{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,4]],"date-time":"2026-09-04T18:49:36Z","timestamp":1788547776926,"version":"build-2803163510"},"reference-count":52,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2018,12,1]],"date-time":"2018-12-01T00:00:00Z","timestamp":1543622400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"funder":[{"DOI":"10.13039\/501100001659","name":"DFG","doi-asserted-by":"publisher","award":["FR 3377\/1-1"],"award-info":[{"award-number":["FR 3377\/1-1"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001659","name":"DFG","doi-asserted-by":"publisher","award":["FR 3377\/1-2"],"award-info":[{"award-number":["FR 3377\/1-2"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100007306","name":"Bavarian Academy of Sciences and Humanities","doi-asserted-by":"publisher","award":["pr48fu"],"award-info":[{"award-number":["pr48fu"]}],"id":[{"id":"10.13039\/501100007306","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":[[2018,12]]},"DOI":"10.1016\/j.exer.2018.07.021","type":"journal-article","created":{"date-parts":[[2018,7,21]],"date-time":"2018-07-21T11:28:20Z","timestamp":1532172500000},"page":"23-34","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":21,"special_numbering":"C","title":["Pathomechanism of mutated and secreted retinoschisin in X-linked juvenile retinoschisis"],"prefix":"10.1016","volume":"177","author":[{"given":"Karolina","family":"Pl\u00f6ssl","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Verena","family":"Schmid","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4121-7516","authenticated-orcid":false,"given":"Kristina","family":"Straub","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carina","family":"Schmid","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mirjam","family":"Ammon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3521-2957","authenticated-orcid":false,"given":"Rainer","family":"Merkl","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8808-7723","authenticated-orcid":false,"given":"Bernhard H.F.","family":"Weber","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6872-4190","authenticated-orcid":false,"given":"Ulrike","family":"Friedrich","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.exer.2018.07.021_bib1","doi-asserted-by":"crossref","first-page":"5696","DOI":"10.1046\/j.0014-2956.2001.02509.x","article-title":"Mutations at position 125 in transmembrane helix III of rhodopsin affect the structure and signalling of the receptor","volume":"268","author":"Andres","year":"2001","journal-title":"Eur. J. Biochem."},{"key":"10.1016\/j.exer.2018.07.021_bib2","doi-asserted-by":"crossref","first-page":"5","DOI":"10.1016\/0306-4522(95)00146-A","article-title":"Increased expression and subcellular translocation of the mitogen activated protein kinase kinase and mitogen-activated protein kinase in Alzheimer's disease","volume":"68","author":"Arendt","year":"1995","journal-title":"Neuroscience"},{"key":"10.1016\/j.exer.2018.07.021_bib3","first-page":"437","article-title":"\u00dcber die Entstehung von Netzhautabl\u00f6sungen","volume":"91","author":"Bartels","year":"1933","journal-title":"Klin. Mbl. Augenheilk"},{"key":"10.1016\/j.exer.2018.07.021_bib4","doi-asserted-by":"crossref","first-page":"1626","DOI":"10.1002\/pro.5560070717","article-title":"The discoidin domain family revisited: new members from prokaryotes and a homology-based fold prediction","volume":"7","author":"Baumgartner","year":"1998","journal-title":"Protein Sci."},{"key":"10.1016\/j.exer.2018.07.021_bib5","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1016\/0010-4655(95)00042-E","article-title":"GROMACS: a message-passing parallel molecular dynamics implementation","volume":"91","author":"Berendsen","year":"1995","journal-title":"Comput. Phys. Commun."