{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T16:03:34Z","timestamp":1791216214305,"version":"4.1.0"},"reference-count":80,"publisher":"Elsevier BV","issue":"7","license":[{"start":{"date-parts":[[2016,7,1]],"date-time":"2016-07-01T00:00:00Z","timestamp":1467331200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2019,12,13]],"date-time":"2019-12-13T00:00:00Z","timestamp":1576195200000},"content-version":"vor","delay-in-days":1260,"URL":"http:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"funder":[{"DOI":"10.13039\/100000053","name":"NIH\/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":"NIH\/National Eye Institute","doi-asserted-by":"publisher","award":["5T32 EY-007145-16"],"award-info":[{"award-number":["5T32 EY-007145-16"]}],"id":[{"id":"10.13039\/100000053","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000053","name":"NIH\/National Eye Institute","doi-asserted-by":"publisher","award":["EY016501"],"award-info":[{"award-number":["EY016501"]}],"id":[{"id":"10.13039\/100000053","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000053","name":"NIH\/National Eye Institute","doi-asserted-by":"publisher","award":["P30 EY003790"],"award-info":[{"award-number":["P30 EY003790"]}],"id":[{"id":"10.13039\/100000053","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000053","name":"NIH\/National Eye Institute","doi-asserted-by":"publisher","award":["P30 EY014104"],"award-info":[{"award-number":["P30 EY014104"]}],"id":[{"id":"10.13039\/100000053","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Foundation for Retinal Research"},{"name":"Gavin R. Stevens Foundation"},{"DOI":"10.13039\/100002089","name":"Fight for Sight","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100002089","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["clinicalkey.jp","journals.elsevierhealth.com","clinicalkey.com","clinicalkey.es","clinicalkey.com.au","clinicalkey.fr","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["The American Journal of Pathology"],"published-print":{"date-parts":[[2016,7]]},"DOI":"10.1016\/j.ajpath.2016.03.013","type":"journal-article","created":{"date-parts":[[2016,5,18]],"date-time":"2016-05-18T05:34:16Z","timestamp":1463549656000},"page":"1925-1938","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":46,"title":["Mouse Models of NMNAT1-Leber Congenital Amaurosis (LCA9) Recapitulate Key Features of the Human Disease"],"prefix":"10.1016","volume":"186","author":[{"given":"Scott H.","family":"Greenwald","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeremy R.","family":"Charette","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Magdalena","family":"Staniszewska","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lan Ying","family":"Shi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Steve D.M.","family":"Brown","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lisa","family":"Stone","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qin","family":"Liu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wanda L.","family":"Hicks","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gayle B.","family":"Collin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael R.","family":"Bowl","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mark P.","family":"Krebs","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patsy M.","family":"Nishina","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eric A.","family":"Pierce","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ajpath.2016.03.013_bib1","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.ajpath.2016.03.013_bib2","doi-asserted-by":"crossref","first-page":"391","DOI":"10.1016\/j.preteyeres.2008.05.003","article-title":"Leber congenital amaurosis: genes, proteins and disease mechanisms","volume":"27","author":"den Hollander","year":"2008","journal-title":"Prog Retin Eye Res"},{"key":"10.1016\/j.ajpath.2016.03.013_bib3","doi-asserted-by":"crossref","first-page":"379","DOI":"10.1016\/j.survophthal.2004.04.003","article-title":"An overview of Leber congenital amaurosis: