{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T19:45:40Z","timestamp":1792179940568,"version":"4.4.0"},"reference-count":45,"publisher":"Elsevier BV","issue":"4","license":[{"start":{"date-parts":[[2023,4,1]],"date-time":"2023-04-01T00:00:00Z","timestamp":1680307200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2023,4,1]],"date-time":"2023-04-01T00:00:00Z","timestamp":1680307200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2023,1,24]],"date-time":"2023-01-24T00:00:00Z","timestamp":1674518400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["cell.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Molecular Therapy"],"published-print":{"date-parts":[[2023,4]]},"DOI":"10.1016\/j.ymthe.2023.01.014","type":"journal-article","created":{"date-parts":[[2023,1,14]],"date-time":"2023-01-14T02:02:18Z","timestamp":1673661738000},"page":"970-985","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":28,"title":["Use of 2,6-diaminopurine as a potent suppressor of UGA premature stop codons in cystic fibrosis"],"prefix":"10.1016","volume":"31","author":[{"given":"Catherine","family":"Leroy","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sacha","family":"Spelier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nad\u00e8ge Charlene","family":"Essonghe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Virginie","family":"Poix","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rebekah","family":"Kong","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patrick","family":"Gizzi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claire","family":"Bourban","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S\u00e9verine","family":"Amand","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christine","family":"Bailly","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Romain","family":"Guilbert","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Hannebique","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Philippe","family":"Persoons","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gwena\u00eblle","family":"Arhant","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne","family":"Pr\u00e9votat","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Philippe","family":"Reix","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dominique","family":"Hubert","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mich\u00e8le","family":"G\u00e9rardin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mathias","family":"Chamaillard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Natalia","family":"Prevarskaya","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sylvie","family":"Rebuffat","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"George","family":"Shapovalov","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeffrey","family":"Beekman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fabrice","family":"Lejeune","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ymthe.2023.01.014_bib1","doi-asserted-by":"crossref","first-page":"1037","DOI":"10.1002\/humu.20763","article-title":"A meta-analysis of nonsense mutations causing human genetic disease","volume":"29","author":"Mort","year":"2008","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.ymthe.2023.01.014_bib2","doi-asserted-by":"crossref","first-page":"39","DOI":"10.1007\/s11033-017-4139-7","article-title":"Upf proteins: highly conserved factors involved in nonsense mRNA mediated decay","volume":"45","author":"Gupta","year":"2018","journal-title":"Mol. Biol. Rep."},{"key":"10.1016\/j.ymthe.2023.01.014_bib3","doi-asserted-by":"crossref","first-page":"175","DOI":"10.5483\/BMBRep.2017.50.4.015","article-title":"Nonsense-mediated mRNA decay at the crossroads of many cellular pathways","volume":"50","author":"Lejeune","year":"2017","journal-title":"BMB Rep."},{"key":"10.1016\/j.ymthe.2023.01.014_bib4","doi-asserted-by":"crossref","first-page":"461","DOI":"10.1242\/jcs.181008","article-title":"Nonsense-mediated mRNA decay in humans at a glance","volume":"129","author":"Kurosaki","year":"2016","journal-title":"J.