{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,26]],"date-time":"2026-08-26T14:04:10Z","timestamp":1787753050097,"version":"build-2784847793"},"reference-count":24,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2023,6,1]],"date-time":"2023-06-01T00:00:00Z","timestamp":1685577600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2023,6,1]],"date-time":"2023-06-01T00:00:00Z","timestamp":1685577600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2023,4,13]],"date-time":"2023-04-13T00:00:00Z","timestamp":1681344000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/100000053","name":"National Eye Institute","doi-asserted-by":"publisher","award":["EY012910"],"award-info":[{"award-number":["EY012910"]}],"id":[{"id":"10.13039\/100000053","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000053","name":"National Eye Institute","doi-asserted-by":"publisher","award":["P30EY003790"],"award-info":[{"award-number":["P30EY003790"]}],"id":[{"id":"10.13039\/100000053","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["cell.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Molecular Therapy - Methods &amp; Clinical Development"],"published-print":{"date-parts":[[2023,6]]},"DOI":"10.1016\/j.omtm.2023.04.003","type":"journal-article","created":{"date-parts":[[2023,4,18]],"date-time":"2023-04-18T12:27:43Z","timestamp":1681820863000},"page":"319-328","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":6,"special_numbering":"C","title":["Expression of NMNAT1 in the photoreceptors is sufficient to prevent NMNAT1-associated retinal degeneration"],"prefix":"10.1016","volume":"29","author":[{"given":"Emily E.","family":"Brown","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael J.","family":"Scandura","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2354-4102","authenticated-orcid":false,"given":"Eric A.","family":"Pierce","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.omtm.2023.04.003_bib1","doi-asserted-by":"crossref","first-page":"1040","DOI":"10.1038\/ng.2361","article-title":"NMNAT1 mutations cause Leber congenital amaurosis","volume":"44","author":"Falk","year":"2012","journal-title":"Nat. Genet."},{"key":"10.1016\/j.omtm.2023.04.003_bib2","doi-asserted-by":"crossref","first-page":"2262","DOI":"10.3390\/ijms22052262","article-title":"New insights on the genetic basis underlying SHILCA syndrome: characterization of the NMNAT1 pathological alterations due to compound heterozygous mutations and identification of a novel alternative isoform","volume":"22","author":"Abad-Morales","year":"2021","journal-title":"Int. J. Mol. Sci."},{"key":"10.1016\/j.omtm.2023.04.003_bib3","doi-asserted-by":"crossref","first-page":"972","DOI":"10.1038\/ng.2370","article-title":"Exome sequencing identifies NMNAT1 mutations as a cause of Leber congenital amaurosis","volume":"44","author":"Chiang","year":"2012","journal-title":"Nat. Genet."},{"key":"10.1016\/j.omtm.2023.04.003_bib4","doi-asserted-by":"crossref","first-page":"1035","DOI":"10.1038\/ng.2356","article-title":"Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration","volume":"44","author":"Koenekoop","year":"2012","journal-title":"Nat. Genet."},{"key":"10.1016\/j.omtm.2023.04.003_bib5","doi-asserted-by":"crossref","first-page":"975","DOI":"10.1038\/ng.2357","article-title":"Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy","volume":"44","author":"Perrault","year":"2012","journal-title":"Nat. Genet."},{"key":"10.1016\/j.omtm.2023.04.003_bib6","doi-asserted-by":"crossref","first-page":"2250","DOI":"10.1093\/hmg\/ddaa112","article-title":"An Alu-mediated duplication in NMNAT1, involved in NAD biosynthesis, causes a novel syndrome, SHILCA, affecting multiple tissues and organs","volume":"29","author":"Bedoni","year":"2020","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.omtm.2023.04.003_bib7","doi-asserted-by":"crossref","first-page":"112958","DOI":"10.1016\/j.expneurol.2019.112958","article-title":"Homozygous NMNAT2 mutation in sisters with polyneuropathy and erythromelalgia","volume":"320","author":"Huppke","year":"2019","journal-title":"Exp. Neurol."},{"key":"10.1016\/j.omtm.2023.04.003_bib8","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1086\/518720","article-title":"A genomewide screen for late-onset Alzheimer disease in a genetically isolated Dutch population","volume":"81","author":"Liu","year":"2007","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.omtm.2023.04.003_bib9","doi-asserted-by":"crossref","first-page":"1925","DOI":"10.1016\/j.ajpath.2016.03.013","article-title":"Mouse models of NMNAT1-leber congenital amaurosis (LCA9) recapitulate key features of the human disease","volume":"186","author":"Greenwald","year":"2016","journal-title":"Am. J. Pathol."},{"key":"10.1016\/j.omtm.2023.04.003_bib10","doi-asserted-by":"crossref","first-page":"2666","DOI":"10.1111\/j.1742-4658.2011.08193.x","article-title":"Reducing expression of NAD+ synthesizing enzyme NMNAT1 does not affect the rate of Wallerian degeneration","volume":"278","author":"Conforti","year":"2011","journal-title":"FEBS J."