a model to understand human retinal development","volume":"49","author":"Koenekoop","year":"2004","journal-title":"Surv Ophthalmol"},{"key":"10.1016\/j.ajpath.2016.03.013_bib4","doi-asserted-by":"crossref","first-page":"3042","DOI":"10.1172\/JCI42258","article-title":"Lighting a candle in the dark: advances in genetics and gene therapy of recessive retinal dystrophies","volume":"120","author":"den Hollander","year":"2010","journal-title":"J Clin Invest"},{"key":"10.1016\/j.ajpath.2016.03.013_bib5","doi-asserted-by":"crossref","first-page":"137","DOI":"10.1111\/j.1444-0938.2010.00479.x","article-title":"Intrinsically photosensitive melanopsin retinal ganglion cell contributions to the pupillary light reflex and circadian rhythm","volume":"93","author":"Markwell","year":"2010","journal-title":"Clin Exp Optom"},{"key":"10.1016\/j.ajpath.2016.03.013_bib6","doi-asserted-by":"crossref","first-page":"14242","DOI":"10.1523\/JNEUROSCI.1321-12.2012","article-title":"Melanopsin and rod-cone photoreceptors play different roles in mediating pupillary light responses during exposure to continuous light in humans","volume":"32","author":"Gooley","year":"2012","journal-title":"J Neurosci"},{"key":"10.1016\/j.ajpath.2016.03.013_bib7","series-title":"Leber Congenital Amaurosis (GeneReviews)","author":"Weleber","year":"2013"},{"key":"10.1016\/j.ajpath.2016.03.013_bib8","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.ajpath.2016.03.013_bib9","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.ajpath.2016.03.013_bib10","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.ajpath.2016.03.013_bib11","doi-asserted-by":"crossref","first-page":"104","DOI":"10.1016\/j.gene.2015.05.038","article-title":"A novel missense NMNAT1 mutation identified in a consanguineous family with Leber congenital amaurosis by targeted next generation sequencing","volume":"569","author":"Deng","year":"2015","journal-title":"Gene"},{"key":"10.1016\/j.ajpath.2016.03.013_bib12","first-page":"553","article-title":"Detecting genetic variations in hereditary retinal dystrophies with next-generation sequencing technology","volume":"20","author":"Jin","year":"2014","journal-title":"Mol Vis"},{"key":"10.1016\/j.ajpath.2016.03.013_bib13","doi-asserted-by":"crossref","first-page":"e65574","DOI":"10.1371\/journal.pone.0065574","article-title":"Exome sequencing of index patients with retinal dystrophies as a tool for molecular diagnosis","volume":"8","author":"Corton","year":"2013","journal-title":"PLoS One"},{"key":"10.1016\/j.ajpath.2016.03.013_bib14","first-page":"753","article-title":"Novel compound heterozygous NMNAT1 variants associated with Leber congenital amaurosis","volume":"20","author":"Siemiatkowska","year":"2014","journal-title":"Mol Vis"},{"key":"10.1016\/j.ajpath.2016.03.013_bib15","doi-asserted-by":"crossref","first-page":"671","DOI":"10.1038\/gim.2014.24","article-title":"Identity-by-descent-guided mutation analysis and exome sequencing in consanguineous families reveals unusual clinical and molecular findings in retinal dystrophy","volume":"16","author":"Coppieters","year":"2014","journal-title":"Genet Med"},{"key":"10.1016\/j.ajpath.2016.03.013_bib16","doi-asserted-by":"crossref","first-page":"12","DOI":"10.1016\/j.tibs.2006.11.006","article-title":"NAD+ metabolism in health and disease","volume":"32","author":"Belenky","year":"2007","journal-title":"Trends Biochem Sci"},{"key":"10.1016\/j.ajpath.2016.03.013_bib17","doi-asserted-by":"crossref","first-page":"410","DOI":"10.2741\/3252","article-title":"The NMN\/NaMN adenylyltransferase (NMNAT) protein family","volume":"14","author":"Lau","year":"2009","journal-title":"Front Biosci (Landmark Ed)"},{"key":"10.1016\/j.ajpath.2016.03.013_bib18","doi-asserted-by":"crossref","first-page":"741","DOI":"10.1038\/nrc3340","article-title":"The NAD metabolome\u2013a key determinant of cancer cell biology","volume":"12","author":"Chiarugi","year":"2012","journal-title":"Nat Rev Cancer"},{"key":"10.1016\/j.ajpath.2016.03.013_bib19","doi-asserted-by":"crossref","first-page":"36334","DOI":"10.1074\/jbc.M508660200","article-title":"Subcellular