\u00a0Cell Sci. Feb"},{"key":"10.1016\/j.ymthe.2023.01.014_bib5","doi-asserted-by":"crossref","first-page":"661","DOI":"10.1002\/wrna.1357","article-title":"Nonsense-mediated mRNA decay: novel mechanistic insights and biological impact","volume":"7","author":"Karousis","year":"2016","journal-title":"Wiley Interdiscip. Rev. RNA"},{"key":"10.1016\/j.ymthe.2023.01.014_bib6","doi-asserted-by":"crossref","first-page":"1483","DOI":"10.1093\/nar\/gkw010","article-title":"Mechanism and regulation of the nonsense-mediated decay pathway","volume":"44","author":"Hug","year":"2016","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.ymthe.2023.01.014_bib7","doi-asserted-by":"crossref","first-page":"72","DOI":"10.1186\/s12943-021-01364-0","article-title":"Nonsense-mediated RNA decay and its bipolar function in cancer","volume":"20","author":"Nogueira","year":"2021","journal-title":"Mol. Cancer"},{"key":"10.1016\/j.ymthe.2023.01.014_bib8","doi-asserted-by":"crossref","first-page":"1145","DOI":"10.1083\/jcb.200611086","article-title":"Inhibition of nonsense-mediated mRNA decay (NMD) by a new chemical molecule reveals the dynamic of NMD factors in P-bodies","volume":"178","author":"Durand","year":"2007","journal-title":"J.\u00a0Cell Biol."},{"key":"10.1016\/j.ymthe.2023.01.014_bib9","doi-asserted-by":"crossref","first-page":"23613","DOI":"10.1074\/jbc.M109.009985","article-title":"Inhibition of nonsense-mediated mRNA decay by the natural product pateamine A through eukaryotic initiation factor 4AIII","volume":"284","author":"Dang","year":"2009","journal-title":"J.\u00a0Biol. Chem."},{"key":"10.1016\/j.ymthe.2023.01.014_bib10","doi-asserted-by":"crossref","first-page":"1593","DOI":"10.15252\/emmm.201404461","article-title":"5-azacytidine inhibits nonsense-mediated decay in a MYC-dependent fashion","volume":"6","author":"Bhuvanagiri","year":"2014","journal-title":"EMBO Mol. Med."},{"key":"10.1016\/j.ymthe.2023.01.014_bib11","doi-asserted-by":"crossref","first-page":"3104","DOI":"10.1158\/0008-5472.CAN-13-2235","article-title":"Identification and characterization of small molecules that inhibit nonsense mediated RNA decay and suppress nonsense p53 mutations","volume":"74","author":"Martin","year":"2014","journal-title":"Cancer Res."},{"key":"10.1016\/j.ymthe.2023.01.014_bib12","doi-asserted-by":"crossref","first-page":"1559","DOI":"10.1039\/C5OB02482J","article-title":"Synthesis and activity of a novel inhibitor of nonsense-mediated mRNA decay","volume":"14","author":"Gotham","year":"2016","journal-title":"Org. Biomol. Chem."},{"key":"10.1016\/j.ymthe.2023.01.014_bib13","doi-asserted-by":"crossref","first-page":"740","DOI":"10.1002\/ana.20107","article-title":"Inhibition of nonsense-mediated mRNA decay rescues the phenotype in Ullrich's disease","volume":"55","author":"Usuki","year":"2004","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.ymthe.2023.01.014_bib14","doi-asserted-by":"crossref","first-page":"145","DOI":"10.1186\/s13578-021-00662-w","article-title":"Potential of helper-dependent Adenoviral vectors in CRISPR-cas9-mediated lung gene therapy","volume":"11","author":"Bandara","year":"2021","journal-title":"Cell Biosci."},{"key":"10.1016\/j.ymthe.2023.01.014_bib15","doi-asserted-by":"crossref","first-page":"10558","DOI":"10.1093\/nar\/gkab788","article-title":"Functional correction of CFTR mutations in human airway epithelial cells using adenine base editors","volume":"49","author":"Krishnamurthy","year":"2021","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.ymthe.2023.01.014_bib16","doi-asserted-by":"crossref","first-page":"181","DOI":"10.1016\/j.jcf.2021.05.014","article-title":"Comparison of Cas9 and Cas12a CRISPR editing methods to correct the W1282X-CFTR mutation","volume":"21","author":"Santos","year":"2021","journal-title":"J.\u00a0Cyst Fibros"},{"key":"10.1016\/j.ymthe.2023.01.014_bib17","doi-asserted-by":"crossref","first-page":"1118","DOI":"10.1016\/j.omtm.2020.05.002","article-title":"Allele-specific prevention of nonsense-mediated decay in cystic fibrosis using homology-independent genome editing","volume":"17","author":"Erwood","year":"2020","journal-title":"Mol. Ther. Methods Clin. Dev."},{"key":"10.1016\/j.ymthe.2023.01.014_bib18","doi-asserted-by":"crossref","DOI":"10.1073\/pnas.2114886119","article-title":"Open reading frame correction using splice-switching antisense oligonucleotides for the treatment of cystic fibrosis","volume":"119","author":"Michaels","year":"2022","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"10.1016\/j.ymthe.2023.01.014_bib19","article-title":"Exon-skipping antisense oligonucleotides for cystic fibrosis therapy","volume":"119","author":"Kim","year":"2022","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"10.1016\/j.ymthe.2023.01.014_bib20","doi-asserted-by":"crossref","first-page":"630","DOI":"10.1016\/j.jcf.2021.12.012","article-title":"Antisense oligonucleotide splicing modulation as a novel Cystic Fibrosis therapeutic approach for the W1282X nonsense mutation","volume":"21","author":"Oren","year":"2021","journal-title":"J.