{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T15:56:43Z","timestamp":1787068603545,"version":"build-2736575974"},"reference-count":21,"publisher":"Elsevier BV","issue":"4","license":[{"start":{"date-parts":[[2022,4,1]],"date-time":"2022-04-01T00:00:00Z","timestamp":1648771200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2022,4,1]],"date-time":"2022-04-01T00:00:00Z","timestamp":1648771200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81873687"],"award-info":[{"award-number":["81873687"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004826","name":"Natural Science Foundation of Beijing Municipality","doi-asserted-by":"publisher","award":["7212071"],"award-info":[{"award-number":["7212071"]}],"id":[{"id":"10.13039\/501100004826","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100012226","name":"Fundamental Research Funds for the Central Universities","doi-asserted-by":"publisher","award":["3332020015"],"award-info":[{"award-number":["3332020015"]}],"id":[{"id":"10.13039\/501100012226","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100013804","name":"Fundamental Research Funds for the Central Universities","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100013804","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Journal of Genetics and Genomics"],"published-print":{"date-parts":[[2022,4]]},"DOI":"10.1016\/j.jgg.2021.10.003","type":"journal-article","created":{"date-parts":[[2021,10,26]],"date-time":"2021-10-26T19:26:41Z","timestamp":1635276401000},"page":"380-383","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":7,"title":["Targeted lipidomics reveals plasmalogen phosphatidylethanolamines and storage triacylglycerols as the major systemic lipid aberrations in Bietti crystalline corneoretinal dystrophy"],"prefix":"10.1016","volume":"49","author":[{"given":"Shijing","family":"Wu","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sin Man","family":"Lam","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Huajin","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Binhua","family":"Jiang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zixi","family":"Sun","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tian","family":"Zhu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xing","family":"Wei","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xuan","family":"Zou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guanghou","family":"Shui","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6659-0926","authenticated-orcid":false,"given":"Ruifang","family":"Sui","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.jgg.2021.10.003_bib1","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0035102","article-title":"Lipid composition of the human eye: are red blood cells a good mirror of retinal and optic nerve fatty acids?","volume":"7","author":"Acar","year":"2012","journal-title":"PLoS ONE"},{"key":"10.1016\/j.jgg.2021.10.003_bib2","doi-asserted-by":"crossref","first-page":"840","DOI":"10.1016\/j.exer.2009.07.008","article-title":"Red blood cell plasmalogens and docosahexaenoic acid are independently reduced in primary open-angle glaucoma","volume":"89","author":"Acar","year":"2009","journal-title":"Exp. Eye Res."},{"key":"10.1016\/j.jgg.2021.10.003_bib3","doi-asserted-by":"crossref","first-page":"143","DOI":"10.1016\/j.exer.2006.09.009","article-title":"Plasmalogens in the retina: in situ hybridization of dihydroxyacetone phosphate acyltransferase (DHAP-AT)\u2014the first enzyme involved in their biosynthesis--and comparative study of retinal and retinal pigment epithelial lipid composition","volume":"84","author":"Acar","year":"2007","journal-title":"Exp. Eye Res."},{"key":"10.1016\/j.jgg.2021.10.003_bib4","doi-asserted-by":"crossref","first-page":"2018","DOI":"10.1194\/jlr.R001131","article-title":"Rescue and repair during photoreceptor cell renewal mediated by docosahexaenoic acid-derived neuroprotectin D1","volume":"51","author":"Bazan","year":"2010","journal-title":"J. Lipid Res."},{"key":"10.1016\/j.jgg.2021.10.003_bib5","doi-asserted-by":"crossref","first-page":"892","DOI":"10.1016\/j.freeradbiomed.2011.01.002","article-title":"Interactions of plasmalogens and their diacyl analogs with singlet oxygen in selected model systems","volume":"50","author":"Broniec","year":"2011","journal-title":"Free Radic. Biol. Med."},{"key":"10.1016\/j.jgg.2021.10.003_bib6","first-page":"737","article-title":"Ueber falillaeres Vorkommen von \"Retinitis punctata albescens\" (verbunden mit \"Dystrophia marginalis cristallinea comeae\"), Glitzen des Glaskoepers und anderen degenerativen Augenveraenderugen","volume":"99","author":"Bietti","year":"1937","journal-title":"Klin. Monbl. Augenheilkd"},{"key":"10.1016\/j.jgg.2021.10.003_bib7","doi-asserted-by":"crossref","first-page":"3936","DOI":"10.1073\/pnas.1717338115","article-title":"Reduction of lipid accumulation rescues Bietti\u2019s crystalline dystrophy phenotypes","volume":"115","author":"Hata","year":"2018","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"10.1016\/j.jgg.2021.10.003_bib8","doi-asserted-by":"crossref","first-page":"124","DOI":"10.1124\/mi.11.2.10","article-title":"Finding homes for orphan cytochrome P450s: CYP4V2 and CYP4F22 in disease states","volume":"11","author":"Kelly","year":"2011","journal-title":"Mol. Interv."