{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,9]],"date-time":"2026-09-09T06:09:54Z","timestamp":1788934194762,"version":"build-2803163510"},"reference-count":49,"publisher":"Elsevier BV","issue":"6","license":[{"start":{"date-parts":[[2024,8,1]],"date-time":"2024-08-01T00:00:00Z","timestamp":1722470400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2024,8,1]],"date-time":"2024-08-01T00:00:00Z","timestamp":1722470400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2025,8,1]],"date-time":"2025-08-01T00:00:00Z","timestamp":1754006400000},"content-version":"vor","delay-in-days":365,"URL":"http:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"},{"start":{"date-parts":[[2024,8,1]],"date-time":"2024-08-01T00:00:00Z","timestamp":1722470400000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2024,8,1]],"date-time":"2024-08-01T00:00:00Z","timestamp":1722470400000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2024,8,1]],"date-time":"2024-08-01T00:00:00Z","timestamp":1722470400000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2024,8,1]],"date-time":"2024-08-01T00:00:00Z","timestamp":1722470400000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2024,8,1]],"date-time":"2024-08-01T00:00:00Z","timestamp":1722470400000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"funder":[{"DOI":"10.13039\/100006312","name":"BrightFocus Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100006312","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["R01 EY027785"],"award-info":[{"award-number":["R01 EY027785"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100005426","name":"Association for Research in Vision and Ophthalmology","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100005426","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100006325","name":"Arvo Foundation for Eye Research","doi-asserted-by":"publisher","award":["GAA202107-0016"],"award-info":[{"award-number":["GAA202107-0016"]}],"id":[{"id":"10.13039\/100006325","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease"],"published-print":{"date-parts":[[2024,8]]},"DOI":"10.1016\/j.bbadis.2024.167239","type":"journal-article","created":{"date-parts":[[2024,5,13]],"date-time":"2024-05-13T21:48:51Z","timestamp":1715636931000},"page":"167239","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":9,"title":["Exploring ocular fibulin-3 (EFEMP1): Anatomical, age-related, and species perspectives"],"prefix":"10.1016","volume":"1870","author":[{"given":"Steffi","family":"Daniel","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John D.","family":"Hulleman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.bbadis.2024.167239_bb0005","doi-asserted-by":"crossref","first-page":"479","DOI":"10.1038\/nrm1130","article-title":"Fibulins: a versatile family of extracellular matrix proteins","volume":"4","author":"Timpl","year":"2003","journal-title":"Nat. Rev."},{"key":"10.1016\/j.bbadis.2024.167239_bb0010","doi-asserted-by":"crossref","first-page":"153","DOI":"10.1007\/978-3-319-17121-0_21","article-title":"Malattia leventinese\/doyne honeycomb retinal dystrophy: similarities to age-related macular degeneration and potential therapies","volume":"854","author":"Hulleman","year":"2016","journal-title":"Adv. Exp. Med. Biol."},{"key":"10.1016\/j.bbadis.2024.167239_bb0015","doi-asserted-by":"crossref","first-page":"374","DOI":"10.1016\/j.exer.2009.09.018","article-title":"Focus on molecules: fibulin-3 (EFEMP1)","volume":"90","author":"Zhang","year":"2010","journal-title":"Exp. Eye Res."