{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,3]],"date-time":"2026-11-03T02:38:36Z","timestamp":1793673516990,"version":"4.5.1"},"reference-count":21,"publisher":"Elsevier BV","issue":"9","license":[{"start":{"date-parts":[[2023,9,1]],"date-time":"2023-09-01T00:00:00Z","timestamp":1693526400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2023,9,1]],"date-time":"2023-09-01T00:00:00Z","timestamp":1693526400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2023,8,11]],"date-time":"2023-08-11T00:00:00Z","timestamp":1691712000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/100014607","name":"Royal Children's Hospital Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100014607","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000923","name":"Australian Research Council","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000923","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000925","name":"National Health and Medical Research Council","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000925","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001030","name":"National Heart Foundation of Australia","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001030","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004752","name":"State Government of Victoria","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004752","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100009708","name":"Novo Nordisk Fonden","doi-asserted-by":"publisher","award":["NNF21CC0073729"],"award-info":[{"award-number":["NNF21CC0073729"]}],"id":[{"id":"10.13039\/501100009708","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["cell.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["The American Journal of Human Genetics"],"published-print":{"date-parts":[[2023,9]]},"DOI":"10.1016\/j.ajhg.2023.07.013","type":"journal-article","created":{"date-parts":[[2023,8,21]],"date-time":"2023-08-21T10:28:46Z","timestamp":1692613726000},"page":"1600-1605","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":18,"title":["GLA-modified RNA treatment lowers GB3 levels in iPSC-derived cardiomyocytes from Fabry-affected individuals"],"prefix":"10.1016","volume":"110","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0568-3475","authenticated-orcid":false,"given":"Menno","family":"ter Huurne","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Benjamin L.","family":"Parker","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ning Qing","family":"Liu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elizabeth Ling","family":"Qian","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Celine","family":"Vivien","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kathy","family":"Karavendzas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard J.","family":"Mills","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jennifer T.","family":"Saville","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dad","family":"Abu-Bonsrah","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea F.","family":"Wise","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James E.","family":"Hudson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew S.","family":"Talbot","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patrick F.","family":"Finn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paolo G.V.","family":"Martini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"Fuller","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sharon D.","family":"Ricardo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kevin I.","family":"Watt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kathy M.","family":"Nicholls","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Enzo R.","family":"Porrello","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1052-7407","authenticated-orcid":false,"given":"David A.","family":"Elliott","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ajhg.2023.07.013_bib1","doi-asserted-by":"crossref","first-page":"1173","DOI":"10.1038\/2271173b0","article-title":"The Enzyme Defect in Fabry\u2019s Disease","volume":"227","author":"Kint","year":"1970","journal-title":"Nature"},{"key":"10.1016\/j.ajhg.2023.07.013_bib2","first-page":"629","article-title":"Fabry disease","volume":"5","author":"Toyooka","year":"2013","journal-title":"Handb. Clin. Neurol."},{"key":"10.1016\/j.ajhg.2023.07.013_bib3","doi-asserted-by":"crossref","first-page":"548","DOI":"10.1136\/jmg.2008.065904","article-title":"Natural course of Fabry disease: Changing pattern of causes of death in FOS - Fabry Outcome Survey","volume":"46","author":"Mehta","year":"2009","journal-title":"J.\u00a0Med. Genet."},{"key":"10.1016\/j.ajhg.2023.07.013_bib4","doi-asserted-by":"crossref","first-page":"4434","DOI":"10.3390\/ijms22094434","article-title":"Fabry Disease and the Heart: A Comprehensive Review","volume":"22","author":"Azevedo","year":"2021","journal-title":"Int. J. Mol. Sci."},{"key":"10.1016\/j.ajhg.2023.07.013_bib5","doi-asserted-by":"crossref","first-page":"353","DOI":"10.1136\/jmedgenet-2014-102797","article-title":"Ten-year outcome of enzyme replacement therapy with agalsidase beta in patients with Fabry disease","volume":"52","author":"Germain","year":"2015","journal-title":"J.\u00a0Med. Genet."},{"key":"10.1016\/j.ajhg.2023.07.013_bib6","article-title":"Massive accumulation of globotriaosylceramide in various tissues from a Fabry patient with a high antibody titer against alpha-galactosidase A after 6 years of enzyme replacement therapy","volume":"24","author":"Hongo","year":"2020","journal-title":"Mol. Genet. Metab. Rep."