},{"key":"10.1016\/j.exer.2018.07.021_bib6","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0147653","article-title":"Cog-wheel octameric structure of RS1, the discoidin domain containing retinal protein associated with X-Linked retinoschisis","volume":"11","author":"Bush","year":"2016","journal-title":"PLoS One"},{"key":"10.1016\/j.exer.2018.07.021_bib7","doi-asserted-by":"crossref","first-page":"140","DOI":"10.1038\/nchembio.283","article-title":"A causative link between the structure of aberrant protein oligomers and their toxicity","volume":"6","author":"Campioni","year":"2010","journal-title":"Nat. Chem. Biol."},{"key":"10.1016\/j.exer.2018.07.021_bib8","doi-asserted-by":"crossref","first-page":"37","DOI":"10.1038\/35065000","article-title":"Mammalian MAP kinase signalling cascades","volume":"410","author":"Chang","year":"2001","journal-title":"Nature"},{"key":"10.1016\/j.exer.2018.07.021_bib9","doi-asserted-by":"crossref","first-page":"133","DOI":"10.1098\/rstb.2000.0758","article-title":"The structural basis of protein folding and its links with human disease","volume":"356","author":"Dobson","year":"2001","journal-title":"Philos. Trans. R. Soc. Lond. B Biol. Sci."},{"key":"10.1016\/j.exer.2018.07.021_bib10","doi-asserted-by":"crossref","first-page":"729","DOI":"10.1038\/418729a","article-title":"Getting out of shape","volume":"418","author":"Dobson","year":"2002","journal-title":"Nature"},{"key":"10.1016\/j.exer.2018.07.021_bib11","doi-asserted-by":"crossref","first-page":"2217","DOI":"10.1007\/s00417-016-3456-1","article-title":"Role of RhoA\/MERK1\/ERK1\/2\/iNOS signaling in ocular ischemic syndrome","volume":"254","author":"Du","year":"2016","journal-title":"Graefes Arch. Clin. Exp. Ophthalmol."},{"key":"10.1016\/j.exer.2018.07.021_bib12","doi-asserted-by":"crossref","first-page":"C723","DOI":"10.1152\/ajpcell.00462.2010","article-title":"A practical guide to evaluating colocalization in biological microscopy","volume":"300","author":"Dunn","year":"2011","journal-title":"Am. J. Physiol. Cell Physiol."},{"key":"10.1016\/j.exer.2018.07.021_bib13","doi-asserted-by":"crossref","first-page":"2491","DOI":"10.1167\/iovs.06-1465","article-title":"Coexpression and interaction of wild-type and missense RS1 mutants associated with X-linked retinoschisis: its relevance to gene therapy","volume":"48","author":"Dyka","year":"2007","journal-title":"Invest. Ophthalmol. Vis. Sci."},{"key":"10.1016\/j.exer.2018.07.021_bib14","doi-asserted-by":"crossref","first-page":"9098","DOI":"10.1021\/bi800938g","article-title":"Characterization and purification of the discoidin domain-containing protein retinoschisin and its interaction with galactose","volume":"47","author":"Dyka","year":"2008","journal-title":"Biochemistry"},{"key":"10.1016\/j.exer.2018.07.021_bib15","doi-asserted-by":"crossref","first-page":"R9","DOI":"10.1016\/S1359-0278(98)00002-9","article-title":"Protein aggregation: folding aggregates, inclusion bodies and amyloid","volume":"3","author":"Fink","year":"1998","journal-title":"Folding Des."},{"key":"10.1016\/j.exer.2018.07.021_bib16","doi-asserted-by":"crossref","first-page":"1132","DOI":"10.1093\/hmg\/ddq557","article-title":"The Na\/K-ATPase is obligatory for membrane anchorage of retinoschisin, the protein involved in the pathogenesis of X-linked juvenile retinoschisis","volume":"20","author":"Friedrich","year":"2011","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.exer.2018.07.021_bib17","doi-asserted-by":"crossref","first-page":"4560","DOI":"10.1073\/pnas.93.10.4560","article-title":"Structure and function in rhodopsin: correct folding and misfolding in point mutants at and in proximity to the site of the retinitis pigmentosa mutation Leu-125-->Arg in the transmembrane helix C","volume":"93","author":"Garriga","year":"1996","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"10.1016\/j.exer.2018.07.021_bib18","doi-asserted-by":"crossref","first-page":"891","DOI":"10.1167\/iovs.06-0641","article-title":"Genome-wide expression profiling of the retinoschisin-deficient retina in early postnatal mouse development","volume":"48","author":"Gehrig","year":"2007","journal-title":"Invest. Ophthalmol. Vis. Sci."