compartmentation and differential catalytic properties of the three human nicotinamide mononucleotide adenylyltransferase isoforms","volume":"280","author":"Berger","year":"2005","journal-title":"J Biol Chem"},{"key":"10.1016\/j.ajpath.2016.03.013_bib20","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.ajpath.2016.03.013_bib21","doi-asserted-by":"crossref","first-page":"e416","DOI":"10.1371\/journal.pbio.0040416","article-title":"Drosophila NMNAT maintains neural integrity independent of its NAD synthesis activity","volume":"4","author":"Zhai","year":"2006","journal-title":"PLoS Biol"},{"key":"10.1016\/j.ajpath.2016.03.013_bib22","doi-asserted-by":"crossref","first-page":"2805","DOI":"10.1007\/s00018-009-0047-x","article-title":"Nicotinamide\/nicotinic acid mononucleotide adenylyltransferase, new insights into an ancient enzyme","volume":"66","author":"Zhai","year":"2009","journal-title":"Cell Mol Life Sci"},{"key":"10.1016\/j.ajpath.2016.03.013_bib23","doi-asserted-by":"crossref","first-page":"887","DOI":"10.1038\/nature06721","article-title":"NAD synthase NMNAT acts as a chaperone to protect against neurodegeneration","volume":"452","author":"Zhai","year":"2008","journal-title":"Nature"},{"key":"10.1016\/j.ajpath.2016.03.013_bib24","doi-asserted-by":"crossref","first-page":"1199","DOI":"10.1038\/nn770","article-title":"Wallerian degeneration of injured axons and synapses is delayed by a Ube4b\/Nmnat chimeric gene","volume":"4","author":"Mack","year":"2001","journal-title":"Nat Neurosci"},{"key":"10.1016\/j.ajpath.2016.03.013_bib25","doi-asserted-by":"crossref","first-page":"271","DOI":"10.1111\/j.1460-9568.2004.03833.x","article-title":"A rat model of slow Wallerian degeneration (WldS) with improved preservation of neuromuscular synapses","volume":"21","author":"Adalbert","year":"2005","journal-title":"Eur J Neurosci"},{"key":"10.1016\/j.ajpath.2016.03.013_bib26","doi-asserted-by":"crossref","first-page":"627","DOI":"10.1111\/j.1469-7793.2001.00627.x","article-title":"Compartmental neurodegeneration and synaptic plasticity in the Wld(s) mutant mouse","volume":"534","author":"Gillingwater","year":"2001","journal-title":"J Physiol"},{"key":"10.1016\/j.ajpath.2016.03.013_bib27","doi-asserted-by":"crossref","first-page":"17228","DOI":"10.1074\/jbc.M115.637850","article-title":"Characterization of Leber's congenital amaurosis-associated NMNAT1 mutants","volume":"290","author":"Sasaki","year":"2015","journal-title":"J Biol Chem"},{"key":"10.1016\/j.ajpath.2016.03.013_bib28","doi-asserted-by":"crossref","first-page":"1002","DOI":"10.1001\/jamaophthalmol.2014.983","article-title":"Nonpenetrance of the most frequent autosomal recessive leber congenital amaurosis mutation in NMNAT1","volume":"132","author":"Siemiatkowska","year":"2014","journal-title":"JAMA Ophthalmol"},{"key":"10.1016\/j.ajpath.2016.03.013_bib29","doi-asserted-by":"crossref","first-page":"255","DOI":"10.1038\/ng847","article-title":"A gene-driven approach to the identification of ENU mutants in the mouse","volume":"30","author":"Coghill","year":"2002","journal-title":"Nat Genet"},{"key":"10.1016\/j.ajpath.2016.03.013_bib30","doi-asserted-by":"crossref","first-page":"391","DOI":"10.1007\/978-1-4614-0631-0_50","article-title":"Translational vision research models program","volume":"723","author":"Won","year":"2012","journal-title":"Adv Exp Med Biol"},{"key":"10.1016\/j.ajpath.2016.03.013_bib31","doi-asserted-by":"crossref","first-page":"e19357","DOI":"10.1371\/journal.pone.0019357","article-title":"An ENU-mutagenesis screen in the mouse: identification of novel developmental gene functions","volume":"6","author":"Wansleeben","year":"2011","journal-title":"PLoS One"},{"key":"10.1016\/j.ajpath.2016.03.013_bib32","doi-asserted-by":"crossref","first-page":"585","DOI":"10.1007\/s00335-004-2379-z","article-title":"A gene-driven ENU-based approach to generating an allelic series in any gene","volume":"15","author":"Quwailid","year":"2004","journal-title":"Mamm