\u00a0Cyst Fibros"},{"key":"10.1016\/j.ymthe.2023.01.014_bib21","doi-asserted-by":"crossref","first-page":"310","DOI":"10.1111\/brv.12657","article-title":"Deciphering the molecular mechanism of stop codon readthrough","volume":"96","author":"Palma","year":"2021","journal-title":"Biol. Rev. Camb Philos. Soc."},{"key":"10.1016\/j.ymthe.2023.01.014_bib22","doi-asserted-by":"crossref","first-page":"4677","DOI":"10.1007\/s00018-021-03809-7","article-title":"Nonsense suppression therapies in human genetic diseases","volume":"78","author":"Martins-Dias","year":"2021","journal-title":"Cell Mol. Life Sci."},{"key":"10.1016\/j.ymthe.2023.01.014_bib23","doi-asserted-by":"crossref","first-page":"11972","DOI":"10.3390\/ijms222111972","article-title":"Comprehensive analysis of combinatorial pharmacological treatments to correct nonsense mutations in the CFTR gene","volume":"22","author":"Venturini","year":"2021","journal-title":"Int. J. Mol. Sci."},{"key":"10.1016\/j.ymthe.2023.01.014_bib24","doi-asserted-by":"crossref","first-page":"58","DOI":"10.1186\/1750-1172-7-58","article-title":"Rescue of nonsense mutations by amlexanox in human cells","volume":"7","author":"Gonzalez-Hilarion","year":"2012","journal-title":"Orphanet J. Rare Dis."},{"key":"10.1016\/j.ymthe.2023.01.014_bib25","doi-asserted-by":"crossref","first-page":"e0223954","DOI":"10.1371\/journal.pone.0223954","article-title":"The novel aminoglycoside, ELX-02, permits CTNSW138X translational read-through and restores lysosomal cystine efflux in cystinosis","volume":"14","author":"Brasell","year":"2019","journal-title":"PLoS One"},{"key":"10.1016\/j.ymthe.2023.01.014_bib26","doi-asserted-by":"crossref","first-page":"87","DOI":"10.1038\/nature05756","article-title":"PTC124 targets genetic disorders caused by nonsense mutations","volume":"447","author":"Welch","year":"2007","journal-title":"Nature"},{"key":"10.1016\/j.ymthe.2023.01.014_bib27","doi-asserted-by":"crossref","first-page":"246","DOI":"10.1016\/j.jcf.2021.09.020","article-title":"Functional restoration of CFTR nonsense mutations in intestinal organoids","volume":"21","author":"de Poel","year":"2021","journal-title":"J.\u00a0Cyst Fibros"},{"key":"10.1016\/j.ymthe.2023.01.014_bib28","doi-asserted-by":"crossref","first-page":"595","DOI":"10.1016\/j.jcf.2020.01.007","article-title":"Efficacy and safety of ataluren in patients with nonsense-mutation cystic fibrosis not receiving chronic inhaled aminoglycosides: the international, randomized, double-blind, placebo-controlled Ataluren Confirmatory Trial in Cystic Fibrosis (ACT CF)","volume":"19","author":"Konstan","year":"2020","journal-title":"J.\u00a0Cyst Fibros."},{"key":"10.1016\/j.ymthe.2023.01.014_bib29","doi-asserted-by":"crossref","first-page":"1509","DOI":"10.1038\/s41467-020-15140-z","article-title":"2,6-Diaminopurine as a highly potent corrector of UGA nonsense mutations","volume":"11","author":"Trzaska","year":"2020","journal-title":"Nat. Commun."},{"key":"10.1016\/j.ymthe.2023.01.014_bib30","doi-asserted-by":"crossref","first-page":"5166","DOI":"10.1073\/pnas.85.14.5166","article-title":"Site-specific DNA recombination in mammalian cells by the Cre recombinase of bacteriophage P1","volume":"85","author":"Sauer","year":"1988","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"10.1016\/j.ymthe.2023.01.014_bib31","doi-asserted-by":"crossref","first-page":"1083","DOI":"10.1126\/science.257.5073.1083","article-title":"An animal model for cystic fibrosis made by gene targeting","volume":"257","author":"Snouwaert","year":"1992","journal-title":"Science"},{"key":"10.1016\/j.ymthe.2023.01.014_bib32","doi-asserted-by":"crossref","first-page":"e0199573","DOI":"10.1371\/journal.pone.0199573","article-title":"A G542X cystic fibrosis mouse model for examining nonsense mutation directed therapies","volume":"13","author":"McHugh","year":"2018","journal-title":"PLoS One"},{"key":"10.1016\/j.ymthe.2023.01.014_bib33","doi-asserted-by":"crossref","first-page":"1191","DOI":"10.1177\/002215540305100909","article-title":"Applicability of different antibodies for the immunohistochemical localization of CFTR in respiratory and intestinal tissues of human and murine origin","volume":"51","author":"Doucet","year":"2003","journal-title":"J.\u00a0Histochem. Cytochem."