{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,8]],"date-time":"2026-09-08T16:07:07Z","timestamp":1788883627192,"version":"build-2803163510"},"reference-count":49,"publisher":"Elsevier BV","issue":"3","license":[{"start":{"date-parts":[[2026,9,1]],"date-time":"2026-09-01T00:00:00Z","timestamp":1788220800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2026,9,1]],"date-time":"2026-09-01T00:00:00Z","timestamp":1788220800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2026,8,3]],"date-time":"2026-08-03T00:00:00Z","timestamp":1785715200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100004775","name":"Gansu Provincial Natural Science Foundation","doi-asserted-by":"publisher","award":["23JRRA1046"],"award-info":[{"award-number":["23JRRA1046"]}],"id":[{"id":"10.13039\/501100004775","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100016321","name":"Lanzhou University First Hospital","doi-asserted-by":"publisher","award":["ldyyn2022-75"],"award-info":[{"award-number":["ldyyn2022-75"]}],"id":[{"id":"10.13039\/501100016321","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100012899","name":"Lanzhou University","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100012899","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100009620","name":"Gansu Province Science and Technology Department","doi-asserted-by":"publisher","award":["23YFFA0005"],"award-info":[{"award-number":["23YFFA0005"]}],"id":[{"id":"10.13039\/501100009620","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["cell.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Molecular Therapy Nucleic Acids"],"published-print":{"date-parts":[[2026,9]]},"DOI":"10.1016\/j.omtn.2026.103053","type":"journal-article","created":{"date-parts":[[2026,8,4]],"date-time":"2026-08-04T23:23:10Z","timestamp":1785885790000},"page":"103053","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":0,"title":["Pharmacological readthrough and base editing for ANK1 nonsense mutations in an erythroid model of hereditary spherocytosis"],"prefix":"10.1016","volume":"37","author":[{"given":"Shan","family":"Li","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juan","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wenjing","family":"Shi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ziyan","family":"Nie","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shasha","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xue","family":"Ding","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jun","family":"Hu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peiqiang","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4895-0924","authenticated-orcid":false,"given":"Xiaodong","family":"Xie","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.omtn.2026.103053_bib1","doi-asserted-by":"crossref","first-page":"1411","DOI":"10.1016\/S0140-6736(08)61588-3","article-title":"Hereditary spherocytosis","volume":"372","author":"Perrotta","year":"2008","journal-title":"Lancet"},{"key":"10.1016\/j.omtn.2026.103053_bib2","doi-asserted-by":"crossref","DOI":"10.1002\/jcla.24034","article-title":"The diagnostic protocol for hereditary spherocytosis-2021 update","volume":"35","author":"Wu","year":"2021","journal-title":"J. Clin. Lab. Anal."},{"key":"10.1016\/j.omtn.2026.103053_bib3","doi-asserted-by":"crossref","first-page":"912","DOI":"10.1111\/bjh.18106","article-title":"Changing trends of splenectomy in hereditary spherocytosis: The experience of a reference Centre in the last 40 years","volume":"198","author":"Vercellati","year":"2022","journal-title":"Br. J. Haematol."},{"key":"10.1016\/j.omtn.2026.103053_bib4","doi-asserted-by":"crossref","first-page":"3939","DOI":"10.1182\/blood-2008-07-161166","article-title":"Red cell membrane: past, present, and future","volume":"112","author":"Mohandas","year":"2008","journal-title":"Blood"},{"key":"10.1016\/j.omtn.2026.103053_bib5","doi-asserted-by":"crossref","first-page":"1250","DOI":"10.1182\/blood.2019000946","article-title":"Red cell membrane disorders: structure meets function","volume":"136","author":"Risinger","year":"2020","journal-title":"Blood"},{"key":"10.1016\/j.omtn.2026.103053_bib6","doi-asserted-by":"crossref","first-page":"214","DOI":"10.1038\/ng0696-214","article-title":"Ankyrin-1 mutations are a major cause of dominant and recessive hereditary spherocytosis","volume":"13","author":"Eber","year":"1996","journal-title":"Nat. Genet."