},{"key":"10.1016\/j.bbadis.2024.167239_bb0020","first-page":"10","article-title":"The pathophysiological significance of fibulin-3","author":"Livingstone","year":"2020","journal-title":"Biomolecules"},{"key":"10.1016\/j.bbadis.2024.167239_bb0025","doi-asserted-by":"crossref","first-page":"1945","DOI":"10.1002\/humu.24452","article-title":"A loss-of-function cysteine mutant in fibulin-3 (EFEMP1) forms aberrant extracellular disulfide-linked homodimers and alters extracellular matrix composition","volume":"43","author":"Woodard","year":"2022","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.bbadis.2024.167239_bb0030","doi-asserted-by":"crossref","first-page":"3059","DOI":"10.1093\/hmg\/ddm264","article-title":"Lack of fibulin-3 causes early aging and herniation, but not macular degeneration in mice","volume":"16","author":"McLaughlin","year":"2007","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.bbadis.2024.167239_bb0035","doi-asserted-by":"crossref","DOI":"10.1016\/j.ejmg.2020.103869","article-title":"Recessive marfanoid syndrome with herniation associated with a homozygous mutation in fibulin-3","volume":"63","author":"Bizzari","year":"2020","journal-title":"Eur. J. Med. Genet."},{"key":"10.1016\/j.bbadis.2024.167239_bb0040","doi-asserted-by":"crossref","first-page":"445","DOI":"10.1038\/s41431-019-0546-7","article-title":"Biallelic variants in EFEMP1 in a man with a pronounced connective tissue phenotype","volume":"28","author":"Driver","year":"2020","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.bbadis.2024.167239_bb0045","doi-asserted-by":"crossref","DOI":"10.3390\/genes12040510","article-title":"Loss-of-function variants in EFEMP1 cause a recognizable connective tissue disorder characterized by cutis laxa and multiple herniations","volume":"12","author":"Verlee","year":"2021","journal-title":"Genes (Basel)"},{"key":"10.1016\/j.bbadis.2024.167239_bb0050","doi-asserted-by":"crossref","first-page":"206","DOI":"10.2353\/ajpath.2009.080212","article-title":"Failure of pelvic organ support in mice deficient in fibulin-3","volume":"174","author":"Rahn","year":"2009","journal-title":"Am. J. Pathol."},{"key":"10.1016\/j.bbadis.2024.167239_bb0055","doi-asserted-by":"crossref","first-page":"91","DOI":"10.1007\/s00439-010-0904-6","article-title":"Genome-wide analysis of copy number variants in age-related macular degeneration","volume":"129","author":"Meyer","year":"2011","journal-title":"Hum. Genet."},{"key":"10.1016\/j.bbadis.2024.167239_bb0060","article-title":"EFEMP1 overexpression contributes to neovascularization in age-related macular degeneration","volume":"11","author":"Cheng","year":"2020","journal-title":"Front. Pharmacol."},{"key":"10.1016\/j.bbadis.2024.167239_bb0065","doi-asserted-by":"crossref","first-page":"539","DOI":"10.1056\/NEJMcp2102061","article-title":"Age-related macular degeneration","volume":"385","author":"Apte","year":"2021","journal-title":"N. Engl. J. Med."},{"key":"10.1016\/j.bbadis.2024.167239_bb0070","doi-asserted-by":"crossref","first-page":"240","DOI":"10.1002\/humu.24320","article-title":"EFEMP1 rare variants cause familial juvenile-onset open-angle glaucoma","volume":"43","author":"Collantes","year":"2021","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.bbadis.2024.167239_bb0075","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0132529","article-title":"Exome sequencing identifies a missense variant in EFEMP1 co-segregating in a family with autosomal dominant primary open-angle glaucoma","volume":"10","author":"Mackay","year":"2015","journal-title":"PLoS One"},{"key":"10.1016\/j.bbadis.2024.167239_bb0080","first-page":"1","article-title":"Association of EFEMP1 with juvenile-onset open angle glaucoma in a patient with concomitant COL11A1-related Stickler syndrome","author":"Gupta","year":"2022","journal-title":"Ophthalmic Genet."},{"key":"10.1016\/j.bbadis.2024.167239_bb0085","doi-asserted-by":"crossref","first-page":"2998","DOI":"10.1038\/s41598-020-79570-x","article-title":"Clinically-identified C-terminal mutations in fibulin-3 are prone to misfolding and destabilization","volume":"11","author":"Woodard","year":"2021","journal-title":"Sci. Rep."},{"key":"10.1016\/j.bbadis.2024.167239_bb0090","doi-asserted-by":"crossref","first-page":"199","DOI":"10.1038\/9722","article-title":"A single EFEMP1 mutation associated with both malattia leventinese and doyne honeycomb retinal dystrophy","volume":"22","author":"Stone","year":"1999","journal-title":"Nat. Genet."