},{"key":"10.1016\/j.omtm.2023.04.003_bib11","doi-asserted-by":"crossref","first-page":"e62027","DOI":"10.7554\/eLife.62027","article-title":"SARM1 depletion rescues NMNAT1-dependent photoreceptor cell death and retinal degeneration","volume":"9","author":"Sasaki","year":"2020","journal-title":"Elife"},{"key":"10.1016\/j.omtm.2023.04.003_bib12","doi-asserted-by":"crossref","first-page":"644","DOI":"10.1093\/hmg\/ddab070","article-title":"Mutant NMNAT1 leads to a retina-specific decrease of NAD+ accompanied by increased poly(ADP-ribose) in a mouse model of NMNAT1-associated retinal degeneration","volume":"30","author":"Greenwald","year":"2021","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.omtm.2023.04.003_bib13","doi-asserted-by":"crossref","first-page":"1370","DOI":"10.1093\/hmg\/ddab324","article-title":"Reduced nuclear NAD+ drives DNA damage and subsequent immune activation in the retina","volume":"31","author":"Brown","year":"2022","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.omtm.2023.04.003_bib14","doi-asserted-by":"crossref","first-page":"1067","DOI":"10.1016\/j.cmet.2018.03.018","article-title":"Quantitative analysis of NAD synthesis-breakdown fluxes","volume":"27","author":"Liu","year":"2018","journal-title":"Cell Metabol."},{"key":"10.1016\/j.omtm.2023.04.003_bib15","doi-asserted-by":"crossref","first-page":"582","DOI":"10.1016\/j.omtm.2020.07.003","article-title":"Gene therapy preserves retinal structure and function in a mouse model of NMNAT1-associated retinal degeneration","volume":"18","author":"Greenwald","year":"2020","journal-title":"Mol. Ther. Methods Clin. Dev."},{"key":"10.1016\/j.omtm.2023.04.003_bib16","doi-asserted-by":"crossref","first-page":"1345","DOI":"10.1038\/s41593-019-0431-2","article-title":"Targeting neuronal and glial cell types with synthetic promoter AAVs in mice, non-human primates and humans","volume":"22","author":"J\u00fcttner","year":"2019","journal-title":"Nat. Neurosci."},{"key":"10.1016\/j.omtm.2023.04.003_bib17","doi-asserted-by":"crossref","first-page":"2112","DOI":"10.1038\/sj.gt.3302134","article-title":"Adeno-associated virus terminal repeat (TR) mutant generates self-complementary vectors to overcome the rate-limiting step to transduction in\u00a0vivo","volume":"10","author":"McCarty","year":"2003","journal-title":"Gene Ther."},{"key":"10.1016\/j.omtm.2023.04.003_bib18","doi-asserted-by":"crossref","first-page":"1162","DOI":"10.1038\/gt.2010.56","article-title":"rAAV2\/5 gene-targeting to rods:dose-dependent efficiency and complications associated with different promoters","volume":"17","author":"Beltran","year":"2010","journal-title":"Gene Ther."},{"key":"10.1016\/j.omtm.2023.04.003_bib19","doi-asserted-by":"crossref","first-page":"e71185","DOI":"10.7554\/eLife.71185","article-title":"Nuclear NAD(+)-biosynthetic enzyme NMNAT1 facilitates development and early survival of retinal neurons","volume":"10","author":"Sokolov","year":"2021","journal-title":"Elife"},{"key":"10.1016\/j.omtm.2023.04.003_bib20","doi-asserted-by":"crossref","first-page":"19599","DOI":"10.1073\/pnas.2001776117","article-title":"Elevated energy requirement of cone photoreceptors","volume":"117","author":"Ingram","year":"2020","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"10.1016\/j.omtm.2023.04.003_bib21","doi-asserted-by":"crossref","first-page":"755","DOI":"10.1038\/ng1386","article-title":"Identification and characterization of rod-derived cone viability factor","volume":"36","author":"L\u00e9veillard","year":"2004","journal-title":"Nat. Genet."},{"key":"10.1016\/j.omtm.2023.04.003_bib22","doi-asserted-by":"crossref","first-page":"1056","DOI":"10.1016\/j.celrep.2015.07.019","article-title":"In silico reconstruction of the viral evolutionary lineage yields a potent gene therapy vector","volume":"12","author":"Zinn","year":"2015","journal-title":"Cell Rep."},{"key":"10.1016\/j.omtm.2023.04.003_bib23","first-page":"175","article-title":"Susceptibility of rats to corneal lesions after injectable anesthesia","volume":"55","author":"Turner","year":"2005","journal-title":"Comp. Med."},{"key":"10.1016\/j.omtm.2023.04.003_bib24","doi-asserted-by":"crossref","first-page":"e0132804","DOI":"10.1371\/journal.pone.0132804","article-title":"Ketamine\/xylazine-induced corneal damage in mice","volume":"10","author":"Koehn","year":"2015","journal-title":"PLoS One"}],"container-title":["Molecular Therapy - Methods &amp; Clinical Development"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2329050123000566?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2329050123000566?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2026,5,15]],"date-time":"2026-05-15T17:54:47Z","timestamp":1778867687000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S2329050123000566"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,6]]},"references-count":24,"alternative-id":["S2329050123000566"],"URL":"https:\/\/doi.org\/10.1016\/j.omtm.2023.04.003","relation":{},"ISSN":["2329-0501"],"issn-type":[{"value":"2329-0501","type":"print"}],"subject":[],"published":{"date-parts":[[2023,6]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Expression of NMNAT1 in the photoreceptors is sufficient to prevent NMNAT1-associated retinal degeneration","name":"articletitle","label":"Article Title"},{"value":"Molecular Therapy - Methods & Clinical Development","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.omtm.2023.04.003","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2023 The Authors.","name":"copyright","label":"Copyright"}]}}