164","DOI":"10.1182\/blood-2014-11-608075","article-title":"Long-term outcome of Hurler syndrome patients after hematopoietic cell transplantation: An international multicenter study","volume":"125","author":"Aldenhoven","year":"2015","journal-title":"Blood"},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"60","DOI":"10.1186\/s13023-020-01644-w","article-title":"Long term disease burden post-transplantation: Three decades of observations in 25 Hurler patients successfully treated with hematopoietic stem cell transplantation (HSCT)","volume":"16","author":"Guffon","year":"2021","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_32","doi-asserted-by":"crossref","unstructured":"Hampe, C., Wesley, J., Lund, T., Orchard, P., Polgreen, L., Eisengart, J., McLoon, L., Cureoglue, S., Schachurn, P., and McIvor, S.R. (2021). Mucopolysaccharidosis Type I: Current Treatments, Limitations, and Prospects for Improvement. Biomolecules, 11.","DOI":"10.3390\/biom11020189"},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"3558","DOI":"10.1016\/j.jmb.2016.05.025","article-title":"Connections Underlying Translation and mRNA Stability","volume":"428","author":"Radhakrishnan","year":"2016","journal-title":"J. Mol. Biol."},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"1223","DOI":"10.1007\/s00109-022-02232-0","article-title":"Ataluren suppresses a premature termination codon in an MPS I-H mouse","volume":"100","author":"Wang","year":"2022","journal-title":"J. Mol. Med."},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"6310","DOI":"10.1016\/j.bmcl.2006.09.013","article-title":"Redesign of aminoglycosides for treatment of human genetic diseases caused by premature stop mutations","volume":"16","author":"Nudelman","year":"2006","journal-title":"Bioorganic Med. Chem. Lett."},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"2318","DOI":"10.1074\/jbc.M113.533588","article-title":"Designer Aminoglycosides That Selectively Inhibit Cytoplasmic Rather than Mitochondrial Ribosomes Show Decreased Ototoxicity: A Strategy for the Treatment of Genetic Diseases","volume":"289","author":"Shulman","year":"2014","journal-title":"J. Biol. Chem."},{"key":"ref_37","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1007\/s40259-016-0157-6","article-title":"Targeting Nonsense Mutations in Diseases with Translational Read-Through-Inducing Drugs (TRIDs)","volume":"30","author":"Moller","year":"2016","journal-title":"BioDrugs"},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"1180","DOI":"10.1038\/nprot.2008.92","article-title":"Generation of human-induced pluripotent stem cells","volume":"3","author":"Park","year":"2008","journal-title":"Nat. Protoc."},{"key":"ref_39","doi-asserted-by":"crossref","first-page":"141","DOI":"10.1038\/nature06534","article-title":"Reprogramming of human somatic cells to pluripotency with defined factors","volume":"451","author":"Park","year":"2008","journal-title":"Nature"},{"key":"ref_40","first-page":"479","article-title":"A dual-luciferase reporter system for studying recoding signals","volume":"4","author":"Grentzmann","year":"1998","journal-title":"RNA"},{"key":"ref_41","doi-asserted-by":"crossref","first-page":"610","DOI":"10.1002\/cpt1977215610","article-title":"Variations in the fate of triameterene","volume":"21","author":"Pruitt","year":"1977","journal-title":"Clin. Pharmacol. Ther."},{"key":"ref_42","doi-asserted-by":"crossref","unstructured":"Yan, Z., and Caldwell, G.W. (2004). Optimization in Drug Discovery: In Vitro Methods, Humana Press.","DOI":"10.1385\/1592598005"},{"key":"ref_43","doi-asserted-by":"crossref","first-page":"862","DOI":"10.1177\/1087057108323911","article-title":"High-throughput microsomal stability assay for screening new chemical entities in drug discovery","volume":"13","author":"Fonsi","year":"2008","journal-title":"J. Biomol. Screen."},{"key":"ref_44","doi-asserted-by":"crossref","first-page":"123","DOI":"10.1016\/j.ymgme.2014.09.009","article-title":"A straightforward, quantitative ultra-performance liquid chromatography-tandem mass spectrometric method for heparan sulfate, dermatan sulfate and chondroitin sulfate in urine: An improved clinical screening test for the mucopolysaccharidoses","volume":"114","author":"Zhang","year":"2015","journal-title":"Mol. Genet. Metab."}],"container-title":["International Journal of Molecular Sciences"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/1422-0067\/24\/5\/4521\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T18:42:09Z","timestamp":1760121729000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/1422-0067\/24\/5\/4521"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,2,24]]},"references-count":44,"journal-issue":{"issue":"5","published-online":{"date-parts":[[2023,3]]}},"alternative-id":["ijms24054521"],"URL":"https:\/\/doi.org\/10.3390\/ijms24054521","relation":{},"ISSN":["1422-0067"],"issn-type":[{"value":"1422-0067","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,2,24]]}}}