},{"key":"10.1016\/j.omtn.2026.103053_bib7","doi-asserted-by":"crossref","first-page":"67","DOI":"10.1111\/cge.14244","article-title":"Identification of variants in 94 Chinese patients with hereditary spherocytosis by next-generation sequencing","volume":"103","author":"Wang","year":"2023","journal-title":"Clin. Genet."},{"key":"10.1016\/j.omtn.2026.103053_bib8","doi-asserted-by":"crossref","first-page":"486","DOI":"10.1111\/bjh.16750","article-title":"Genotype-phenotype correlation in children with hereditary spherocytosis","volume":"191","author":"Tole","year":"2020","journal-title":"Br. J. Haematol."},{"key":"10.1016\/j.omtn.2026.103053_bib9","doi-asserted-by":"crossref","first-page":"278","DOI":"10.1186\/s13023-024-03290-y","article-title":"Clinical and genetic characteristics of Chinese pediatric and adult patients with hereditary spherocytosis","volume":"19","author":"Wu","year":"2024","journal-title":"Orphanet J. Rare Dis."},{"key":"10.1016\/j.omtn.2026.103053_bib10","doi-asserted-by":"crossref","first-page":"4045","DOI":"10.1007\/s00277-025-06408-9","article-title":"Three novel heterozygous ANK1 loss-of-function variants cause hereditary spherocytosis in Chinese families","volume":"104","author":"Wang","year":"2025","journal-title":"Ann. Hematol."},{"key":"10.1016\/j.omtn.2026.103053_bib11","series-title":"The mRNA Metabolism in Human Disease Advances in Experimental Medicine and Biology","first-page":"41","article-title":"Nonsense-Mediated mRNA Decay in Development, Stress and Cancer","author":"Fernandes","year":"2019"},{"key":"10.1016\/j.omtn.2026.103053_bib12","doi-asserted-by":"crossref","first-page":"297","DOI":"10.1016\/j.molmed.2023.01.004","article-title":"Readthrough compounds for nonsense mutations: bridging the translational gap","volume":"29","author":"Spelier","year":"2023","journal-title":"Trends Mol. Med."},{"key":"10.1016\/j.omtn.2026.103053_bib13","doi-asserted-by":"crossref","first-page":"988","DOI":"10.3390\/biom13060988","article-title":"Pharmaceuticals Promoting Premature Termination Codon Readthrough: Progress in Development","volume":"13","author":"Li","year":"2023","journal-title":"Biomolecules"},{"key":"10.1016\/j.omtn.2026.103053_bib14","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.omtn.2026.103053_bib15","doi-asserted-by":"crossref","first-page":"770","DOI":"10.1038\/s41576-018-0059-1","article-title":"Base editing: precision chemistry on the genome and transcriptome of living cells","volume":"19","author":"Rees","year":"2018","journal-title":"Nat. Rev. Genet."},{"key":"10.1016\/j.omtn.2026.103053_bib16","doi-asserted-by":"crossref","first-page":"1169","DOI":"10.1182\/blood.2022016629","article-title":"Adenine base editor\u2013mediated correction of the common and severe IVS1-110 (G>A) \u03b2-thalassemia mutation","volume":"141","author":"Hardouin","year":"2023","journal-title":"Blood"},{"key":"10.1016\/j.omtn.2026.103053_bib17","doi-asserted-by":"crossref","first-page":"207","DOI":"10.1038\/s41467-022-35508-7","article-title":"Therapeutic adenine base editing of human hematopoietic stem cells","volume":"14","author":"Liao","year":"2023","journal-title":"Nat. Commun."},{"key":"10.1016\/j.omtn.2026.103053_bib18","doi-asserted-by":"crossref","first-page":"812","DOI":"10.1182\/blood.2022019333","article-title":"Lipid nanoparticles allow efficient and harmless ex vivo gene editing of human hematopoietic cells","volume":"142","author":"Vavassori","year":"2023","journal-title":"Blood"},{"key":"10.1016\/j.omtn.2026.103053_bib19","doi-asserted-by":"crossref","first-page":"4454","DOI":"10.1111\/jcmm.14343","article-title":"Two novel ANK1 loss-of-function mutations in Chinese families with hereditary spherocytosis","volume":"23","author":"Hao","year":"2019","journal-title":"J. Cell Mol. Med."},{"key":"10.1016\/j.omtn.2026.103053_bib20","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1111\/boc.201500058","article-title":"Hemin induces mitophagy in a leukemic erythroblast cell line","volume":"108","author":"Fader","year":"2016","journal-title":"Biol. Cell"},{"key":"10.1016\/j.omtn.2026.103053_bib21","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":"Baradaran-Heravi","year":"2016","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.omtn.2026.103053_bib22","first-page":"5364","article-title":"Synonymous ADAMTS13 variants impact molecular characteristics and contribute to variability in active protein abundance","volume":"6","author":"Jankowska","year":"2022","journal-title":"Blood Adv."