},{"key":"10.1016\/j.bbadis.2024.167239_bb0095","doi-asserted-by":"crossref","first-page":"2423","DOI":"10.1093\/hmg\/ddm199","article-title":"Formation and progression of sub-retinal pigment epithelium deposits in Efemp1 mutation knock-in mice: a model for the early pathogenic course of macular degeneration","volume":"16","author":"Marmorstein","year":"2007","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.bbadis.2024.167239_bb0100","doi-asserted-by":"crossref","first-page":"2411","DOI":"10.1093\/hmg\/ddm198","article-title":"The R345W mutation in EFEMP1 is pathogenic and causes AMD-like deposits in mice","volume":"16","author":"Fu","year":"2007","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.bbadis.2024.167239_bb0105","doi-asserted-by":"crossref","first-page":"52","DOI":"10.1093\/hmg\/ddt395","article-title":"Mouse genetics and proteomic analyses demonstrate a critical role for complement in a model of DHRD\/ML, an inherited macular degeneration","volume":"23","author":"Garland","year":"2014","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.bbadis.2024.167239_bb0110","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1167\/iovs.61.13.19","article-title":"Measuring the contributions of basal laminar deposit and Bruch\u2019s membrane in age-related macular degeneration","volume":"61","author":"Sura","year":"2020","journal-title":"Invest. Ophthalmol. Vis. Sci."},{"key":"10.1016\/j.bbadis.2024.167239_bb0115","doi-asserted-by":"crossref","first-page":"53","DOI":"10.1007\/978-3-319-17121-0_8","article-title":"Extracellular matrix alterations and deposit formation in AMD","volume":"854","author":"Fernandez-Godino","year":"2016","journal-title":"Adv. Exp. Med. Biol."},{"key":"10.1016\/j.bbadis.2024.167239_bb0120","doi-asserted-by":"crossref","first-page":"3085","DOI":"10.1167\/iovs.05-1600","article-title":"Maculopathy due to the R345W substitution in fibulin-3: distinct clinical features, disease variability, and extent of retinal dysfunction","volume":"47","author":"Michaelides","year":"2006","journal-title":"Invest. Ophthalmol. Vis. Sci."},{"key":"10.1016\/j.bbadis.2024.167239_bb0125","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0125631","article-title":"A comparison of some organizational characteristics of the mouse central retina and the human macula","volume":"10","author":"Volland","year":"2015","journal-title":"PLoS One"},{"key":"10.1016\/j.bbadis.2024.167239_bb0130","doi-asserted-by":"crossref","first-page":"1639","DOI":"10.1007\/s00109-020-01974-z","article-title":"Fibulin-3 knockout mice demonstrate corneal dysfunction but maintain normal retinal integrity","volume":"98","author":"Daniel","year":"2020","journal-title":"J. Mol. Med."},{"key":"10.1016\/j.bbadis.2024.167239_bb0135","doi-asserted-by":"crossref","DOI":"10.1038\/s41598-021-89978-8","article-title":"Complement C5 is not critical for the formation of sub-RPE deposits in Efemp1 mutant mice","volume":"11","author":"Garland","year":"2021","journal-title":"Sci. Rep."},{"key":"10.1016\/j.bbadis.2024.167239_bb0140","doi-asserted-by":"crossref","first-page":"13067","DOI":"10.1073\/pnas.202491599","article-title":"Aberrant accumulation of EFEMP1 underlies drusen formation in Malattia Leventinese and age-related macular degeneration","volume":"99","author":"Marmorstein","year":"2002","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"10.1016\/j.bbadis.2024.167239_bb0145","doi-asserted-by":"crossref","DOI":"10.1016\/j.exer.2020.108422","article-title":"Descriptive analysis of Fibulin-3 and the extracellular vesicle marker, Alix, in drusen from a small cohort of postmortem human eyes","volume":"203","author":"Grillo","year":"2021","journal-title":"Exp. Eye Res."