},{"key":"10.1016\/j.exer.2018.07.021_bib19","doi-asserted-by":"crossref","first-page":"653","DOI":"10.1136\/bjo.79.7.653","article-title":"Infantile presentation of X linked retinoschisis","volume":"79","author":"George","year":"1995","journal-title":"Br. J. Ophthalmol."},{"key":"10.1016\/j.exer.2018.07.021_bib20","doi-asserted-by":"crossref","first-page":"6555","DOI":"10.1038\/s41598-017-06848-y","article-title":"A single amino acid substitution confers B-cell clonogenic activity to the HIV-1 matrix protein p17","volume":"7","author":"Giagulli","year":"2017","journal-title":"Sci. Rep."},{"key":"10.1016\/j.exer.2018.07.021_bib21","series-title":"Modern Genetic Analysis","author":"Griffiths","year":"1999"},{"key":"10.1016\/j.exer.2018.07.021_bib22","doi-asserted-by":"crossref","first-page":"e643","DOI":"10.1371\/journal.pone.0000643","article-title":"The cis-regulatory logic of the mammalian photoreceptor transcriptional network","volume":"2","author":"Hsiau","year":"2007","journal-title":"PLoS One"},{"key":"10.1016\/j.exer.2018.07.021_bib23","doi-asserted-by":"crossref","first-page":"4872","DOI":"10.1073\/pnas.061632798","article-title":"Structure and function in rhodopsin: mass spectrometric identification of the abnormal intradiscal disulfide bond in misfolded retinitis pigmentosa mutants","volume":"98","author":"Hwa","year":"2001","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"10.1016\/j.exer.2018.07.021_bib24","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/S0167-4838(99)00038-2","article-title":"Multiple folding pathways for heterologously expressed human prion protein","volume":"1431","author":"Jackson","year":"1999","journal-title":"Biochim. Biophys. Acta"},{"key":"10.1016\/j.exer.2018.07.021_bib25","doi-asserted-by":"crossref","first-page":"3931","DOI":"10.1016\/S0042-6989(01)00188-2","article-title":"Analysis of photoreceptor function and inner retinal activity in juvenile X-linked retinoschisis","volume":"41","author":"Khan","year":"2001","journal-title":"Vis. Res."},{"key":"10.1016\/j.exer.2018.07.021_bib26","doi-asserted-by":"crossref","first-page":"1069","DOI":"10.1016\/j.bbapap.2007.07.007","article-title":"Structural similarities and functional diversity of eukaryotic discoidin-like domains","volume":"1774","author":"Kiedzierska","year":"2007","journal-title":"Biochim. Biophys. Acta"},{"key":"10.1016\/j.exer.2018.07.021_bib27","doi-asserted-by":"crossref","first-page":"2238","DOI":"10.1523\/JNEUROSCI.20-06-02238.2000","article-title":"Neural cell adhesion molecule-stimulated neurite outgrowth depends on activation of protein kinase C and the Ras-mitogen-activated protein kinase pathway","volume":"20","author":"Kolkova","year":"2000","journal-title":"J. Neurosci."},{"key":"10.1016\/j.exer.2018.07.021_bib28","first-page":"816","article-title":"Expression of X-linked retinoschisis protein RS1 in photoreceptor and bipolar cells","volume":"42","author":"Molday","year":"2001","journal-title":"Invest. Ophthalmol. Vis. Sci."},{"key":"10.1016\/j.exer.2018.07.021_bib29","doi-asserted-by":"crossref","first-page":"32792","DOI":"10.1074\/jbc.M706321200","article-title":"Retinoschisin (RS1), the protein encoded by the X-linked retinoschisis gene, is anchored to the surface of retinal photoreceptor and bipolar cells through its interactions with a Na\/K ATPase-SARM1 complex","volume":"282","author":"Molday","year":"2007","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.exer.2018.07.021_bib30","doi-asserted-by":"crossref","first-page":"195","DOI":"10.1016\/j.preteyeres.2011.12.002","article-title":"X-linked juvenile retinoschisis: clinical diagnosis, genetic analysis, and molecular mechanisms","volume":"31","author":"Molday","year":"2012","journal-title":"Prog. Retin. Eye Res."