{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,28]],"date-time":"2025-10-28T14:39:59Z","timestamp":1761662399291},"reference-count":22,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2006,7,31]],"date-time":"2006-07-31T00:00:00Z","timestamp":1154304000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Neuroscience Research"],"published-print":{"date-parts":[[2006,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Mutations in the human protein palmitoyl thioesterase\u20101 (<jats:italic>PPT\u20101<\/jats:italic>) gene result in an autosomal recessive neurodegenerative disorder designated neuronal ceroid lipofuscinosis (NCL), type CLN1, or infantile NCL. Among the symptoms of the CLN1 disease are accumulation of autofluorescent lysosomal storage bodies in neurons and other cell types, seizures, motor and cognitive decline, blindness, and premature death. Development of an effective therapy for this disorder will be greatly assisted by the availability of suitable animal models. A mouse <jats:italic>PPT\u20101<\/jats:italic> gene knockout model has recently been generated. Studies were performed to determine whether the mouse model exhibits ocular features of the human CLN1 disorder. A progressive accumulation of autofluorescent storage material in all layers of the retina was observed in the <jats:italic>PPT\u20101<\/jats:italic> knockout mice. Accompanying the storage body accumulation was a modest loss of cells with nuclei in the outer and inner nuclear layers. As indicated by electroretinogram (ERG) responses, retinal function was only mildly impaired at 4 months of age but was severely impaired by 8 months, despite only modest changes in retinal morphology. The pupillary light reflex (PLR), on the other hand, was exaggerated in the knockout mice. The apparent anomaly between the ERG and the PLR findings suggests that disease\u2010related PLR changes may be due to changes in extraocular signal processing. The pronounced ocular phenotype in the <jats:italic>PPT\u20101<\/jats:italic> knockout mice makes these animals a good model for testing therapeutic interventions for treatment of the human CLN1 disorder. \u00a9 2006 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/jnr.21008","type":"journal-article","created":{"date-parts":[[2006,8,1]],"date-time":"2006-08-01T22:51:44Z","timestamp":1154472704000},"page":"1139-1149","source":"Crossref","is-referenced-by-count":16,"title":["Ocular phenotype in a mouse gene knockout model for infantile neuronal ceroid lipofuscinosis"],"prefix":"10.1002","volume":"84","author":[{"given":"Bo","family":"Lei","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gregory E.","family":"Tullis","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mark D.","family":"Kirk","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Keqing","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Martin L.","family":"Katz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2006,7,31]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1167\/iovs.03-1230"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/433698a"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuroscience.2005.08.084"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nbd.2004.03.005"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymthe.2005.04.018"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.251485198"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2990.1995.tb01028.x"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0925-4439(97)00017-3"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.2460\/ajvr.2005.66.67"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.mad.2004.11.004"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1167\/iovs.05-1461"},{"key":"e_1_2_6_13_1","unstructured":"LuW TanJ LeiB.2003.Automated size measurement for pupillary light reflex analysis of miceBiomedical Engineering Society Annual Meeting vol 8.2.1 Nashville TN."},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1077293"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(99)00173-7"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1086179"},{"key":"e_1_2_6_17_1","first-page":"2148","article-title":"Extreme responsiveness of the pupil of the dark\u2010adapted mouse to steady retinal illumination","volume":"39","author":"Pennesi ME","year":"1998","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1136\/bjo.67.7.443"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1038\/376584a0"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2004.06.019"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.0022-2720.2004.01310.x"},{"key":"e_1_2_6_22_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbr.2005.02.024"},{"key":"e_1_2_6_23_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0065-2660(01)45002-4"}],"container-title":["Journal of Neuroscience Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fjnr.21008","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jnr.21008","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,12]],"date-time":"2023-10-12T18:07:24Z","timestamp":1697134044000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/jnr.21008"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2006,7,31]]},"references-count":22,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2006,10]]}},"alternative-id":["10.1002\/jnr.21008"],"URL":"https:\/\/doi.org\/10.1002\/jnr.21008","archive":["Portico"],"relation":{},"ISSN":["0360-4012","1097-4547"],"issn-type":[{"value":"0360-4012","type":"print"},{"value":"1097-4547","type":"electronic"}],"subject":[],"published":{"date-parts":[[2006,7,31]]}}}