{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,30]],"date-time":"2026-10-30T15:31:49Z","timestamp":1793374309219,"version":"4.5.0"},"reference-count":22,"publisher":"Elsevier BV","issue":"1","license":[{"start":{"date-parts":[[2024,1,1]],"date-time":"2024-01-01T00:00:00Z","timestamp":1704067200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2024,1,1]],"date-time":"2024-01-01T00:00:00Z","timestamp":1704067200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2023,10,19]],"date-time":"2023-10-19T00:00:00Z","timestamp":1697673600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100000001","name":"National Science Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000001","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["R01-HL148769"],"award-info":[{"award-number":["R01-HL148769"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["R35-HL145203"],"award-info":[{"award-number":["R35-HL145203"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["U19-NS132301"],"award-info":[{"award-number":["U19-NS132301"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000968","name":"American Heart Association","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000968","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["cell.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Human Genetics and Genomics Advances"],"published-print":{"date-parts":[[2024,1]]},"DOI":"10.1016\/j.xhgg.2023.100253","type":"journal-article","created":{"date-parts":[[2023,11,2]],"date-time":"2023-11-02T18:06:46Z","timestamp":1698948406000},"page":"100253","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":17,"title":["A base editing strategy using mRNA-LNPs for in\u00a0vivo correction of the most frequent phenylketonuria variant"],"prefix":"10.1016","volume":"5","author":[{"given":"Dominique L.","family":"Brooks","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Madelynn N.","family":"Whittaker","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hooda","family":"Said","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Garima","family":"Dwivedi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ping","family":"Qu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3298-0368","authenticated-orcid":false,"given":"Kiran","family":"Musunuru","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rebecca C.","family":"Ahrens-Nicklas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohamad-Gabriel","family":"Alameh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiao","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.xhgg.2023.100253_bib1","doi-asserted-by":"crossref","first-page":"188","DOI":"10.1038\/gim.2013.157","article-title":"Phenylalanine hydroxylase deficiency: diagnosis and management guideline","volume":"16","author":"Vockley","year":"2014","journal-title":"Genet. Med."},{"key":"10.1016\/j.xhgg.2023.100253_bib2","doi-asserted-by":"crossref","first-page":"190","DOI":"10.1016\/j.ymgme.2017.01.001","article-title":"Adherence to clinic recommendations among patients with phenylketonuria in the United States","volume":"120","author":"Jurecki","year":"2017","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.xhgg.2023.100253_bib3","doi-asserted-by":"crossref","first-page":"234","DOI":"10.1016\/j.ajhg.2020.06.006","article-title":"The genetic landscape and epidemiology of phenylketonuria","volume":"107","author":"Hillert","year":"2020","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.xhgg.2023.100253_bib4","doi-asserted-by":"crossref","DOI":"10.1016\/j.ajhg.2023.10.005","article-title":"Efficient in vivo prime editing corrects the most frequent phenylketonuria variant, associated with high unmet medical need","author":"Brooks","year":"2023","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.xhgg.2023.100253_bib5","first-page":"101","article-title":"Influence of PAH genotype on sapropterin response in PKU: results of a single-center cohort study","volume":"13","author":"Leuders","year":"2014","journal-title":"JIMD Rep."},{"key":"10.1016\/j.xhgg.2023.100253_bib6","doi-asserted-by":"crossref","first-page":"239","DOI":"10.1016\/j.ymgme.2020.06.006","article-title":"Pegvaliase for the treatment of phenylketonuria: results of the phase 2 dose-finding studies with long-term follow-up","volume":"130","author":"Burton","year":"2020","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.xhgg.2023.100253_bib7","doi-asserted-by":"crossref","first-page":"420","DOI":"10.1038\/nature17946","article-title":"Programmable editing of a target base in genomic DNA without double-stranded DNA cleavage","volume":"533","author":"Komor","year":"2016","journal-title":"Nature"},{"key":"10.1016\/j.xhgg.2023.100253_bib8","doi-asserted-by":"crossref","first-page":"464","DOI":"10.1038\/nature24644","article-title":"Programmable base\u00a0editing of AT to GC in genomic DNA without DNA cleavage","volume":"551","author":"Gaudelli","year":"2017","journal-title":"Nature"},{"key":"10.1016\/j.xhgg.2023.100253_bib9","doi-asserted-by":"crossref","first-page":"3451","DOI":"10.1038\/s41467-023-39246-2","article-title":"Rapid and definitive treatment of phenylketonuria in variant-humanized mice with corrective editing","volume":"14","author":"Brooks","year":"2023","journal-title":"Nat. Commun."