Genome"},{"key":"10.1016\/j.ajpath.2016.03.013_bib33","doi-asserted-by":"crossref","first-page":"987","DOI":"10.1007\/s003359901145","article-title":"Large numbers of mice established by in\u00a0vitro fertilization with cryopreserved spermatozoa: implications and applications for genetic resource banks, mutagenesis screens, and mouse backcrosses","volume":"10","author":"Thornton","year":"1999","journal-title":"Mamm Genome"},{"key":"10.1016\/j.ajpath.2016.03.013_bib34","doi-asserted-by":"crossref","first-page":"230","DOI":"10.1007\/s00335-005-0101-4","article-title":"Estimating the number of coding mutations in genotypic- and phenotypic-driven N-ethyl-N-nitrosourea (ENU) screens","volume":"17","author":"Keays","year":"2006","journal-title":"Mamm Genome"},{"key":"10.1016\/j.ajpath.2016.03.013_bib35","doi-asserted-by":"crossref","first-page":"164","DOI":"10.1093\/clinchem\/31.1.164","article-title":"Isolation of DNA from biological specimens without extraction with phenol","volume":"31","author":"Buffone","year":"1985","journal-title":"Clin Chem"},{"key":"10.1016\/j.ajpath.2016.03.013_bib36","article-title":"Galaxy: a web-based genome analysis tool for experimentalists","volume":"Chapter 19","author":"Blankenberg","year":"2010","journal-title":"Curr Protoc Mol Biol"},{"key":"10.1016\/j.ajpath.2016.03.013_bib37","doi-asserted-by":"crossref","first-page":"1451","DOI":"10.1101\/gr.4086505","article-title":"Galaxy: a platform for interactive large-scale genome analysis","volume":"15","author":"Giardine","year":"2005","journal-title":"Genome Res"},{"key":"10.1016\/j.ajpath.2016.03.013_bib38","doi-asserted-by":"crossref","first-page":"R86","DOI":"10.1186\/gb-2010-11-8-r86","article-title":"Galaxy: a comprehensive approach for supporting accessible, reproducible, and transparent computational research in the life sciences","volume":"11","author":"Goecks","year":"2010","journal-title":"Genome Biol"},{"key":"10.1016\/j.ajpath.2016.03.013_bib39","doi-asserted-by":"crossref","first-page":"1754","DOI":"10.1093\/bioinformatics\/btp324","article-title":"Fast and accurate short read alignment with Burrows-Wheeler transform","volume":"25","author":"Li","year":"2009","journal-title":"Bioinformatics"},{"key":"10.1016\/j.ajpath.2016.03.013_bib40","doi-asserted-by":"crossref","first-page":"2078","DOI":"10.1093\/bioinformatics\/btp352","article-title":"The Sequence Alignment\/Map format and SAMtools","volume":"25","author":"Li","year":"2009","journal-title":"Bioinformatics"},{"key":"10.1016\/j.ajpath.2016.03.013_bib41","doi-asserted-by":"crossref","first-page":"80","DOI":"10.4161\/fly.19695","article-title":"A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff: SNPs in the genome of Drosophila melanogaster strain w1118; iso-2; iso-3","volume":"6","author":"Cingolani","year":"2012","journal-title":"Fly (Austin)"},{"key":"10.1016\/j.ajpath.2016.03.013_bib42","doi-asserted-by":"crossref","first-page":"2921","DOI":"10.1167\/iovs.12-9662","article-title":"The Rd8 mutation of the Crb1 gene is present in vendor lines of C57BL\/6N mice and embryonic stem cells, and confounds ocular induced mutant phenotypes","volume":"53","author":"Mattapallil","year":"2012","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"10.1016\/j.ajpath.2016.03.013_bib43","doi-asserted-by":"crossref","first-page":"42","DOI":"10.1152\/jn.00489.2001","article-title":"Temporal properties of the mouse cone electroretinogram","volume":"87","author":"Krishna","year":"2002","journal-title":"J Neurophysiol"},{"key":"10.1016\/j.ajpath.2016.03.013_bib44","doi-asserted-by":"crossref","first-page":"297","DOI":"10.1017\/S0952523803203084","article-title":"Pharmacological analysis of the rat cone electroretinogram","volume":"20","author":"Xu","year":"2003","journal-title":"Vis Neurosci"},{"key":"10.1016\/j.ajpath.2016.03.013_bib45","doi-asserted-by":"crossref","first-page":"557","DOI":"10.1364\/JOSAA.13.000557","article-title":"Inner retinal contributions to the primate photopic fast flicker electroretinogram","volume":"13","author":"Bush","year":"1996","journal-title":"J Opt Soc Am A Opt Image Sci