{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T22:02:33Z","timestamp":1791928953370,"version":"4.3.4"},"reference-count":33,"publisher":"Association for Research in Vision and Ophthalmology (ARVO)","issue":"12","license":[{"start":{"date-parts":[[2025,9,3]],"date-time":"2025-09-03T00:00:00Z","timestamp":1756857600000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Invest. Ophthalmol. Vis. Sci."],"published-print":{"date-parts":[[2025,9,3]]},"DOI":"10.1167\/iovs.66.12.7","type":"journal-article","created":{"date-parts":[[2025,9,3]],"date-time":"2025-09-03T14:30:50Z","timestamp":1756909850000},"page":"7","source":"Crossref","is-referenced-by-count":1,"title":["A Novel Mouse Model of Granular Corneal Dystrophy Type II Reveals Impaired Autophagy and Recapitulates Human Pathogenesis"],"prefix":"10.1167","volume":"66","author":[{"given":"Yanze","family":"Yu","sequence":"first","affiliation":[{"name":"Eye Institute and Department of Ophthalmology, Eye and ENT Hospital, Fudan University, Shanghai, China"},{"name":"Key Laboratory of Myopia and Related Eye Diseases, Chinese Academy of Medical Sciences, Shanghai, China"},{"name":"Shanghai Research Center of Ophthalmology and Optometry, Shanghai, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhe","family":"Zhang","sequence":"additional","affiliation":[{"name":"Eye Institute and Department of Ophthalmology, Eye and ENT Hospital, Fudan University, Shanghai, China"},{"name":"Key Laboratory of Myopia and Related Eye Diseases, Chinese Academy of Medical Sciences, Shanghai, China"},{"name":"Shanghai Research Center of Ophthalmology and Optometry, Shanghai, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zimeng","family":"Zhai","sequence":"additional","affiliation":[{"name":"Eye Institute and Department of Ophthalmology, Eye and ENT Hospital, Fudan University, Shanghai, China"},{"name":"Key Laboratory of Myopia and Related Eye Diseases, Chinese Academy of Medical Sciences, Shanghai, China"},{"name":"Shanghai Research Center of Ophthalmology and Optometry, Shanghai, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bingqing","family":"Sun","sequence":"additional","affiliation":[{"name":"Eye Institute and Department of Ophthalmology, Eye and ENT Hospital, Fudan University, Shanghai, China"},{"name":"Key Laboratory of Myopia and Related Eye Diseases, Chinese Academy of Medical Sciences, Shanghai, China"},{"name":"Shanghai Research Center of Ophthalmology and Optometry, Shanghai, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dongmei","family":"Yang","sequence":"additional","affiliation":[{"name":"Eye Institute and Department of Ophthalmology, Eye and ENT Hospital, Fudan University, Shanghai, China"},{"name":"Key Laboratory of Myopia and Related Eye Diseases, Chinese Academy of Medical Sciences, Shanghai, China"},{"name":"Shanghai Research Center of Ophthalmology and Optometry, Shanghai, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhanying","family":"Wang","sequence":"additional","affiliation":[{"name":"Eye Institute and Department of Ophthalmology, Eye and ENT Hospital, Fudan University, Shanghai, China"},{"name":"Key Laboratory of Myopia and Related Eye Diseases, Chinese Academy of Medical Sciences, Shanghai, China"},{"name":"Shanghai Research Center of Ophthalmology and Optometry, Shanghai, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qinghong","family":"Lin","sequence":"additional","affiliation":[{"name":"Eye Institute and Department of Ophthalmology, Eye and ENT Hospital, Fudan University, Shanghai, China"},{"name":"Key Laboratory of Myopia and Related Eye Diseases, Chinese Academy of Medical Sciences, Shanghai, China"},{"name":"Shanghai Research