},{"key":"10.1016\/j.ymthe.2023.01.014_bib34","doi-asserted-by":"crossref","first-page":"407","DOI":"10.1038\/s41568-018-0007-6","article-title":"Organoids in cancer research","volume":"18","author":"Drost","year":"2018","journal-title":"Nat. Rev. Cancer"},{"key":"10.1016\/j.ymthe.2023.01.014_bib35","doi-asserted-by":"crossref","first-page":"939","DOI":"10.1038\/nm.3201","article-title":"A functional CFTR assay using primary cystic fibrosis intestinal organoids","volume":"19","author":"Dekkers","year":"2013","journal-title":"Nat. Med."},{"key":"10.1016\/j.ymthe.2023.01.014_bib36","doi-asserted-by":"crossref","first-page":"1056","DOI":"10.1172\/JCI73193","article-title":"Defective goblet cell exocytosis contributes to murine cystic fibrosis-associated intestinal disease","volume":"125","author":"Liu","year":"2015","journal-title":"J.\u00a0Clin. Invest."},{"key":"10.1016\/j.ymthe.2023.01.014_bib37","doi-asserted-by":"crossref","first-page":"861","DOI":"10.1089\/10430349950018274","article-title":"Fluorescent chloride indicators to assess the efficacy of CFTR cDNA delivery","volume":"10","author":"Mansoura","year":"1999","journal-title":"Hum. Gene Ther."},{"key":"10.1016\/j.ymthe.2023.01.014_bib38","doi-asserted-by":"crossref","first-page":"1685","DOI":"10.1056\/NEJM199012133232407","article-title":"Two patients with cystic fibrosis, nonsense mutations in each cystic fibrosis gene, and mild pulmonary disease","volume":"323","author":"Cutting","year":"1990","journal-title":"N.\u00a0Engl. J. Med."},{"key":"10.1016\/j.ymthe.2023.01.014_bib39","doi-asserted-by":"crossref","first-page":"8447","DOI":"10.1073\/pnas.87.21.8447","article-title":"Identification of mutations in regions corresponding to the two putative nucleotide (ATP)-binding folds of the cystic fibrosis gene","volume":"87","author":"Kerem","year":"1990","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"10.1016\/j.ymthe.2023.01.014_bib40","first-page":"L692","article-title":"CFTR channels in immortalized human airway cells","volume":"263","author":"Haws","year":"1992","journal-title":"Am. J. Physiol."},{"key":"10.1016\/j.ymthe.2023.01.014_bib41","doi-asserted-by":"crossref","first-page":"S23","DOI":"10.1152\/physrev.1999.79.1.S23","article-title":"Structure and function of the CFTR chloride channel","volume":"79","author":"Sheppard","year":"1999","journal-title":"Physiol. Rev."},{"key":"10.1016\/j.ymthe.2023.01.014_bib42","doi-asserted-by":"crossref","first-page":"1398","DOI":"10.1016\/S0006-3495(94)80930-0","article-title":"Effect of ATP concentration on CFTR Cl- channels: a kinetic analysis of channel regulation","volume":"66","author":"Winter","year":"1994","journal-title":"Biophys. J."},{"key":"10.1016\/j.ymthe.2023.01.014_bib43","doi-asserted-by":"crossref","first-page":"167","DOI":"10.1002\/humu.1380040302","article-title":"Population variation of common cystic fibrosis mutations. The cystic fibrosis genetic analysis consortium","volume":"4","year":"1994","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.ymthe.2023.01.014_bib44","doi-asserted-by":"crossref","first-page":"319","DOI":"10.1007\/978-1-62703-125-7_19","article-title":"Primary mouse small intestinal epithelial cell cultures","volume":"945","author":"Sato","year":"2013","journal-title":"Methods Mol. Biol."},{"key":"10.1016\/j.ymthe.2023.01.014_bib45","doi-asserted-by":"crossref","first-page":"100019","DOI":"10.1016\/j.xpro.2020.100019","article-title":"Protocol for application, standardization and validation of the forskolin-induced swelling assay in cystic fibrosis human colon organoids","volume":"1","author":"Vonk","year":"2020","journal-title":"STAR Protoc."}],"container-title":["Molecular Therapy"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S152500162300014X?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S152500162300014X?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,26]],"date-time":"2025-10-26T18:06:58Z","timestamp":1761502018000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S152500162300014X"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,4]]},"references-count":45,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2023,4]]}},"alternative-id":["S152500162300014X"],"URL":"https:\/\/doi.org\/10.1016\/j.ymthe.2023.01.014","relation":{},"ISSN":["1525-0016"],"issn-type":[{"value":"1525-0016","type":"print"}],"subject":[],"published":{"date-parts":[[2023,4]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Use of 2,6-diaminopurine as a potent suppressor of UGA premature stop codons in cystic fibrosis","name":"articletitle","label":"Article Title"},{"value":"Molecular Therapy","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ymthe.2023.01.014","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2023 The Authors.","name":"copyright","label":"Copyright"}]}}