},{"key":"10.1016\/j.exer.2018.07.021_bib31","doi-asserted-by":"crossref","first-page":"2178","DOI":"10.1091\/mbc.e17-01-0064","article-title":"Retinoschisin is linked to retinal Na\/K-ATPase signaling and localization","volume":"28","author":"Pl\u00f6ssl","year":"2017","journal-title":"Mol. Biol. Cell"},{"key":"10.1016\/j.exer.2018.07.021_bib32","doi-asserted-by":"crossref","first-page":"768","DOI":"10.1111\/jcmm.13019","article-title":"The X-linked juvenile retinoschisis protein retinoschisin is a novel regulator of mitogen-activated protein kinase signalling and apoptosis in the retina","volume":"21","author":"Pl\u00f6ssl","year":"2017","journal-title":"J. Cell Mol. Med."},{"key":"10.1016\/j.exer.2018.07.021_bib33","first-page":"5311","article-title":"Structural analysis of X-linked retinoschisis mutations reveals distinct classes which differentially effect retinoschisin function","volume":"25","author":"Ramsay","year":"2016","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.exer.2018.07.021_bib34","doi-asserted-by":"crossref","first-page":"205","DOI":"10.1007\/s00018-012-1039-9","article-title":"Na(+), K (+)-ATPase as a docking station: protein-protein complexes of the Na(+), K (+)-ATPase","volume":"70","author":"Reinhard","year":"2013","journal-title":"Cell. Mol. Life Sci."},{"key":"10.1016\/j.exer.2018.07.021_bib35","doi-asserted-by":"crossref","first-page":"164","DOI":"10.1038\/ng1097-164","article-title":"Positional cloning of the gene associated with X-linked juvenile retinoschisis","volume":"17","author":"Sauer","year":"1997","journal-title":"Nat. Genet."},{"key":"10.1016\/j.exer.2018.07.021_bib36","doi-asserted-by":"crossref","first-page":"39","DOI":"10.1186\/1758-2946-5-39","article-title":"MOLE 2.0: advanced approach for analysis of biomacromolecular channels","volume":"5","author":"Sehnal","year":"2013","journal-title":"J. Cheminf."},{"key":"10.1016\/j.exer.2018.07.021_bib37","doi-asserted-by":"crossref","first-page":"3966","DOI":"10.1074\/jbc.M806333200","article-title":"Retinoschisin, a new binding partner for L-type voltage gated calcium channels in the retina","volume":"284","author":"Shi","year":"2009","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.exer.2018.07.021_bib38","doi-asserted-by":"crossref","first-page":"232","DOI":"10.3389\/fncel.2017.00232","article-title":"Retinoschisin facilitates the function of L-type voltage-gated calcium channels","volume":"11","author":"Shi","year":"2017","journal-title":"Front. Cell. Neurosci."},{"key":"10.1016\/j.exer.2018.07.021_bib39","doi-asserted-by":"crossref","first-page":"225","DOI":"10.1136\/jmg.2006.047340","article-title":"X-linked retinoschisis: an update","volume":"44","author":"Sikkink","year":"2007","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.exer.2018.07.021_bib40","first-page":"892","article-title":"Retinoschisin forms a multi-molecular complex with extracellular matrix and cytoplasmic proteins: interactions with \u03b22 laminin and \u03b1B-crystallin","volume":"12","author":"Steiner-Champliaud","year":"2006","journal-title":"Mol. Vis."},{"key":"10.1016\/j.exer.2018.07.021_bib41","doi-asserted-by":"crossref","first-page":"39020","DOI":"10.1074\/jbc.M303625200","article-title":"Retinitis pigmentosa rhodopsin mutations L125R and A164V perturb critical interhelical interactions: new insights through compensatory mutations and crystal structure analysis","volume":"278","author":"Stojanovic","year":"2003","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.exer.2018.07.021_bib42","first-page":"1108","article-title":"Retinoschisin expression and localization in rodent and human pineal and consequences of mouse RS1 gene knockout","volume":"12","author":"Takada","year":"2006","journal-title":"Mol. Vis."},{"key":"10.1016\/j.exer.2018.07.021_bib43","doi-asserted-by":"crossref","first-page":"5287","DOI":"10.1073\/pnas.1519048113","article-title":"Paired octamer rings of retinoschisin suggest a junctional model for cell-cell adhesion in the retina","volume":"113","author":"Tolun","year":"2016","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"10.1016\/j.exer.2018.07.021_bib44","doi-asserted-by":"crossref","first-page":"614","DOI":"10.2174\/138920309789630534","article-title":"The role of thiols and disulfides on protein stability","volume":"10","author":"Trivedi","year":"2009","journal-title":"Curr. Protein Pept. Sci."