{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T17:50:49Z","timestamp":1786989049124,"version":"build-2736575974"},"reference-count":21,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2023,4,1]],"date-time":"2023-04-01T00:00:00Z","timestamp":1680307200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2023,4,1]],"date-time":"2023-04-01T00:00:00Z","timestamp":1680307200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2024,3,2]],"date-time":"2024-03-02T00:00:00Z","timestamp":1709337600000},"content-version":"am","delay-in-days":336,"URL":"http:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"},{"start":{"date-parts":[[2023,4,1]],"date-time":"2023-04-01T00:00:00Z","timestamp":1680307200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2023,4,1]],"date-time":"2023-04-01T00:00:00Z","timestamp":1680307200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2023,4,1]],"date-time":"2023-04-01T00:00:00Z","timestamp":1680307200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2023,4,1]],"date-time":"2023-04-01T00:00:00Z","timestamp":1680307200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2023,4,1]],"date-time":"2023-04-01T00:00:00Z","timestamp":1680307200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"funder":[{"DOI":"10.13039\/100005800","name":"Eye Bank Association of America","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100005800","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000024","name":"Canadian Institutes of Health Research","doi-asserted-by":"publisher","award":["PJT-156345"],"award-info":[{"award-number":["PJT-156345"]}],"id":[{"id":"10.13039\/501100000024","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000053","name":"National Eye Institute","doi-asserted-by":"publisher","award":["EY027077-01"],"award-info":[{"award-number":["EY027077-01"]}],"id":[{"id":"10.13039\/100000053","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000053","name":"National Eye Institute","doi-asserted-by":"publisher","award":["P30-EY025585"],"award-info":[{"award-number":["P30-EY025585"]}],"id":[{"id":"10.13039\/100000053","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000053","name":"National Eye Institute","doi-asserted-by":"publisher","award":["RPB1503"],"award-info":[{"award-number":["RPB1503"]}],"id":[{"id":"10.13039\/100000053","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100001502","name":"Blue Cross Blue Shield of Michigan Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100001502","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100001818","name":"Research to Prevent Blindness","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100001818","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Experimental Eye Research"],"published-print":{"date-parts":[[2023,4]]},"DOI":"10.1016\/j.exer.2023.109433","type":"journal-article","created":{"date-parts":[[2023,2,27]],"date-time":"2023-02-27T11:10:35Z","timestamp":1677496235000},"page":"109433","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":10,"special_numbering":"C","title":["Histological characterization of retinal degeneration in mucopolysaccharidosis type IIIC"],"prefix":"10.1016","volume":"229","author":[{"given":"Jessica","family":"Ludwig","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Onkar B.","family":"Sawant","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jill","family":"Wood","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Srikanth","family":"Singamsetty","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xuefang","family":"Pan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vera L.","family":"Bonilha","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sujata","family":"Rao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexey V.","family":"Pshezhetsky","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"1","key":"10.1016\/j.exer.2023.109433_bib1","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1093\/glycob\/11.1.99","article-title":"A novel missense mutation in lysosomal sulfamidase is the basis of MPS III A in a spontaneous mouse mutant","volume":"11","author":"Bhattacharyya","year":"2001","journal-title":"Glycobiology"},{"issue":"8","key":"10.1016\/j.exer.2023.109433_bib2","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1167\/iovs.61.8.15","article-title":"Geographic atrophy: confocal scanning laser ophthalmoscopy, histology, and inflammation in the region of expanding lesions","volume":"61","author":"Bonilha","year":"2020","journal-title":"Invest. Ophthalmol. Vis. Sci."