},{"key":"10.1016\/j.bbadis.2024.167239_bb0150","doi-asserted-by":"crossref","first-page":"3313","DOI":"10.18632\/aging.202648","article-title":"Ageing transcriptome meta-analysis reveals similarities and differences between key mammalian tissues","volume":"13","author":"Palmer","year":"2021","journal-title":"Aging (Albany NY)"},{"key":"10.1016\/j.bbadis.2024.167239_bb0155","doi-asserted-by":"crossref","first-page":"444","DOI":"10.1002\/path.5203","article-title":"A novel age-related venous amyloidosis derived from EGF-containing fibulin-like extracellular matrix protein 1","volume":"247","author":"Tasaki","year":"2019","journal-title":"J. Pathol."},{"key":"10.1016\/j.bbadis.2024.167239_bb0160","doi-asserted-by":"crossref","first-page":"22821","DOI":"10.1074\/jbc.M112.439158","article-title":"Fibulin-3, -4, and -5 are highly susceptible to proteolysis, interact with cells and heparin, and form multimers","volume":"288","author":"Djokic","year":"2013","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.bbadis.2024.167239_bb0165","doi-asserted-by":"crossref","DOI":"10.1111\/acel.12710","article-title":"HTRA1, an age-related macular degeneration protease, processes extracellular matrix proteins EFEMP1 and TSP1","volume":"17","author":"Lin","year":"2018","journal-title":"Aging Cell"},{"key":"10.1016\/j.bbadis.2024.167239_bb0170","doi-asserted-by":"crossref","first-page":"676","DOI":"10.1016\/j.exer.2008.11.023","article-title":"Extracellular matrix turnover and outflow resistance","volume":"88","author":"Keller","year":"2009","journal-title":"Exp. Eye Res."},{"key":"10.1016\/j.bbadis.2024.167239_bb0175","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1095\/biolreprod65.1.31","article-title":"Expression of matrix metalloproteinase-2, -9, -14, and tissue inhibitors of metalloproteinase-1, -2, -3 in the endometrium and placenta of rhesus monkey (Macaca mulatta) during early pregnancy","volume":"65","author":"Wang","year":"2001","journal-title":"Biol. Reprod."},{"key":"10.1016\/j.bbadis.2024.167239_bb0180","doi-asserted-by":"crossref","first-page":"1331","DOI":"10.1095\/biolreprod64.5.1331","article-title":"Matrix metalloproteinase-9 and tissue inhibitor of metalloproteinase-3 are key regulators of extracellular matrix degradation by mouse embryos","volume":"64","author":"Whiteside","year":"2001","journal-title":"Biol. Reprod."},{"key":"10.1016\/j.bbadis.2024.167239_bb0185","doi-asserted-by":"crossref","first-page":"30469","DOI":"10.1074\/jbc.M403026200","article-title":"Tissue inhibitor of metalloproteinases-3 (TIMP-3) is a binding partner of epithelial growth factor-containing fibulin-like extracellular matrix protein 1 (EFEMP1). Implications for macular degenerations","volume":"279","author":"Klenotic","year":"2004","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.bbadis.2024.167239_bb0190","doi-asserted-by":"crossref","DOI":"10.1073\/pnas.2103617118","article-title":"Chromosome 10q26-driven age-related macular degeneration is associated with reduced levels of HTRA1 in human retinal pigment epithelium","volume":"118","author":"Williams","year":"2021","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"10.1016\/j.bbadis.2024.167239_bb0195","doi-asserted-by":"crossref","first-page":"25712","DOI":"10.18632\/oncotarget.8263","article-title":"EFEMP1 is repressed by estrogen and inhibits the epithelial-mesenchymal transition via Wnt\/beta-catenin signaling in endometrial carcinoma","volume":"7","author":"Yang","year":"2016","journal-title":"Oncotarget"},{"key":"10.1016\/j.bbadis.2024.167239_bb0200","doi-asserted-by":"crossref","first-page":"4613","DOI":"10.1167\/iovs.03-0112","article-title":"Transcriptional regulation and expression of the dominant drusen gene FBLN3 (EFEMP1) in mammalian retina","volume":"44","author":"Blackburn","year":"2003","journal-title":"Invest. Ophthalmol. Vis. Sci."