},{"key":"10.1016\/j.exer.2018.07.021_bib45","doi-asserted-by":"crossref","first-page":"991","DOI":"10.1167\/iovs.06-0915","article-title":"Retinoschisin is a peripheral membrane protein with affinity for anionic phospholipids and affected by divalent cations","volume":"48","author":"Vijayasarathy","year":"2007","journal-title":"Invest. Ophthalmol. Vis. Sci."},{"key":"10.1016\/j.exer.2018.07.021_bib46","doi-asserted-by":"crossref","first-page":"3097","DOI":"10.1093\/hmg\/11.24.3097","article-title":"Intracellular retention of mutant retinoschisin is the pathological mechanism underlying X-linked retinoschisis","volume":"11","author":"Wang","year":"2002","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.exer.2018.07.021_bib47","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1136\/bjo.2005.078048","article-title":"Molecular pathology of X linked retinoschisis: mutations interfere with retinoschisin secretion and oligomerisation","volume":"90","author":"Wang","year":"2006","journal-title":"Br. J. Ophthalmol."},{"key":"10.1016\/j.exer.2018.07.021_bib48","doi-asserted-by":"crossref","first-page":"6222","DOI":"10.1073\/pnas.092528599","article-title":"Inactivation of the murine X-linked juvenile retinoschisis gene, Rs1h, suggests a role of retinoschisin in retinal cell layer organization and synaptic structure","volume":"99","author":"Weber","year":"2002","journal-title":"Proc. Natl. Acad. Sci. U.S.A."},{"key":"10.1016\/j.exer.2018.07.021_bib49","doi-asserted-by":"crossref","first-page":"937","DOI":"10.1080\/07391102.2012.10507420","article-title":"In silico investigation of the disease-associated retinoschisin C110Y and C219G mutants","volume":"29","author":"Wu","year":"2012","journal-title":"J. Biomol. Struct. Dyn."},{"key":"10.1016\/j.exer.2018.07.021_bib50","doi-asserted-by":"crossref","first-page":"28139","DOI":"10.1074\/jbc.M302464200","article-title":"Defective discoidin domain structure, subunit assembly, and endoplasmic reticulum processing of retinoschisin are primary mechanisms responsible for X-linked retinoschisis","volume":"278","author":"Wu","year":"2003","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.exer.2018.07.021_bib51","doi-asserted-by":"crossref","first-page":"10721","DOI":"10.1074\/jbc.M413117200","article-title":"RS1, a discoidin domain-containing retinal cell adhesion protein associated with X-linked retinoschisis, exists as a novel disulfide-linked octamer","volume":"280","author":"Wu","year":"2005","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.exer.2018.07.021_bib52","doi-asserted-by":"crossref","first-page":"144","DOI":"10.7150\/ijbs.13382","article-title":"Nucleophosmin mutants promote adhesion, migration and invasion of human Leukemia THP-1 cells through MMPs up-regulation via Ras\/ERK MAPK signaling","volume":"12","author":"Xian","year":"2016","journal-title":"Int. J. Biol. Sci."}],"container-title":["Experimental Eye Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0014483518301672?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0014483518301672?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2018,11,24]],"date-time":"2018-11-24T13:24:58Z","timestamp":1543065898000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0014483518301672"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,12]]},"references-count":52,"alternative-id":["S0014483518301672"],"URL":"https:\/\/doi.org\/10.1016\/j.exer.2018.07.021","relation":{},"ISSN":["0014-4835"],"issn-type":[{"value":"0014-4835","type":"print"}],"subject":[],"published":{"date-parts":[[2018,12]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Pathomechanism of mutated and secreted retinoschisin in X-linked juvenile retinoschisis","name":"articletitle","label":"Article Title"},{"value":"Experimental Eye Research","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.exer.2018.07.021","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2018 Elsevier Ltd. All rights reserved.","name":"copyright","label":"Copyright"}]}}