},{"key":"10.1016\/j.ajhg.2023.07.013_bib7","doi-asserted-by":"crossref","first-page":"1589","DOI":"10.1111\/j.1523-1755.2004.00924.x","article-title":"Enzyme therapy for Fabry disease : Neutralizing antibodies toward agalsidase alpha and beta","volume":"66","author":"Linthorst","year":"2004","journal-title":"Kidney Int."},{"key":"10.1016\/j.ajhg.2023.07.013_bib8","doi-asserted-by":"crossref","first-page":"635","DOI":"10.1007\/s40265-021-01486-1","article-title":"Fabry Disease : The Current Treatment Landscape","volume":"81","author":"Lenders","year":"2021","journal-title":"Drugs"},{"key":"10.1016\/j.ajhg.2023.07.013_bib9","doi-asserted-by":"crossref","first-page":"288","DOI":"10.1136\/jmedgenet-2016-104178","article-title":"Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease : 18-month results from the randomised phase III ATTRACT study","volume":"54","author":"Hughes","year":"2017","journal-title":"J.\u00a0Med. Genet."},{"key":"10.1016\/j.ajhg.2023.07.013_bib10","doi-asserted-by":"crossref","first-page":"403","DOI":"10.1056\/NEJMoa2035389","article-title":"Efficacy and Safety of the mRNA-1273 SARS-CoV-2 Vaccine","volume":"384","author":"Baden","year":"2021","journal-title":"N.\u00a0Engl. J. Med."},{"key":"10.1016\/j.ajhg.2023.07.013_bib11","doi-asserted-by":"crossref","first-page":"785","DOI":"10.1016\/j.ymthe.2018.11.018","article-title":"mRNA-Based Protein Replacement Therapy for the Heart","volume":"27","author":"Magadum","year":"2019","journal-title":"Mol. Ther."},{"key":"10.1016\/j.ajhg.2023.07.013_bib12","doi-asserted-by":"crossref","first-page":"625","DOI":"10.1016\/j.ajhg.2019.02.003","article-title":"Systemic mRNA Therapy for the Treatment of Fabry Disease: Preclinical Studies in Wild-Type Mice, Fabry Mouse Model, and Wild-Type Non-human Primates","volume":"104","author":"Zhu","year":"2019","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2023.07.013_bib13","article-title":"Biochemical and genetic diagnosis of Fabry disease","volume":"Chapter 18","author":"Winchester","year":"2006"},{"key":"10.1016\/j.ajhg.2023.07.013_bib14","first-page":"380","article-title":"A Human Stem Cell Model of Fabry Disease Implicates LIMP-2 Accumulation in Cardiomyocyte Pathology","volume":"13","author":"Birket","year":"2019","journal-title":"Stem Cell\u00a0Rep."},{"key":"10.1016\/j.ajhg.2023.07.013_bib15","doi-asserted-by":"crossref","DOI":"10.3390\/genes13040593","article-title":"Complex Changes in the Efficiency of the Expression of Many Genes in Monogenic Diseases, Mucopolysaccharidoses, May Arise from Significant Disturbances in the Levels of Factors Involved in the Gene Expression Regulation Processes","volume":"13","author":"Cyske","year":"2022","journal-title":"Genes"},{"key":"10.1016\/j.ajhg.2023.07.013_bib16","article-title":"Dysregulated DNA methylation in the pathogenesis of Fabry disease","volume":"33","author":"Shen","year":"2022","journal-title":"Mol. Genet. Metab. Rep."},{"key":"10.1016\/j.ajhg.2023.07.013_bib17","doi-asserted-by":"crossref","first-page":"117","DOI":"10.1016\/j.ymgme.2021.07.006","article-title":"Gene therapy for Fabry disease: Progress, challenges, and outlooks on gene-editing","volume":"134","author":"Domm","year":"2021","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ajhg.2023.07.013_bib18","doi-asserted-by":"crossref","first-page":"1178","DOI":"10.1038\/s41467-021-21371-5","article-title":"Lentivirus-mediated gene therapy for Fabry disease","volume":"12","author":"Khan","year":"2021","journal-title":"Nat. Commun."},{"key":"10.1016\/j.ajhg.2023.07.013_bib19","doi-asserted-by":"crossref","first-page":"265","DOI":"10.1038\/s41576-021-00439-4","article-title":"Drug delivery systems for RNA therapeutics","volume":"23","author":"Paunovska","year":"2022","journal-title":"Nat. Rev. Genet."},{"key":"10.1016\/j.ajhg.2023.07.013_bib20","doi-asserted-by":"crossref","first-page":"1078","DOI":"10.1038\/s41578-021-00358-0","article-title":"Lipid nanoparticles for mRNA delivery","volume":"6","author":"Hou","year":"2021","journal-title":"Nat. Rev. Mater."},{"key":"10.1016\/j.ajhg.2023.07.013_bib21","doi-asserted-by":"crossref","first-page":"389","DOI":"10.1038\/s41569-020-00499-9","article-title":"Targeted delivery of therapeutic agents to the heart","volume":"18","author":"Sahoo","year":"2021","journal-title":"Nat. Rev. Cardiol."}],"container-title":["The American Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929723002768?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929723002768?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,11,2]],"date-time":"2025-11-02T10:22:42Z","timestamp":1762078962000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0002929723002768"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,9]]},"references-count":21,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2023,9]]}},"alternative-id":["S0002929723002768"],"URL":"https:\/\/doi.org\/10.1016\/j.ajhg.2023.07.013","relation":{},"ISSN":["0002-9297"],"issn-type":[{"value":"0002-9297","type":"print"}],"subject":[],"published":{"date-parts":[[2023,9]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"GLA-modified RNA treatment lowers GB3 levels in iPSC-derived cardiomyocytes from Fabry-affected individuals","name":"articletitle","label":"Article Title"},{"value":"The American Journal of Human Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ajhg.2023.07.013","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"}]}}