{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T00:22:23Z","timestamp":1791246143321,"version":"4.1.0"},"reference-count":49,"publisher":"Elsevier BV","issue":"4","license":[{"start":{"date-parts":[[2009,10,1]],"date-time":"2009-10-01T00:00:00Z","timestamp":1254355200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Experimental Eye Research"],"published-print":{"date-parts":[[2009,10]]},"DOI":"10.1016\/j.exer.2009.05.007","type":"journal-article","created":{"date-parts":[[2009,6,12]],"date-time":"2009-06-12T12:00:07Z","timestamp":1244808007000},"page":"568-574","source":"Crossref","is-referenced-by-count":40,"title":["Expression of the diabetes risk gene wolframin (WFS1) in the human retina"],"prefix":"10.1016","volume":"89","author":[{"given":"Rainald","family":"Schmidt-Kastner","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pawel","family":"Kreczmanski","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Markus","family":"Preising","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roselie","family":"Diederen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christoph","family":"Schmitz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Danielle","family":"Reis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Janet","family":"Blanks","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C. Kathleen","family":"Dorey","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.exer.2009.05.007_bib1","doi-asserted-by":"crossref","first-page":"84","DOI":"10.1177\/112067210201200202","article-title":"Ophthalmologic findings in fifteen patients with Wolfram syndrome","volume":"12","author":"Al-Till","year":"2002","journal-title":"Eur. J. Ophthalmol."},{"key":"10.1016\/j.exer.2009.05.007_bib2","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1111\/j.1471-4159.2005.03502.x","article-title":"NMDA-induced retinal injury is mediated by an endoplasmic reticulum stress-related protein, CHOP\/GADD153","volume":"96","author":"Awai","year":"2006","journal-title":"J. Neurochem."},{"key":"10.1016\/j.exer.2009.05.007_bib3","doi-asserted-by":"crossref","first-page":"882","DOI":"10.1038\/eye.1997.226","article-title":"Optic atrophy in Wolfram (DIDMOAD) syndrome","volume":"11","author":"Barrett","year":"1997","journal-title":"Eye"},{"key":"10.1016\/j.exer.2009.05.007_bib4","doi-asserted-by":"crossref","first-page":"463","DOI":"10.1136\/jmg.37.6.463","article-title":"The mitochondrial genome in Wolfram syndrome","volume":"37","author":"Barrett","year":"2000","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.exer.2009.05.007_bib5","doi-asserted-by":"crossref","first-page":"2305","DOI":"10.1167\/iovs.05-1437","article-title":"Defining the human macula transcriptome and candidate retinal disease genes using EyeSAGE","volume":"47","author":"Bowes Rickman","year":"2006","journal-title":"Invest. Ophthalmol. Vis. Sci."},{"key":"10.1016\/j.exer.2009.05.007_bib6","doi-asserted-by":"crossref","first-page":"2327","DOI":"10.2337\/dc07-0380","article-title":"Microvascular diabetes complications in Wolfram syndrome (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness [DIDMOAD])","volume":"30","author":"Cano","year":"2007","journal-title":"Diabetes Care"},{"key":"10.1016\/j.exer.2009.05.007_bib7","doi-asserted-by":"crossref","first-page":"53","DOI":"10.1016\/j.preteyeres.2003.10.003","article-title":"Mitochondrial dysfunction as a cause of optic neuropathies","volume":"23","author":"Carelli","year":"2004","journal-title":"Prog. Retin. Eye Res."},{"key":"10.1016\/j.exer.2009.05.007_bib9","doi-asserted-by":"crossref","first-page":"389","DOI":"10.1007\/s00439-002-0719-1","article-title":"Mutations in the WFS1 gene that cause low-frequency sensorineural hearing loss are small non-inactivating mutations","volume":"110","author":"Cryns","year":"2002","journal-title":"Hum. Genet."},{"key":"10.1016\/j.exer.2009.05.007_bib10","doi-asserted-by":"crossref","first-page":"207","DOI":"10.1038\/79936","article-title":"Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy","volume":"26","author":"Delettre","year":"2000","journal-title":"Nat. Genet."},{"key":"10.1016\/j.exer.2009.05.007_bib11","doi-asserted-by":"crossref","first-page":"38","DOI":"10.1016\/S0008-4182(06)80064-5","article-title":"Pigmentary maculopathy in a patient with Wolfram syndrome","volume":"41","author":"Dhalla","year":"2006","journal-title":"Can. J. Ophthalmol."