},{"key":"10.1016\/j.xhgg.2023.100253_bib10","doi-asserted-by":"crossref","first-page":"386","DOI":"10.1038\/sj.ejhg.5200312","article-title":"Genetic and phenotypic aspects of phenylalanine hydroxylase deficiency in Spain: molecular survey by regions","volume":"7","author":"Desviat","year":"1999","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.xhgg.2023.100253_bib11","doi-asserted-by":"crossref","first-page":"6762","DOI":"10.1038\/s41598-017-06462-y","article-title":"The predictive value of genetic analyses in the diagnosis of tetrahydrobiopterin (BH4)-responsiveness in Chinese phenylalanine hydroxylase deficiency patients","volume":"7","author":"Zhu","year":"2017","journal-title":"Sci. Rep."},{"key":"10.1016\/j.xhgg.2023.100253_bib12","doi-asserted-by":"crossref","first-page":"2474","DOI":"10.1038\/s41467-020-16117-8","article-title":"A Cas9 with PAM recognition for adenine dinucleotides","volume":"11","author":"Chatterjee","year":"2020","journal-title":"Nat. Commun."},{"key":"10.1016\/j.xhgg.2023.100253_bib13","doi-asserted-by":"crossref","first-page":"290","DOI":"10.1126\/science.aba8853","article-title":"Unconstrained genome targeting with near-PAMless engineered CRISPR-Cas9 variants","volume":"368","author":"Walton","year":"2020","journal-title":"Science"},{"key":"10.1016\/j.xhgg.2023.100253_bib14","doi-asserted-by":"crossref","first-page":"883","DOI":"10.1038\/s41587-020-0453-z","article-title":"Phage-assisted evolution of an adenine base editor with improved Cas domain compatibility and activity","volume":"38","author":"Richter","year":"2020","journal-title":"Nat. Biotechnol."},{"key":"10.1016\/j.xhgg.2023.100253_bib15","doi-asserted-by":"crossref","first-page":"892","DOI":"10.1038\/s41587-020-0491-6","article-title":"Directed evolution of adenine base editors with increased activity and therapeutic application","volume":"38","author":"Gaudelli","year":"2020","journal-title":"Nat. Biotechnol."},{"key":"10.1016\/j.xhgg.2023.100253_bib16","doi-asserted-by":"crossref","first-page":"6966","DOI":"10.1093\/nar\/gkad456","article-title":"Reducing the inherent auto-inhibitory interaction within the pegRNA enhances prime editing efficiency","volume":"51","author":"Ponnienselvan","year":"2023","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.xhgg.2023.100253_bib17","doi-asserted-by":"crossref","first-page":"545","DOI":"10.1038\/d41573-022-00124-z","article-title":"Base editors hit the clinic","volume":"21","author":"Kingwell","year":"2022","journal-title":"Nat. Rev. Drug Discov."},{"key":"10.1016\/j.xhgg.2023.100253_bib18","doi-asserted-by":"crossref","first-page":"481","DOI":"10.1038\/nature14592","article-title":"Engineered CRISPR-Cas9 nucleases with altered PAM specificities","volume":"523","author":"Kleinstiver","year":"2015","journal-title":"Nature"},{"key":"10.1016\/j.xhgg.2023.100253_bib19","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1038\/nature26155","article-title":"Evolved Cas9 variants with broad PAM compatibility and high DNA specificity","volume":"556","author":"Hu","year":"2018","journal-title":"Nature"},{"key":"10.1016\/j.xhgg.2023.100253_bib20","doi-asserted-by":"crossref","first-page":"1259","DOI":"10.1126\/science.aas9129","article-title":"Engineered CRISPR-Cas9 nuclease with expanded targeting space","volume":"361","author":"Nishimasu","year":"2018","journal-title":"Science"},{"key":"10.1016\/j.xhgg.2023.100253_bib21","doi-asserted-by":"crossref","first-page":"471","DOI":"10.1038\/s41587-020-0412-8","article-title":"Continuous evolution of SpCas9 variants compatible with non-G PAMs","volume":"38","author":"Miller","year":"2020","journal-title":"Nat. Biotechnol."},{"key":"10.1016\/j.xhgg.2023.100253_bib22","doi-asserted-by":"crossref","first-page":"429","DOI":"10.1038\/s41586-021-03534-y","article-title":"In\u00a0vivo CRISPR base editing of PCSK9 durably lowers cholesterol in primates","volume":"593","author":"Musunuru","year":"2021","journal-title":"Nature"}],"container-title":["Human Genetics and Genomics Advances"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2666247723000854?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2666247723000854?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,11,12]],"date-time":"2025-11-12T20:33:18Z","timestamp":1762979598000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S2666247723000854"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,1]]},"references-count":22,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2024,1]]}},"alternative-id":["S2666247723000854"],"URL":"https:\/\/doi.org\/10.1016\/j.xhgg.2023.100253","relation":{},"ISSN":["2666-2477"],"issn-type":[{"value":"2666-2477","type":"print"}],"subject":[],"published":{"date-parts":[[2024,1]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"A base editing strategy using mRNA-LNPs for in\u00a0vivo correction of the most frequent phenylketonuria variant","name":"articletitle","label":"Article Title"},{"value":"Human Genetics and Genomics Advances","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.xhgg.2023.100253","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"https:\/\/doi.org\/10.1016\/j.ajhg.2023.10.005","name":"associatedlink","label":"CrossRef DOI link to the associated document"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2023 The Author(s).","name":"copyright","label":"Copyright"}],"article-number":"100253"}}