},{"key":"10.1016\/j.omtn.2026.103053_bib23","doi-asserted-by":"crossref","first-page":"725","DOI":"10.1038\/s41586-022-04823-w","article-title":"Synonymous mutations in representative yeast genes are mostly strongly non-neutral","volume":"606","author":"Shen","year":"2022","journal-title":"Nature"},{"key":"10.1016\/j.omtn.2026.103053_bib24","doi-asserted-by":"crossref","first-page":"648","DOI":"10.1007\/s13577-024-01034-5","article-title":"Saracatinib prompts hemin-induced K562 erythroid differentiation but suppresses erythropoiesis of hematopoietic stem cells","volume":"37","author":"Ding","year":"2024","journal-title":"Hum. Cell"},{"key":"10.1016\/j.omtn.2026.103053_bib25","doi-asserted-by":"crossref","first-page":"1959","DOI":"10.3390\/antiox11101959","article-title":"Glutathione\u2013Hemin\/Hematin Adduct Formation to Disintegrate Cytotoxic Oxidant Hemin\/Hematin in Human K562 Cells and Red Blood Cells\u2019 Hemolysates: Impact of Glutathione on the Hemolytic Disorders and Homeostasis","volume":"11","author":"Georgiou-Siafis","year":"2022","journal-title":"Antioxidants"},{"key":"10.1016\/j.omtn.2026.103053_bib26","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1186\/s10020-018-0024-7","article-title":"Advances in therapeutic use of a drug-stimulated translational readthrough of premature termination codons","volume":"24","author":"Dabrowski","year":"2018","journal-title":"Mol. Med."},{"key":"10.1016\/j.omtn.2026.103053_bib27","doi-asserted-by":"crossref","first-page":"1489","DOI":"10.1016\/S0140-6736(17)31611-2","article-title":"Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial","volume":"390","author":"McDonald","year":"2017","journal-title":"Lancet"},{"key":"10.1016\/j.omtn.2026.103053_bib28","doi-asserted-by":"crossref","first-page":"3028","DOI":"10.1172\/JCI92707","article-title":"Gentamicin induces functional type VII collagen in recessive dystrophic epidermolysis bullosa patients","volume":"127","author":"Woodley","year":"2017","journal-title":"J. Clin. Investig."},{"key":"10.1016\/j.omtn.2026.103053_bib29","series-title":"Translarna: EMA Re-confirms Non-renewal of Authorisation of Duchenne Muscular Dystrophy Medicine","year":"2024"},{"key":"10.1016\/j.omtn.2026.103053_bib30","doi-asserted-by":"crossref","DOI":"10.1073\/pnas.2020599118","article-title":"Ataluren and aminoglycosides stimulate read-through of nonsense codons by orthogonal mechanisms","volume":"118","author":"Ng","year":"2021","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"10.1016\/j.omtn.2026.103053_bib31","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":"10.1016\/j.omtn.2026.103053_bib32","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":"Baradaran-Heravi","year":"2021","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.omtn.2026.103053_bib33","doi-asserted-by":"crossref","DOI":"10.1172\/jci.insight.162939","article-title":"In vivo base editing by a single i.v. vector injection for treatment of hemoglobinopathies","volume":"7","author":"Li","year":"2022","journal-title":"JCI Insight"},{"key":"10.1016\/j.omtn.2026.103053_bib34","doi-asserted-by":"crossref","first-page":"6900","DOI":"10.1038\/s41467-022-34479-z","article-title":"Adenine base editing efficiently restores the function of Fanconi anemia hematopoietic stem and progenitor cells","volume":"13","author":"Siegner","year":"2022","journal-title":"Nat. Commun."},{"key":"10.1016\/j.omtn.2026.103053_bib35","first-page":"1","article-title":"Improved specificity and efficiency of in vivo adenine base editing therapies with hybrid guide RNAs","author":"Whittaker","year":"2025","journal-title":"Nat. Biomed. Eng."},{"key":"10.1016\/j.omtn.2026.103053_bib36","doi-asserted-by":"crossref","first-page":"907","DOI":"10.1038\/s41573-025-01236-y","article-title":"CRISPR-based therapeutic genome editing for inherited blood disorders","volume":"24","author":"Levesque","year":"2025","journal-title":"Nat. Rev. Drug Discov."},{"key":"10.1016\/j.omtn.2026.103053_bib37","doi-asserted-by":"crossref","first-page":"3205","DOI":"10.1016\/j.ymthe.2021.09.001","article-title":"Understanding and overcoming adverse consequences of genome editing on hematopoietic stem and progenitor cells","volume":"29","author":"Lee","year":"2021","journal-title":"Mol. Ther."},{"key":"10.1016\/j.omtn.2026.103053_bib38","doi-asserted-by":"crossref","DOI":"10.3389\/fgeed.2023.1148693","article-title":"Current approaches and potential challenges in the delivery of gene editing cargos into hematopoietic stem and progenitor cells","volume":"5","author":"Murugesan","year":"2023","journal-title":"Front. Genome Ed."