},{"key":"10.1016\/j.exer.2009.05.007_bib12","doi-asserted-by":"crossref","first-page":"155","DOI":"10.1006\/exer.1996.0020","article-title":"ARPE-19, a human retinal pigment epithelial cell line with differentiated properties","volume":"62","author":"Dunn","year":"1996","journal-title":"Exp. Eye Res."},{"key":"10.1016\/j.exer.2009.05.007_bib13","doi-asserted-by":"crossref","first-page":"451","DOI":"10.1007\/s00125-007-0891-x","article-title":"Testing of diabetes-associated WFS1 polymorphisms in the Diabetes Prevention Program","volume":"51","author":"Florez","year":"2008","journal-title":"Diabetologia"},{"key":"10.1016\/j.exer.2009.05.007_bib14","doi-asserted-by":"crossref","first-page":"39609","DOI":"10.1074\/jbc.M507426200","article-title":"WFS1 is a novel component of the unfolded protein response and maintains homeostasis of the endoplasmic reticulum in pancreatic beta-cells","volume":"280","author":"Fonseca","year":"2005","journal-title":"J.\u00a0Biol. Chem."},{"key":"10.1016\/j.exer.2009.05.007_bib15","doi-asserted-by":"crossref","first-page":"48","DOI":"10.1056\/NEJMra021678","article-title":"Diabetic retinopathy","volume":"350","author":"Frank","year":"2004","journal-title":"N. Engl. J. Med."},{"key":"10.1016\/j.exer.2009.05.007_bib16","doi-asserted-by":"crossref","first-page":"458","DOI":"10.1007\/s00125-007-0887-6","article-title":"Replication of the association between variants in WFS1 and risk of type 2 diabetes in European populations","volume":"51","author":"Franks","year":"2008","journal-title":"Diabetologia"},{"key":"10.1016\/j.exer.2009.05.007_bib17","doi-asserted-by":"crossref","first-page":"2635","DOI":"10.1167\/iovs.07-0683","article-title":"Dendrite remodeling and other abnormalities in the retinal ganglion cells of Ins2 Akita diabetic mice","volume":"49","author":"Gastinger","year":"2008","journal-title":"Invest. Ophthalmol. Vis. Sci."},{"key":"10.1016\/j.exer.2009.05.007_bib18","doi-asserted-by":"crossref","first-page":"677","DOI":"10.1007\/s00417-008-0770-2","article-title":"Endoplasmic reticulum stress induced by oxidative stress in retinal pigment epithelium","volume":"246","author":"He","year":"2008","journal-title":"Graefes Arch. Clin. Exp. Ophthalmol."},{"key":"10.1016\/j.exer.2009.05.007_bib19","doi-asserted-by":"crossref","first-page":"2003","DOI":"10.1093\/hmg\/ddg214","article-title":"Wolfram syndrome: structural and functional analyses of mutant and wild-type wolframin, the WFS1 gene product","volume":"12","author":"Hofmann","year":"2003","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.exer.2009.05.007_bib20","doi-asserted-by":"crossref","first-page":"4000","DOI":"10.1016\/j.febslet.2006.06.036","article-title":"Wolfram syndrome-associated mutations lead to instability and proteasomal degradation of wolframin","volume":"580","author":"Hofmann","year":"2006","journal-title":"FEBS Lett."},{"key":"10.1016\/j.exer.2009.05.007_bib21","doi-asserted-by":"crossref","first-page":"20","DOI":"10.1086\/380912","article-title":"Dissection of genomewide-scan data in extended families reveals a major locus and oligogenic susceptibility for age-related macular degeneration","volume":"74","author":"Iyengar","year":"2004","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.exer.2009.05.007_bib22","doi-asserted-by":"crossref","first-page":"143","DOI":"10.1038\/2441","article-title":"A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome)","volume":"20","author":"Inoue","year":"1998","journal-title":"Nat. Genet."},{"key":"10.1016\/j.exer.2009.05.007_bib23","doi-asserted-by":"crossref","first-page":"1159","DOI":"10.1093\/hmg\/ddh125","article-title":"Disruption of the WFS1 gene in mice causes progressive beta-cell loss and impaired stimulus-secretion coupling in insulin secretion","volume":"13","author":"Ishihara","year":"2004","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.exer.2009.05.007_bib24","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1002\/cne.21734","article-title":"Wolfram syndrome 1 (Wfs1) gene expression in the normal mouse visual system","volume":"510","author":"Kawano","year":"2008","journal-title":"J. Comp. Neurol."},{"key":"10.1016\/j.exer.2009.05.007_bib25","doi-asserted-by":"crossref","first-page":"162","DOI":"10.1136\/jmg.39.3.162","article-title":"Leber hereditary optic neuropathy","volume":"39","author":"Man","year":"2002","journal-title":"J.\u00a0Med. Genet."