},{"issue":"10","key":"10.1016\/j.exer.2023.109433_bib3","doi-asserted-by":"crossref","DOI":"10.3390\/genes8100256","article-title":"The genetic basis of pericentral retinitis pigmentosa-A form of mild retinitis pigmentosa","volume":"8","author":"Comander","year":"2017","journal-title":"Genes"},{"issue":"1","key":"10.1016\/j.exer.2023.109433_bib4","doi-asserted-by":"crossref","first-page":"117","DOI":"10.1016\/j.brainres.2006.05.079","article-title":"Characterization of a C57BL\/6 congenic mouse strain of mucopolysaccharidosis type IIIA","volume":"1104","author":"Crawley","year":"2006","journal-title":"Brain Res."},{"issue":"8","key":"10.1016\/j.exer.2023.109433_bib5","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0000772","article-title":"Development of sensory, motor and behavioral deficits in the murine model of Sanfilippo syndrome type B","volume":"2","author":"Heldermon","year":"2007","journal-title":"PLoS One"},{"key":"10.1016\/j.exer.2023.109433_bib6","doi-asserted-by":"crossref","first-page":"132","DOI":"10.3389\/fcell.2020.00132","article-title":"Retinal degeneration in MPS-IIIA mouse model","volume":"8","author":"Intartaglia","year":"2020","journal-title":"Front. Cell Dev. Biol."},{"issue":"3","key":"10.1016\/j.exer.2023.109433_bib7","doi-asserted-by":"crossref","first-page":"198","DOI":"10.1016\/j.ymgme.2016.05.006","article-title":"A phase 1\/2 study of intrathecal heparan-N-sulfatase in patients with mucopolysaccharidosis IIIA","volume":"118","author":"Jones","year":"2016","journal-title":"Mol. Genet. Metabol."},{"issue":"10","key":"10.1016\/j.exer.2023.109433_bib8","doi-asserted-by":"crossref","first-page":"5185","DOI":"10.1073\/pnas.75.10.5185","article-title":"Sanfilippo syndrome type C: deficiency of acetyl-CoA:alpha-glucosaminide N-acetyltransferase in skin fibroblasts","volume":"75","author":"Klein","year":"1978","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"issue":"25","key":"10.1016\/j.exer.2023.109433_bib9","doi-asserted-by":"crossref","first-page":"14505","DOI":"10.1073\/pnas.96.25.14505","article-title":"Mouse model of Sanfilippo syndrome type B produced by targeted disruption of the gene encoding alpha-N-acetylglucosaminidase","volume":"96","author":"Li","year":"1999","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"issue":"9","key":"10.1016\/j.exer.2023.109433_bib10","doi-asserted-by":"crossref","first-page":"999","DOI":"10.1242\/dmm.025171","article-title":"Progressive neurologic and somatic disease in a novel mouse model of human mucopolysaccharidosis type IIIC","volume":"9","author":"Marco","year":"2016","journal-title":"Dis Model Mech"},{"issue":"Pt 2","key":"10.1016\/j.exer.2023.109433_bib11","doi-asserted-by":"crossref","first-page":"336","DOI":"10.1093\/brain\/awu355","article-title":"Neuroinflammation, mitochondrial defects and neurodegeneration in mucopolysaccharidosis III type C mouse model","volume":"138","author":"Martins","year":"2015","journal-title":"Brain"},{"issue":"1","key":"10.1016\/j.exer.2023.109433_bib12","doi-asserted-by":"crossref","first-page":"249","DOI":"10.1186\/s13023-019-1232-0","article-title":"The attenuated end of the phenotypic spectrum in MPS III: from late-onset stable cognitive impairment to a non-neuronopathic phenotype","volume":"14","author":"Nijmeijer","year":"2019","journal-title":"Orphanet J. Rare Dis."},{"issue":"8","key":"10.1016\/j.exer.2023.109433_bib13","doi-asserted-by":"crossref","DOI":"10.1084\/jem.20211860","article-title":"Glucosamine amends CNS pathology in mucopolysaccharidosis IIIC mouse expressing misfolded HGSNAT","volume":"219","author":"Pan","year":"2022","journal-title":"J. Exp. Med."