Vis"},{"key":"10.1016\/j.ajpath.2016.03.013_bib46","doi-asserted-by":"crossref","first-page":"3837","DOI":"10.1167\/iovs.07-0203","article-title":"Retinoschisin gene therapy and natural history in the Rs1h-KO mouse: long-term rescue from retinal degeneration","volume":"48","author":"Kjellstrom","year":"2007","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"10.1016\/j.ajpath.2016.03.013_bib47","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1016\/0304-3940(93)90547-X","article-title":"Properties of the mouse cone-mediated electroretinogram during light adaptation","volume":"162","author":"Peachey","year":"1993","journal-title":"Neurosci Lett"},{"key":"10.1016\/j.ajpath.2016.03.013_bib48","doi-asserted-by":"crossref","first-page":"899","DOI":"10.1113\/jphysiol.2002.019703","article-title":"The scotopic threshold response of the dark-adapted electroretinogram of the mouse","volume":"543","author":"Saszik","year":"2002","journal-title":"J Physiol"},{"key":"10.1016\/j.ajpath.2016.03.013_bib49","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1017\/S0952523813000515","article-title":"S-opsin knockout mice with the endogenous M-opsin gene replaced by an L-opsin variant","volume":"31","author":"Greenwald","year":"2014","journal-title":"Vis Neurosci"},{"key":"10.1016\/j.ajpath.2016.03.013_bib50","doi-asserted-by":"crossref","first-page":"160","DOI":"10.1016\/j.mcn.2005.07.009","article-title":"Ocular abnormalities in Large(myd) and Large(vls) mice, spontaneous models for muscle, eye, and brain diseases","volume":"30","author":"Lee","year":"2005","journal-title":"Mol Cell Neurosci"},{"key":"10.1016\/j.ajpath.2016.03.013_bib51","doi-asserted-by":"crossref","first-page":"676","DOI":"10.1038\/nmeth.2019","article-title":"Fiji: an open-source platform for biological-image analysis","volume":"9","author":"Schindelin","year":"2012","journal-title":"Nat Methods"},{"key":"10.1016\/j.ajpath.2016.03.013_bib52","doi-asserted-by":"crossref","first-page":"4329","DOI":"10.1093\/hmg\/ddp385","article-title":"RPGRIP1 is essential for normal rod photoreceptor outer segment elaboration and morphogenesis","volume":"18","author":"Won","year":"2009","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.ajpath.2016.03.013_bib53","doi-asserted-by":"crossref","first-page":"211","DOI":"10.1017\/S0952523803202108","article-title":"Structure-function analysis of rods and cones in juvenile, adult, and aged C57bl\/6 and Balb\/c mice","volume":"20","author":"Gresh","year":"2003","journal-title":"Vis Neurosci"},{"key":"10.1016\/j.ajpath.2016.03.013_bib54","doi-asserted-by":"crossref","first-page":"2037","DOI":"10.1016\/j.visres.2007.03.023","article-title":"Cone-based vision in the aging mouse","volume":"47","author":"Williams","year":"2007","journal-title":"Vision Res"},{"key":"10.1016\/j.ajpath.2016.03.013_bib55","doi-asserted-by":"crossref","first-page":"621","DOI":"10.1038\/88443","article-title":"Characterization of an ocular photopigment capable of driving pupillary constriction in mice","volume":"4","author":"Lucas","year":"2001","journal-title":"Nat Neurosci"},{"key":"10.1016\/j.ajpath.2016.03.013_bib56","doi-asserted-by":"crossref","first-page":"245","DOI":"10.1126\/science.1077293","article-title":"Diminished pupillary light reflex at high irradiances in melanopsin-knockout mice","volume":"299","author":"Lucas","year":"2003","journal-title":"Science"},{"key":"10.1016\/j.ajpath.2016.03.013_bib57","doi-asserted-by":"crossref","first-page":"1268","DOI":"10.1167\/iovs.06-0925","article-title":"Melanopsin-dependent persistence and photopotentiation of murine pupillary light responses","volume":"48","author":"Zhu","year":"2007","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"10.1016\/j.ajpath.2016.03.013_bib58","doi-asserted-by":"crossref","first-page":"S158","DOI":"10.1139\/y92-257","article-title":"Energy requirements of CNS cells as related to their function and to their vulnerability to ischemia: a commentary based on studies on retina","volume":"70 Suppl","author":"Ames","year":"1992","journal-title":"Can J Physiol