},{"key":"10.1016\/j.exer.2009.05.007_bib26","doi-asserted-by":"crossref","first-page":"159","DOI":"10.3109\/13816818609004133","article-title":"Optic atrophy in Wolfram syndrome","volume":"7","author":"Mtanda","year":"1986","journal-title":"Ophthalmic Paediatr. Genet."},{"key":"10.1016\/j.exer.2009.05.007_bib27","doi-asserted-by":"crossref","first-page":"517","DOI":"10.1016\/j.ajo.2005.03.017","article-title":"Hereditary optic neuropathies: from the mitochondria to the optic nerve","volume":"140","author":"Newman","year":"2005","journal-title":"Am. J. Ophthalmol."},{"key":"10.1016\/j.exer.2009.05.007_bib28","doi-asserted-by":"crossref","first-page":"278","DOI":"10.3129\/can j ophthalmol.i07-036","article-title":"From ocular hypertension to ganglion cell death: a theoretical sequence of events leading to glaucoma","volume":"42","author":"Nickells","year":"2007","journal-title":"Can. J. Ophthalmol."},{"key":"10.1016\/j.exer.2009.05.007_bib29","doi-asserted-by":"crossref","first-page":"52755","DOI":"10.1074\/jbc.M310331200","article-title":"Wolframin expression induces novel ion channel activity in endoplasmic reticulum membranes and increases intracellular calcium","volume":"278","author":"Osman","year":"2003","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.exer.2009.05.007_bib30","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1097\/00004647-199901000-00001","article-title":"Disturbances of the functioning of endoplasmic reticulum: a key mechanism underlying neuronal cell injury?","volume":"19","author":"Paschen","year":"1999","journal-title":"J. Cereb. Blood Flow Metab."},{"key":"10.1016\/j.exer.2009.05.007_bib31","doi-asserted-by":"crossref","first-page":"671","DOI":"10.1016\/j.exger.2005.06.008","article-title":"Expressional and functional studies of Wolframin, the gene function deficient in Wolfram syndrome, in mice and patient cells","volume":"40","author":"Philbrook","year":"2005","journal-title":"Exp. Gerontol."},{"key":"10.1016\/j.exer.2009.05.007_bib33","doi-asserted-by":"crossref","first-page":"366","DOI":"10.1016\/j.exer.2007.05.006","article-title":"Disease susceptibility of the human macula: differential gene transcription in the retinal pigmented epithelium\/choroid","volume":"85","author":"Radeke","year":"2007","journal-title":"Exp. Eye Res."},{"key":"10.1016\/j.exer.2009.05.007_bib34","doi-asserted-by":"crossref","first-page":"2313","DOI":"10.1007\/s00125-005-1947-4","article-title":"Mice conditionally lacking the Wolfram gene in pancreatic islet beta cells exhibit diabetes as a result of enhanced endoplasmic reticulum stress and apoptosis","volume":"48","author":"Riggs","year":"2005","journal-title":"Diabetologia"},{"key":"10.1016\/j.exer.2009.05.007_bib35","doi-asserted-by":"crossref","first-page":"3973","DOI":"10.1167\/iovs.05-0070","article-title":"Aberrant accumulation of fibulin-3 in the endoplasmic reticulum leads to activation of the unfolded protein response and VEGF expression","volume":"46","author":"Roybal","year":"2005","journal-title":"Invest. Ophthalmol. Vis. Sci."},{"key":"10.1016\/j.exer.2009.05.007_bib36","doi-asserted-by":"crossref","first-page":"951","DOI":"10.1038\/ng2067","article-title":"Common variants in WFS1 confer risk of type 2 diabetes","volume":"39","author":"Sandhu","year":"2007","journal-title":"Nat. Genet."},{"key":"10.1016\/j.exer.2009.05.007_bib37","doi-asserted-by":"crossref","first-page":"29","DOI":"10.1586\/17469899.3.1.29","article-title":"Unfolding the therapeutic potential of chemical chaperones for age-related macular degeneration","volume":"3","author":"Sauer","year":"2008","journal-title":"Expert. Rev. Ophthalmol."},{"key":"10.1016\/j.exer.2009.05.007_bib38","first-page":"578","article-title":"Involvement of ER stress in retinal cell death","volume":"13","author":"Shimazawa","year":"2007","journal-title":"Mol. Vis."},{"key":"10.1016\/j.exer.2009.05.007_bib39","doi-asserted-by":"crossref","first-page":"1646","DOI":"10.1007\/s00125-008-1064-2","article-title":"Impact of polymorphisms in WFS1 on prediabetic phenotypes in a population-based sample of middle-aged people with normal and abnormal glucose regulation","volume":"51","author":"Spars\u00f8","year":"2008","journal-title":"Diabetologia"},{"key":"10.1016\/j.exer.2009.05.007_bib40","doi-asserted-by":"crossref","first-page":"2021","DOI":"10.1093\/hmg\/7.13.2021","article-title":"Diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD) caused by mutations in a novel gene (wolframin) coding for a predicted transmembrane