{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,27]],"date-time":"2026-02-27T02:53:34Z","timestamp":1772160814030,"version":"3.50.1"},"reference-count":24,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2023,6,22]],"date-time":"2023-06-22T00:00:00Z","timestamp":1687392000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["nyaspubs.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Annals of the New York Academy of Sciences"],"published-print":{"date-parts":[[2023,8]]},"abstract":"Abstract<\/jats:title>\n \n Mucopolysaccharidoses (MPS) are a group of rare congenital metabolic disorders caused by the deficiency or low activity of enzymes required for glycosaminoglycans degradation. Mutations in the \u03b1\u2010\n l<\/jats:sc>\n \u2010iduronidase gene\n (IDUA)<\/jats:italic>\n are associated with mucopolysaccharidosis type I (MPS I). Our study here aims to identify an MPS\u2010related gene mutation in a typical patient with MPS and to further explore the possible pathogenic mechanism. We identified a homozygous c. 2T>C (p.M1T) change in\n IDUA<\/jats:italic>\n as the pathogenic mutation in this individual (both parents were identified as carriers of the mutation), with IDUA enzyme activity significantly decreased. We further established an MPS I\u2013related zebrafish model using\n IDUA<\/jats:italic>\n \u2010specific morpholino (MO) to suppress gene expression, and found that IDUA\u2010MO zebrafish exhibited characteristic disease phenotypes with deficiency of IDUA. Transcriptome profiling of zebrafish larvae revealed 487 genes that were significantly altered when IDUA was depleted. TP53 signaling and LC3\/GABARAP family protein\u2010mediated autophagy were significantly upregulated in IDUA\u2010MO zebrafish larvae. Moreover, leukotriene A4 hydrolase\u2010mediated arachidonic acid metabolism was also upregulated. Introduction of wild\u2010type human IDUA mRNA rescued developmental defects and aberrant signaling in IDUA\u2010MO zebrafish larvae. In conclusion, our study provides potential therapeutic targets for the treatment of MPS I.\n <\/jats:p>","DOI":"10.1111\/nyas.15016","type":"journal-article","created":{"date-parts":[[2023,6,24]],"date-time":"2023-06-24T17:21:27Z","timestamp":1687627287000},"page":"114-125","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Identification of an \u03b1\u2010\n l<\/scp>\n \u2010iduronidase (\n IDUA<\/i>\n ) M1T mutation in a Chinese family with autosomal recessive mucopolysaccharidosis I"],"prefix":"10.1111","volume":"1526","author":[{"given":"Dan","family":"Liu","sequence":"first","affiliation":[{"name":"Eye Center of Xiangya Hospital and Hunan Key Laboratory of Ophthalmology Central South University Changsha China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhongjing","family":"Jiang","sequence":"additional","affiliation":[{"name":"Department of Spine Surgery and Orthopaedics, Xiangya Hospital Central South University Changsha China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Linhua","family":"Deng","sequence":"additional","affiliation":[{"name":"Department of Spine Surgery and Orthopaedics, Xiangya Hospital Central South University Changsha China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6969-9775","authenticated-orcid":false,"given":"Haibo","family":"Li","sequence":"additional","affiliation":[{"name":"Eye Center of Xiangya Hospital and Hunan Key Laboratory of Ophthalmology Central South University Changsha China"},{"name":"National Clinical Research Center for Geriatric Disorders, Xiangya Hospital Central South University Changsha China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Haibo","family":"Jiang","sequence":"additional","affiliation":[{"name":"Eye Center of Xiangya Hospital and Hunan Key Laboratory of Ophthalmology Central South University Changsha 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