Pharmacol"},{"key":"10.1016\/j.ajpath.2016.03.013_bib59","doi-asserted-by":"crossref","first-page":"840","DOI":"10.1523\/JNEUROSCI.12-03-00840.1992","article-title":"Energy metabolism of rabbit retina as related to function: high cost of Na+ transport","volume":"12","author":"Ames","year":"1992","journal-title":"J Neurosci"},{"key":"10.1016\/j.ajpath.2016.03.013_bib60","doi-asserted-by":"crossref","first-page":"1792","DOI":"10.1242\/jeb.017574","article-title":"Energy limitation as a selective pressure on the evolution of sensory systems","volume":"211","author":"Niven","year":"2008","journal-title":"J Exp Biol"},{"key":"10.1016\/j.ajpath.2016.03.013_bib61","doi-asserted-by":"crossref","first-page":"99","DOI":"10.2147\/EB.S9078","article-title":"Energy metabolism of the visual system","volume":"2","author":"Wong-Riley","year":"2010","journal-title":"Eye Brain"},{"key":"10.1016\/j.ajpath.2016.03.013_bib62","doi-asserted-by":"crossref","first-page":"3765","DOI":"10.1073\/pnas.0609211104","article-title":"Regulation of poly(ADP-ribose) polymerase 1 activity by the phosphorylation state of the nuclear NAD biosynthetic enzyme NMN adenylyl transferase 1","volume":"104","author":"Berger","year":"2007","journal-title":"Proc Natl Acad Sci U S A"},{"key":"10.1016\/j.ajpath.2016.03.013_bib63","doi-asserted-by":"crossref","first-page":"446","DOI":"10.1016\/S0301-472X(03)00083-3","article-title":"PARP-1, a determinant of cell survival in response to DNA damage","volume":"31","author":"Bouchard","year":"2003","journal-title":"Exp Hematol"},{"key":"10.1016\/j.ajpath.2016.03.013_bib64","doi-asserted-by":"crossref","first-page":"18314","DOI":"10.1073\/pnas.0606528103","article-title":"Apoptosis-inducing factor mediates poly(ADP-ribose) (PAR) polymer-induced cell death","volume":"103","author":"Yu","year":"2006","journal-title":"Proc Natl Acad Sci U S A"},{"key":"10.1016\/j.ajpath.2016.03.013_bib65","doi-asserted-by":"crossref","first-page":"259","DOI":"10.1126\/science.1072221","article-title":"Mediation of poly(ADP-ribose) polymerase-1-dependent cell death by apoptosis-inducing factor","volume":"297","author":"Yu","year":"2002","journal-title":"Science"},{"key":"10.1016\/j.ajpath.2016.03.013_bib66","doi-asserted-by":"crossref","first-page":"1951","DOI":"10.1101\/gad.1331805","article-title":"Poly(ADP-ribosyl)ation by PARP-1: \u2018PAR-laying\u2019 NAD+ into a nuclear signal","volume":"19","author":"Kim","year":"2005","journal-title":"Genes Dev"},{"key":"10.1016\/j.ajpath.2016.03.013_bib67","doi-asserted-by":"crossref","first-page":"225","DOI":"10.1038\/nrm3293","article-title":"Sirtuins as regulators of metabolism and healthspan","volume":"13","author":"Houtkooper","year":"2012","journal-title":"Nat Rev Mol Cell Biol"},{"key":"10.1016\/j.ajpath.2016.03.013_bib68","doi-asserted-by":"crossref","first-page":"287","DOI":"10.1038\/nrendo.2011.225","article-title":"Sirtuins mediate mammalian metabolic responses to nutrient availability","volume":"8","author":"Chalkiadaki","year":"2012","journal-title":"Nat Rev Endocrinol"},{"key":"10.1016\/j.ajpath.2016.03.013_bib69","doi-asserted-by":"crossref","first-page":"543","DOI":"10.18632\/aging.100326","article-title":"Interference between PARPs and SIRT1: a novel approach to healthy ageing?","volume":"3","author":"Canto","year":"2011","journal-title":"Aging (Albany NY)"},{"key":"10.1016\/j.ajpath.2016.03.013_bib70","doi-asserted-by":"crossref","first-page":"2357","DOI":"10.1056\/NEJMoa1108046","article-title":"Adenovirus-associated virus vector-mediated gene transfer in hemophilia B","volume":"365","author":"Nathwani","year":"2011","journal-title":"N Engl J Med"},{"key":"10.1016\/j.ajpath.2016.03.013_bib71","doi-asserted-by":"crossref","first-page":"2240","DOI":"10.1056\/NEJMoa0802315","article-title":"Safety and efficacy of gene transfer for Leber's congenital amaurosis","volume":"358","author":"Maguire","year":"2008","journal-title":"N Engl J Med"},{"key":"10.1016\/j.ajpath.2016.03.013_bib72","doi-asserted-by":"crossref","first-page":"15112","DOI":"10.1073\/pnas.0807027105","article-title":"Human