},{"key":"10.1016\/j.jgg.2021.10.003_bib9","doi-asserted-by":"crossref","DOI":"10.26508\/lsa.201900348","article-title":"Plasmalogen loss caused by remodeling deficiency in mitochondria","volume":"2","author":"Kimura","year":"2019","journal-title":"Life Sci. Alliance"},{"key":"10.1016\/j.jgg.2021.10.003_bib10","doi-asserted-by":"crossref","first-page":"1092","DOI":"10.1167\/iovs.09-3665","article-title":"Alterations in serum fatty acid concentrations and desaturase activities in Bietti crystalline dystrophy unaffected by CYP4V2 genotypes","volume":"51","author":"Lai","year":"2010","journal-title":"Invest. Ophthalmol. Vis. Sci."},{"key":"10.1016\/j.jgg.2021.10.003_bib11","doi-asserted-by":"crossref","first-page":"909","DOI":"10.1038\/s42255-021-00425-4","article-title":"A multi-omics investigation of the composition and function of extracellular vesicles along the temporal trajectory of COVID-19","volume":"3","author":"Lam","year":"2021","journal-title":"Nat. Metab."},{"key":"10.1016\/j.jgg.2021.10.003_bib12","first-page":"1707","article-title":"The metabolism of fatty acids in human Bietti crystalline dystrophy","volume":"42","author":"Lee","year":"2001","journal-title":"Invest. Ophthalmol. Vis. Sci."},{"key":"10.1016\/j.jgg.2021.10.003_bib13","doi-asserted-by":"crossref","first-page":"817","DOI":"10.1086\/383228","article-title":"Bietti crystalline corneoretinal dystrophy is caused by mutations in the novel gene CYP4V2","volume":"74","author":"Li","year":"2004","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.jgg.2021.10.003_bib14","doi-asserted-by":"crossref","first-page":"679","DOI":"10.1124\/mol.112.080085","article-title":"CYP4V2 in Bietti's crystalline dystrophy: ocular localization, metabolism of \u03c9-3-polyunsaturated fatty acids, and functional deficit of the p.H331P variant","volume":"82","author":"Nakano","year":"2012","journal-title":"Mol. Pharmacol."},{"key":"10.1016\/j.jgg.2021.10.003_bib15","doi-asserted-by":"crossref","first-page":"245","DOI":"10.1097\/APO.0000000000000209","article-title":"Genetics of Bietti crystalline dystrophy","volume":"5","author":"Ng","year":"2016","journal-title":"Asia Pac. J. Ophthalmol. (Phila)"},{"key":"10.1016\/j.jgg.2021.10.003_bib16","doi-asserted-by":"crossref","first-page":"259","DOI":"10.1024\/0300-9831.73.4.259","article-title":"Effect of dietary DHA on DHA levels in retinal rod outer segments in young versus mature rats","volume":"73","author":"Nishizawa","year":"2003","journal-title":"Int. J. Vitam. Nutr. Res."},{"key":"10.1016\/j.jgg.2021.10.003_bib17","doi-asserted-by":"crossref","first-page":"370","DOI":"10.1038\/s41434-020-0159-3","article-title":"Treating Bietti crystalline dystrophy in a high-fat diet-exacerbated murine model using gene therapy","volume":"27","author":"Qu","year":"2020","journal-title":"Gene Ther."},{"key":"10.1016\/j.jgg.2021.10.003_bib18","doi-asserted-by":"crossref","first-page":"523","DOI":"10.1016\/j.jgg.2020.08.003","article-title":"Comprehensive lipidomics in apoM-\/- mice reveals an overall state of metabolic distress and attenuated hepatic lipid secretion into the circulation","volume":"47","author":"Shi","year":"2020","journal-title":"J. Genet. Genomics"},{"key":"10.1016\/j.jgg.2021.10.003_bib19","doi-asserted-by":"crossref","first-page":"16","DOI":"10.1016\/j.ymgme.2004.08.016","article-title":"Peroxisomes, lipid metabolism, and peroxisomal disorders","volume":"83","author":"Wanders","year":"2004","journal-title":"Mol. Genet. Metabol."},{"key":"10.1016\/j.jgg.2021.10.003_bib20","doi-asserted-by":"crossref","first-page":"2642","DOI":"10.1016\/j.ymthe.2020.07.024","article-title":"PSCs reveal PUFA-provoked mitochondrial stress as a central node potentiating RPE degeneration in Bietti's crystalline dystrophy","volume":"28","author":"Zhang","year":"2020","journal-title":"Mol. Ther."},{"key":"10.1016\/j.jgg.2021.10.003_bib21","doi-asserted-by":"crossref","first-page":"603","DOI":"10.1038\/s41586-020-2732-8","article-title":"Plasticity of ether lipids promotes ferroptosis susceptibility and evasion","volume":"585","author":"Zou","year":"2020","journal-title":"Nature"}],"container-title":["Journal of Genetics and Genomics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1673852721003258?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1673852721003258?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,28]],"date-time":"2025-10-28T11:37:19Z","timestamp":1761651439000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1673852721003258"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,4]]},"references-count":21,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2022,4]]}},"alternative-id":["S1673852721003258"],"URL":"https:\/\/doi.org\/10.1016\/j.jgg.2021.10.003","relation":{},"ISSN":["1673-8527"],"issn-type":[{"value":"1673-8527","type":"print"}],"subject":[],"published":{"date-parts":[[2022,4]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Targeted lipidomics reveals plasmalogen phosphatidylethanolamines and storage triacylglycerols as the major systemic lipid aberrations in Bietti crystalline corneoretinal dystrophy","name":"articletitle","label":"Article Title"},{"value":"Journal of Genetics and Genomics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.jgg.2021.10.003","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"simple-article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2021 Institute of Genetics and Developmental Biology, Chinese Academy of Sciences, and Genetics Society of China. Published by Elsevier Limited and Science Press. All rights reserved.","name":"copyright","label":"Copyright"}]}}