Center of Ophthalmology and Optometry, Shanghai, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xingtao","family":"Zhou","sequence":"additional","affiliation":[{"name":"Eye Institute and Department of Ophthalmology, Eye and ENT Hospital, Fudan University, Shanghai, China"},{"name":"Key Laboratory of Myopia and Related Eye Diseases, Chinese Academy of Medical Sciences, Shanghai, China"},{"name":"Shanghai Research Center of Ophthalmology and Optometry, Shanghai, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jing","family":"Zhao","sequence":"additional","affiliation":[{"name":"Eye Institute and Department of Ophthalmology, Eye and ENT Hospital, Fudan University, Shanghai, China"},{"name":"Key Laboratory of Myopia and Related Eye Diseases, Chinese Academy of Medical Sciences, Shanghai, China"},{"name":"Shanghai Research Center of Ophthalmology and Optometry, Shanghai, China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"27","reference":[{"issue":"1","key":"bib1","doi-asserted-by":"publisher","first-page":"46","DOI":"10.1038\/s41572-020-0178-9","article-title":"Corneal dystrophies","volume":"6","author":"Soh","year":"2020","journal-title":"Nat Rev Dis Primers"},{"key":"bib2","doi-asserted-by":"publisher","first-page":"67","DOI":"10.1016\/j.preteyeres.2015.11.002","article-title":"Pathogenesis and treatments of TGFBI corneal dystrophies","volume":"50","author":"Han","year":"2016","journal-title":"Prog Retin Eye Res"},{"issue":"1","key":"bib3","doi-asserted-by":"publisher","first-page":"6986","DOI":"10.1038\/s41598-021-86414-9","article-title":"Compound heterozygous mutations in TGFBI cause a severe phenotype of granular corneal dystrophy type 2","volume":"11","author":"Jun","year":"2021","journal-title":"Sci Rep"},{"key":"bib4","doi-asserted-by":"publisher","first-page":"107715","DOI":"10.1016\/j.exer.2019.107715","article-title":"Clinical and genetic update of corneal dystrophies","volume":"186","author":"Lisch","year":"2019","journal-title":"Exp Eye Res"},{"key":"bib5","doi-asserted-by":"publisher","first-page":"100843","DOI":"10.1016\/j.preteyeres.2020.100843","article-title":"Biochemical mechanisms of aggregation in TGFBI-linked corneal dystrophies","volume":"77","author":"Nielsen","year":"2020","journal-title":"Prog Retin Eye Res"},{"issue":"4","key":"bib6","doi-asserted-by":"publisher","first-page":"340","DOI":"10.3341\/kjo.2023.0032","article-title":"Mini-Review: clinical features and management of granular corneal dystrophy type 2","volume":"37","author":"Chang","year":"2023","journal-title":"Korean J Ophthalmol"},{"issue":"5","key":"bib7","doi-asserted-by":"publisher","first-page":"1110","DOI":"10.3892\/ijmm.2013.1480","article-title":"Establishment of a transgenic mouse model of corneal dystrophy overexpressing human BIGH3","volume":"32","author":"Liao","year":"2013","journal-title":"Int J Mol Med"},{"issue":"7","key":"bib8","doi-asserted-by":"publisher","first-page":"e0133397","DOI":"10.1371\/journal.pone.0133397","article-title":"Development of a transgenic mouse with R124H human TGFBI mutation associated with granular corneal dystrophy type 2","volume":"10","author":"Yamazoe","year":"2015","journal-title":"PLoS One"},{"issue":"6121","key":"bib9","doi-asserted-by":"publisher","first-page":"823","DOI":"10.1126\/science.1232033","article-title":"RNA-guided human genome engineering via Cas9","volume":"339","author":"Mali","year":"2013","journal-title":"Science"},{"issue":"1","key":"bib10","doi-asserted-by":"publisher","first-page":"16713","DOI":"10.1038\/s41598-017-16308-2","article-title":"Repair of the TGFBI gene in human corneal keratocytes derived from a granular corneal dystrophy patient via