},{"key":"10.1016\/j.omtn.2026.103053_bib39","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.omtn.2026.103053_bib40","doi-asserted-by":"crossref","first-page":"1136","DOI":"10.1182\/blood.V96.3.1136","article-title":"The human ankyrin-1 gene is selectively transcribed in erythroid cell lines despite the presence of a housekeeping-like promoter","volume":"96","author":"Gallagher","year":"2000","journal-title":"Blood"},{"key":"10.1016\/j.omtn.2026.103053_bib41","doi-asserted-by":"crossref","first-page":"3586","DOI":"10.1182\/blood-2012-08-450262","article-title":"A tissue-specific chromatin loop activates the erythroid ankyrin-1 promoter","volume":"120","author":"Yocum","year":"2012","journal-title":"Blood"},{"key":"10.1016\/j.omtn.2026.103053_bib42","doi-asserted-by":"crossref","first-page":"67","DOI":"10.1038\/s41467-018-07988-z","article-title":"Genome-wide profiling of adenine base editor specificity by EndoV-seq","volume":"10","author":"Liang","year":"2019","journal-title":"Nat. Commun."},{"key":"10.1016\/j.omtn.2026.103053_bib43","doi-asserted-by":"crossref","DOI":"10.1038\/s41587-025-02948-7","article-title":"Sensitive and unbiased genome-wide profiling of base-editor-induced off-target activity using CHANGE-seq-BE","author":"Lazzarotto","year":"2026","journal-title":"Nat. Biotechnol."},{"key":"10.1016\/j.omtn.2026.103053_bib44","doi-asserted-by":"crossref","DOI":"10.1093\/nar\/gkaf281","article-title":"Selict-seq profiles genome-wide off-target effects in adenosine base editing","volume":"53","author":"Yuan","year":"2025","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.omtn.2026.103053_bib45","doi-asserted-by":"crossref","first-page":"1914","DOI":"10.1038\/s41588-024-01878-5","article-title":"Genome-scale quantification and prediction of pathogenic stop codon readthrough by small molecules","volume":"56","author":"Toledano","year":"2024","journal-title":"Nat. Genet."},{"key":"10.1016\/j.omtn.2026.103053_bib46","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":"10.1016\/j.omtn.2026.103053_bib47","doi-asserted-by":"crossref","first-page":"496","DOI":"10.1136\/gut.2008.169805","article-title":"Restoration of APC gene function in colorectal cancer cells by aminoglycoside- and macrolide-induced read-through of premature termination codons","volume":"59","author":"Zilberberg","year":"2010","journal-title":"Gut"},{"key":"10.1016\/j.omtn.2026.103053_bib48","doi-asserted-by":"crossref","first-page":"1653","DOI":"10.1038\/mt.2013.150","article-title":"A new series of small molecular weight compounds induce read through of all three types of nonsense mutations in the ATM gene","volume":"21","author":"Du","year":"2013","journal-title":"Mol. Ther."},{"key":"10.1016\/j.omtn.2026.103053_bib49","doi-asserted-by":"crossref","DOI":"10.7554\/eLife.52611","article-title":"Stop codon context influences genome-wide stimulation of termination codon readthrough by aminoglycosides","volume":"9","author":"Wangen","year":"2020","journal-title":"eLife"}],"container-title":["Molecular Therapy Nucleic Acids"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2162253126002246?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2162253126002246?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2026,9,8]],"date-time":"2026-09-08T15:11:10Z","timestamp":1788880270000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S2162253126002246"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,9]]},"references-count":49,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2026,9]]}},"alternative-id":["S2162253126002246"],"URL":"https:\/\/doi.org\/10.1016\/j.omtn.2026.103053","relation":{},"ISSN":["2162-2531"],"issn-type":[{"value":"2162-2531","type":"print"}],"subject":[],"published":{"date-parts":[[2026,9]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Pharmacological readthrough and base editing for ANK1 nonsense mutations in an erythroid model of hereditary spherocytosis","name":"articletitle","label":"Article Title"},{"value":"Molecular Therapy Nucleic Acids","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.omtn.2026.103053","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2026 The Authors. Published by Elsevier Inc. on behalf of The American Society of Gene and Cell Therapy.","name":"copyright","label":"Copyright"}],"article-number":"103053"}}