},{"issue":"13","key":"10.1016\/j.exer.2023.109433_bib14","doi-asserted-by":"crossref","first-page":"8248","DOI":"10.1167\/iovs.15-17743","article-title":"Light-regulated thyroid hormone signaling is required for rod photoreceptor development in the mouse retina","volume":"56","author":"Sawant","year":"2015","journal-title":"Invest. Ophthalmol. Vis. Sci."},{"issue":"3","key":"10.1016\/j.exer.2023.109433_bib15","doi-asserted-by":"crossref","first-page":"692","DOI":"10.1016\/j.celrep.2017.09.069","article-title":"The circadian clock gene Bmal1 controls thyroid hormone-mediated spectral identity and cone photoreceptor function","volume":"21","author":"Sawant","year":"2017","journal-title":"Cell Rep."},{"issue":"13","key":"10.1016\/j.exer.2023.109433_bib16","doi-asserted-by":"crossref","first-page":"36","DOI":"10.1167\/iovs.61.13.36","article-title":"Thyroid activating enzyme, deiodinase II is required for photoreceptor function in the mouse model of retinopathy of prematurity","volume":"61","author":"Sawant","year":"2020","journal-title":"Invest. Ophthalmol. Vis. Sci."},{"issue":"3","key":"10.1016\/j.exer.2023.109433_bib17","doi-asserted-by":"crossref","first-page":"631","DOI":"10.1002\/ajmg.c.31822","article-title":"A genetic and clinical study of individuals with nonsyndromic retinopathy consequent upon sequence variants in HGSNAT, the gene associated with Sanfilippo C mucopolysaccharidosis","volume":"184","author":"Schiff","year":"2020","journal-title":"Am J Med Genet C Semin Med Genet"},{"issue":"24","key":"10.1016\/j.exer.2023.109433_bib18","doi-asserted-by":"crossref","first-page":"476","DOI":"10.21037\/atm.2018.11.39","article-title":"Lysosomal storage disease overview","volume":"6","author":"Sun","year":"2018","journal-title":"Ann. Transl. Med."},{"issue":"1","key":"10.1016\/j.exer.2023.109433_bib19","doi-asserted-by":"crossref","DOI":"10.1038\/srep17143","article-title":"Electrophysiological and histological characterization of rod-cone retinal degeneration and microglia activation in a mouse model of mucopolysaccharidosis type IIIB","volume":"5","author":"Tse","year":"2015","journal-title":"Sci. Rep."},{"issue":"4","key":"10.1016\/j.exer.2023.109433_bib20","doi-asserted-by":"crossref","first-page":"457","DOI":"10.1038\/gim.2016.119","article-title":"arrEYE: a customized platform for high-resolution copy number analysis of coding and noncoding regions of known and candidate retinal dystrophy genes and retinal noncoding RNAs","volume":"19","author":"Van Cauwenbergh","year":"2017","journal-title":"Genet. Med."},{"key":"10.1016\/j.exer.2023.109433_bib21","first-page":"63","article-title":"Early umbilical cord blood-derived stem cell transplantation does not prevent neurological deterioration in mucopolysaccharidosis type III","volume":"18","author":"Welling","year":"2015","journal-title":"JIMD Rep"}],"container-title":["Experimental Eye Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0014483523000544?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0014483523000544?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,11,3]],"date-time":"2025-11-03T05:33:55Z","timestamp":1762148035000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0014483523000544"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,4]]},"references-count":21,"alternative-id":["S0014483523000544"],"URL":"https:\/\/doi.org\/10.1016\/j.exer.2023.109433","relation":{},"ISSN":["0014-4835"],"issn-type":[{"value":"0014-4835","type":"print"}],"subject":[],"published":{"date-parts":[[2023,4]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Histological characterization of retinal degeneration in mucopolysaccharidosis type IIIC","name":"articletitle","label":"Article Title"},{"value":"Experimental Eye Research","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.exer.2023.109433","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2023 Elsevier Ltd. All rights reserved.","name":"copyright","label":"Copyright"}],"article-number":"109433"}}