CRISPR\/Cas9-induced homology-directed repair","volume":"7","author":"Taketani","year":"2017","journal-title":"Sci Rep"},{"issue":"4","key":"bib11","doi-asserted-by":"publisher","first-page":"910","DOI":"10.1016\/j.cell.2013.04.025","article-title":"One-step generation of mice carrying mutations in multiple genes by CRISPR\/Cas-mediated genome engineering","volume":"153","author":"Wang","year":"2013","journal-title":"Cell"},{"issue":"17","key":"bib12","doi-asserted-by":"publisher","first-page":"884","DOI":"10.1093\/bioinformatics\/bty560","article-title":"fastp: an ultra-fast all-in-one FASTQ preprocessor","volume":"34","author":"Chen","year":"2018","journal-title":"Bioinformatics"},{"issue":"4","key":"bib13","doi-asserted-by":"publisher","first-page":"357","DOI":"10.1038\/nmeth.3317","article-title":"HISAT: a fast spliced aligner with low memory requirements","volume":"12","author":"Kim","year":"2015","journal-title":"Nat Methods"},{"issue":"3","key":"bib14","doi-asserted-by":"publisher","first-page":"R22","DOI":"10.1186\/gb-2011-12-3-r22","article-title":"Improving RNA-seq expression estimates by correcting for fragment bias","volume":"12","author":"Roberts","year":"2011","journal-title":"Genome Biol"},{"issue":"2","key":"bib15","doi-asserted-by":"publisher","first-page":"166","DOI":"10.1093\/bioinformatics\/btu638","article-title":"HTSeq\u2013a Python framework to work with high-throughput sequencing data","volume":"31","author":"Anders","year":"2015","journal-title":"Bioinformatics"},{"issue":"9","key":"bib16","doi-asserted-by":"crossref","first-page":"559","DOI":"10.1186\/1471-2105-9-559","article-title":"WGCNA: an R package for weighted correlation network analysis","author":"Langfelder","year":"2008","journal-title":"BMC Bioinformatics"},{"key":"bib17","doi-asserted-by":"publisher","first-page":"7","DOI":"10.1186\/1471-2105-14-7","article-title":"GSVA: gene set variation analysis for microarray and RNA-seq data","volume":"14","author":"Hanzelmann","year":"2013","journal-title":"BMC Bioinformatics"},{"issue":"2","key":"bib18","doi-asserted-by":"publisher","first-page":"207","DOI":"10.1080\/15548627.2017.1378838","article-title":"Autophagy pathway: cellular and molecular mechanisms","volume":"14","author":"Yu","year":"2018","journal-title":"Autophagy"},{"key":"bib19","first-page":"1942","article-title":"Anterior segment dysgenesis after overexpression of transforming growth factor-\u00df-induced gene, \u00dfigh3, in the mouse eye","volume":"13","author":"Kim","year":"2007","journal-title":"Mol Vis"},{"key":"bib20","first-page":"1129","article-title":"Overexpression of a mutant form of TGFBI\/BIGH3 induces retinal degeneration in transgenic mice","volume":"14","author":"Bustamante","year":"2008","journal-title":"Mol Vis"},{"issue":"6","key":"bib21","doi-asserted-by":"publisher","first-page":"e1900072","DOI":"10.1002\/prca.201900072","article-title":"Protein analysis of the TGFBIR124H mouse model gives insight into phenotype development of granular corneal dystrophy","volume":"14","author":"Lukassen","year":"2020","journal-title":"Proteomics Clin Appl"},{"issue":"1","key":"bib22","doi-asserted-by":"publisher","first-page":"2000","DOI":"10.1038\/s41598-020-58876-w","article-title":"Generation of mouse model of TGFBI-R124C corneal dystrophy using CRISPR\/Cas9-mediated homology-directed repair","volume":"10","author":"Kitamoto","year":"2020","journal-title":"Sci Rep"},{"issue":"5","key":"bib23","doi-asserted-by":"publisher","first-page":"e113","DOI":"10.1097\/ICO.0b013e3182700620","article-title":"Changes of clinical manifestation of granular corneal deposits because of recurrent corneal erosion in granular corneal dystrophy