gene therapy for RPE65 isomerase deficiency activates the retinoid cycle of vision but with slow rod kinetics","volume":"105","author":"Cideciyan","year":"2008","journal-title":"Proc Natl Acad Sci U S A"},{"key":"10.1016\/j.ajpath.2016.03.013_bib73","doi-asserted-by":"crossref","first-page":"818","DOI":"10.1126\/science.1171242","article-title":"Hematopoietic stem cell gene therapy with a lentiviral vector in X-linked adrenoleukodystrophy","volume":"326","author":"Cartier","year":"2009","journal-title":"Science"},{"key":"10.1016\/j.ajpath.2016.03.013_bib74","doi-asserted-by":"crossref","first-page":"644","DOI":"10.1016\/j.ymthe.2005.06.002","article-title":"Prolonged recovery of retinal structure\/function after gene therapy in an Rs1h-deficient mouse model of x-linked juvenile retinoschisis","volume":"12","author":"Min","year":"2005","journal-title":"Mol Ther"},{"key":"10.1016\/j.ajpath.2016.03.013_bib75","doi-asserted-by":"crossref","first-page":"4278","DOI":"10.1167\/iovs.07-1622","article-title":"AAV-mediated gene therapy for retinal degeneration in the rd10 mouse containing a recessive PDEbeta mutation","volume":"49","author":"Pang","year":"2008","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"10.1016\/j.ajpath.2016.03.013_bib76","doi-asserted-by":"crossref","first-page":"685","DOI":"10.1038\/nm1596","article-title":"Restoration of cone vision in a mouse model of achromatopsia","volume":"13","author":"Alexander","year":"2007","journal-title":"Nat Med"},{"key":"10.1016\/j.ajpath.2016.03.013_bib77","doi-asserted-by":"crossref","first-page":"2084","DOI":"10.1093\/hmg\/ddn107","article-title":"Therapeutic benefit derived from RNAi-mediated ablation of IMPDH1 transcripts in a murine model of autosomal dominant retinitis pigmentosa (RP10)","volume":"17","author":"Tam","year":"2008","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.ajpath.2016.03.013_bib78","doi-asserted-by":"crossref","first-page":"6624","DOI":"10.1167\/iovs.11-7586","article-title":"Toward a clinical protocol for assessing rod, cone, and melanopsin contributions to the human pupil response","volume":"52","author":"Park","year":"2011","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"10.1016\/j.ajpath.2016.03.013_bib79","doi-asserted-by":"crossref","first-page":"92","DOI":"10.1038\/ng0501-92","article-title":"Gene therapy restores vision in a canine model of childhood blindness","volume":"28","author":"Acland","year":"2001","journal-title":"Nat Genet"},{"key":"10.1016\/j.ajpath.2016.03.013_bib80","doi-asserted-by":"crossref","first-page":"e230","DOI":"10.1371\/journal.pmed.0040230","article-title":"Canine and human visual cortex intact and responsive despite early retinal blindness from RPE65 mutation","volume":"4","author":"Aguirre","year":"2007","journal-title":"PLoS Med"}],"container-title":["The American Journal of Pathology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002944016300827?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002944016300827?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2020,9,19]],"date-time":"2020-09-19T23:21:17Z","timestamp":1600557677000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0002944016300827"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,7]]},"references-count":80,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2016,7]]}},"alternative-id":["S0002944016300827"],"URL":"https:\/\/doi.org\/10.1016\/j.ajpath.2016.03.013","relation":{},"ISSN":["0002-9440"],"issn-type":[{"value":"0002-9440","type":"print"}],"subject":[],"published":{"date-parts":[[2016,7]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Mouse Models of NMNAT1-Leber Congenital Amaurosis (LCA9) Recapitulate Key Features of the Human Disease","name":"articletitle","label":"Article Title"},{"value":"The American Journal of Pathology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ajpath.2016.03.013","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2016 American Society for Investigative Pathology. Published by Elsevier Inc.","name":"copyright","label":"Copyright"}]}}