protein","volume":"7","author":"Strom","year":"1998","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.exer.2009.05.007_bib41","doi-asserted-by":"crossref","first-page":"477","DOI":"10.1093\/hmg\/10.5.477","article-title":"WFS1 (Wolfram syndrome 1) gene product: predominant subcellular localization to endoplasmic reticulum in cultured cells and neuronal expression in rat brain","volume":"10","author":"Takeda","year":"2001","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.exer.2009.05.007_bib42","doi-asserted-by":"crossref","first-page":"5635","DOI":"10.1016\/j.febslet.2006.09.007","article-title":"WFS1 protein modulates the free Ca(2+) concentration in the endoplasmic reticulum","volume":"580","author":"Takei","year":"2006","journal-title":"FEBS Lett."},{"key":"10.1016\/j.exer.2009.05.007_bib43","doi-asserted-by":"crossref","first-page":"167","DOI":"10.1530\/eje.1.01945","article-title":"Endoplasmic reticulum stress induces Wfs1 gene expression in pancreatic beta-cells via transcriptional activation","volume":"153","author":"Ueda","year":"2005","journal-title":"Eur. J. Endocrinol."},{"key":"10.1016\/j.exer.2009.05.007_bib44","doi-asserted-by":"crossref","first-page":"201","DOI":"10.1152\/physrev.00004.2004","article-title":"Physiology and pathophysiology of the calcium store in the endoplasmic reticulum of neurons","volume":"85","author":"Verkhratsky","year":"2005","journal-title":"Physiol. Rev."},{"key":"10.1016\/j.exer.2009.05.007_bib45","doi-asserted-by":"crossref","first-page":"391","DOI":"10.1007\/s00125-007-0920-9","article-title":"Candidate gene studies reveal that the WFS1 gene joins the expanding list of novel type 2 diabetes genes","volume":"51","author":"Wasson","year":"2008","journal-title":"Diabetologia"},{"key":"10.1016\/j.exer.2009.05.007_bib46","first-page":"715","article-title":"Diabetes mellitus and simple optic atrophy among siblings: report of four cases","volume":"13","author":"Wolfram","year":"1938","journal-title":"Mayo Clin. Proc."},{"key":"10.1016\/j.exer.2009.05.007_bib47","doi-asserted-by":"crossref","first-page":"1600","DOI":"10.1093\/hmg\/ddl081","article-title":"WFS1-deficiency increases endoplasmic reticulum stress, impairs cell cycle progression and triggers the apoptotic pathway specifically in pancreatic beta-cells","volume":"15","author":"Yamada","year":"2006","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.exer.2009.05.007_bib48","doi-asserted-by":"crossref","first-page":"250","DOI":"10.1016\/j.bbrc.2004.10.017","article-title":"Endoplasmic reticulum stress and N-glycosylation modulate expression of WFS1 protein","volume":"325","author":"Yamaguchi","year":"2004","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"10.1016\/j.exer.2009.05.007_bib49","doi-asserted-by":"crossref","first-page":"1303","DOI":"10.1016\/j.exer.2006.06.010","article-title":"Wolfram syndrome 1 (WFS1) protein expression in retinal ganglion cells and optic nerve glia of the cynomolgus monkey","volume":"83","author":"Yamamoto","year":"2006","journal-title":"Exp. Eye Res."},{"key":"10.1016\/j.exer.2009.05.007_bib50","doi-asserted-by":"crossref","first-page":"3946","DOI":"10.1021\/bi900260y","article-title":"Identification and characterization of wolframin, the product of Wolfram Syndrome Gene (WFS1), as a novel calmodulin-binding protein","volume":"48","author":"Yurimoto","year":"2009","journal-title":"Biochemistry"},{"key":"10.1016\/j.exer.2009.05.007_bib51","doi-asserted-by":"crossref","first-page":"190","DOI":"10.1093\/hmg\/ddm296","article-title":"Sodium\u2013potassium ATPase 1 subunit is a molecular partner of Wolframin, an endoplasmic reticulum protein involved in ER stress","volume":"17","author":"Zatyka","year":"2008","journal-title":"Hum. Mol. Genet."}],"container-title":["Experimental Eye Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0014483509001523?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0014483509001523?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2019,5,20]],"date-time":"2019-05-20T21:42:02Z","timestamp":1558388522000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0014483509001523"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,10]]},"references-count":49,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2009,10]]}},"alternative-id":["S0014483509001523"],"URL":"https:\/\/doi.org\/10.1016\/j.exer.2009.05.007","relation":{},"ISSN":["0014-4835"],"issn-type":[{"value":"0014-4835","type":"print"}],"subject":[],"published":{"date-parts":[[2009,10]]}}}