types 1 and 2","volume":"32","author":"Han","year":"2013","journal-title":"Cornea"},{"issue":"3","key":"bib24","doi-asserted-by":"publisher","first-page":"247","DOI":"10.1038\/ng0397-247","article-title":"Kerato-epithelin mutations in four 5q31-linked corneal dystrophies","volume":"15","author":"Munier","year":"1997","journal-title":"Nat Genet"},{"issue":"16","key":"bib25","doi-asserted-by":"publisher","first-page":"2821","DOI":"10.1021\/bi400212m","article-title":"The insoluble TGFBIp fraction of the cornea is covalently linked via a disulfide bond to type XII collagen","volume":"52","author":"Runager","year":"2013","journal-title":"Biochemistry"},{"issue":"4","key":"bib26","doi-asserted-by":"publisher","first-page":"e0119561","DOI":"10.1371\/journal.pone.0119561","article-title":"Lysosomal trafficking of TGFBIp via caveolae-mediated endocytosis","volume":"10","author":"Choi","year":"2015","journal-title":"PLoS One"},{"key":"bib27","doi-asserted-by":"publisher","first-page":"29","DOI":"10.1186\/s11658-016-0031-z","article-title":"p62 links the autophagy pathway and the ubiqutin-proteasome system upon ubiquitinated protein degradation","volume":"21","author":"Liu","year":"2016","journal-title":"Cell Mol Biol Lett"},{"issue":"12","key":"bib28","doi-asserted-by":"publisher","first-page":"1782","DOI":"10.4161\/auto.22067","article-title":"Impaired autophagy and delayed autophagic clearance of transforming growth factor \u00df-induced protein (TGFBI) in granular corneal dystrophy type 2","volume":"8","author":"Choi","year":"2012","journal-title":"Autophagy"},{"key":"bib29","doi-asserted-by":"publisher","first-page":"14","DOI":"10.1016\/j.exer.2015.09.008","article-title":"Autophagy in granular corneal dystrophy type 2","volume":"144","author":"Choi","year":"2016","journal-title":"Exp Eye Res"},{"issue":"4","key":"bib30","doi-asserted-by":"publisher","first-page":"519","DOI":"10.1097\/ICO.0000000000002655","article-title":"Exacerbation of granular corneal dystrophy type 2 after small incision lenticule extraction","volume":"40","author":"Kwak","year":"2021","journal-title":"Cornea"},{"issue":"5","key":"bib31","doi-asserted-by":"publisher","first-page":"648","DOI":"10.1097\/ICO.0000000000003490","article-title":"Unilateral granular type 2 corneal dystrophy with exacerbation after LASIK","volume":"43","author":"Bostan","year":"2024","journal-title":"Cornea"},{"issue":"2","key":"bib32","doi-asserted-by":"publisher","first-page":"684","DOI":"10.1016\/j.ajpath.2011.04.005","article-title":"Altered mitochondrial function in type 2 granular corneal dystrophy","volume":"179","author":"Kim","year":"2011","journal-title":"Am J Pathol"},{"issue":"1","key":"bib33","doi-asserted-by":"publisher","first-page":"33","DOI":"10.1016\/j.clae.2009.09.005","article-title":"Confocal microscopy and optical coherence tomography imaging of hereditary granular dystrophy","volume":"33","author":"Dalton","year":"2010","journal-title":"Cont Lens Anterior Eye"}],"container-title":["Investigative Ophthalmology & Visual Science"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/iovs.arvojournals.org\/article.aspx?articleid=2810770","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T21:32:11Z","timestamp":1791927131000},"score":1,"resource":{"primary":{"URL":"https:\/\/iovs.arvojournals.org\/article.aspx?articleid=2810770"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,9,3]]},"references-count":33,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2025,9,2]]}},"URL":"https:\/\/doi.org\/10.1167\/iovs.66.12.7","relation":{},"ISSN":["1552-5783"],"issn-type":[{"value":"1552-5783","type":"print"}],"subject":[],"published":{"date-parts":[[2025,9,3]]}}}