},{"key":"10.1016\/j.bbadis.2024.167239_bb0205","doi-asserted-by":"crossref","first-page":"128","DOI":"10.1093\/hmg\/ddn323","article-title":"BEST1 expression in the retinal pigment epithelium is modulated by OTX family members","volume":"18","author":"Esumi","year":"2009","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.bbadis.2024.167239_bb0210","first-page":"637","article-title":"Promoter analysis of RPE65, the gene encoding a 61-kDa retinal pigment epithelium-specific protein","volume":"39","author":"Nicoletti","year":"1998","journal-title":"Invest. Ophthalmol. Vis. Sci."},{"key":"10.1016\/j.bbadis.2024.167239_bb0215","doi-asserted-by":"crossref","first-page":"1441","DOI":"10.1097\/IAE.0b013e3181ee5ce8","article-title":"Drusen characterization with multimodal imaging","volume":"30","author":"Spaide","year":"2010","journal-title":"Retina"},{"key":"10.1016\/j.bbadis.2024.167239_bb0220","doi-asserted-by":"crossref","DOI":"10.1073\/pnas.2117553119","article-title":"Single-cell-resolution map of human retinal pigment epithelium helps discover subpopulations with differential disease sensitivity","volume":"119","author":"Ortolan","year":"2022","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"10.1016\/j.bbadis.2024.167239_bb0225","doi-asserted-by":"crossref","DOI":"10.1016\/j.exer.2020.108204","article-title":"Spectacle: an interactive resource for ocular single-cell RNA sequencing data analysis","volume":"200","author":"Voigt","year":"2020","journal-title":"Exp. Eye Res."},{"key":"10.1016\/j.bbadis.2024.167239_bb0230","doi-asserted-by":"crossref","first-page":"1683","DOI":"10.1167\/iovs.09-4159","article-title":"Retinal glial (Muller) cells: sensing and responding to tissue stretch","volume":"51","author":"Lindqvist","year":"2010","journal-title":"Invest. Ophthalmol. Vis. Sci."},{"key":"10.1016\/j.bbadis.2024.167239_bb0235","doi-asserted-by":"crossref","first-page":"4765","DOI":"10.1091\/mbc.e11-08-0695","article-title":"Compromised mutant EFEMP1 secretion associated with macular dystrophy remedied by proteostasis network alteration","volume":"22","author":"Hulleman","year":"2011","journal-title":"Mol. Biol. Cell"},{"key":"10.1016\/j.bbadis.2024.167239_bb0240","doi-asserted-by":"crossref","first-page":"565","DOI":"10.1096\/fj.14-255414","article-title":"Genetic ablation of N-linked glycosylation reveals two key folding pathways for R345W fibulin-3, a secreted protein associated with retinal degeneration","volume":"29","author":"Hulleman","year":"2015","journal-title":"FASEB J."},{"key":"10.1016\/j.bbadis.2024.167239_bb0245","doi-asserted-by":"crossref","first-page":"4548","DOI":"10.1096\/fj.11-202861","article-title":"Translational attenuation differentially alters the fate of disease-associated fibulin proteins","volume":"26","author":"Hulleman","year":"2012","journal-title":"FASEB J."}],"container-title":["Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S092544392400228X?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S092544392400228X?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,11,5]],"date-time":"2025-11-05T06:23:52Z","timestamp":1762323832000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S092544392400228X"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,8]]},"references-count":49,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2024,8]]}},"alternative-id":["S092544392400228X"],"URL":"https:\/\/doi.org\/10.1016\/j.bbadis.2024.167239","relation":{"has-preprint":[{"id-type":"doi","id":"10.1101\/2022.09.28.509587","asserted-by":"object"}]},"ISSN":["0925-4439"],"issn-type":[{"value":"0925-4439","type":"print"}],"subject":[],"published":{"date-parts":[[2024,8]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Exploring ocular fibulin-3 (EFEMP1): Anatomical, age-related, and species perspectives","name":"articletitle","label":"Article Title"},{"value":"Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.bbadis.2024.167239","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2024 Elsevier B.V.","name":"copyright","label":"Copyright"}],"article-number":"167239"}}