{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T09:24:04Z","timestamp":1791365044008,"version":"4.3.1"},"reference-count":23,"publisher":"American Association for the Advancement of Science (AAAS)","issue":"5561","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Science"],"published-print":{"date-parts":[[2002,3,8]]},"abstract":"<jats:p>\n                    The classical recessive mouse mutant,\n                    <jats:italic>Purkinje cell degeneration<\/jats:italic>\n                    (\n                    <jats:italic>pcd<\/jats:italic>\n                    ), exhibits adult-onset degeneration of cerebellar Purkinje neurons, retinal photoreceptors, olfactory bulb mitral neurons, and selected thalamic neurons, and has defective spermatogenesis. Here we identify\n                    <jats:italic>Nna1<\/jats:italic>\n                    as the gene mutated in the original\n                    <jats:italic>pcd<\/jats:italic>\n                    and two additional\n                    <jats:italic>pcd<\/jats:italic>\n                    alleles (\n                    <jats:italic>pcd<\/jats:italic>\n                    <jats:sup>2J<\/jats:sup>\n                    and\n                    <jats:italic>pcd<\/jats:italic>\n                    <jats:sup>3J<\/jats:sup>\n                    ).\n                    <jats:italic>Nna1<\/jats:italic>\n                    encodes a putative nuclear protein containing a zinc carboxypeptidase domain initially identified by its induction in spinal motor neurons during axonal regeneration. The present study suggests an unexpected molecular link between neuronal degeneration and regeneration, and its results have potential implications for neurodegenerative diseases and male infertility.\n                  <\/jats:p>","DOI":"10.1126\/science.1068912","type":"journal-article","created":{"date-parts":[[2002,7,27]],"date-time":"2002-07-27T05:35:18Z","timestamp":1027748118000},"page":"1904-1906","source":"Crossref","is-referenced-by-count":234,"title":["<i>Purkinje cell degeneration<\/i>\n                    (\n                    <i>pcd<\/i>\n                    ) Phenotypes Caused by Mutations in the Axotomy-Induced Gene,\n                    <i>Nna1<\/i>"],"prefix":"10.1126","volume":"295","author":[{"given":"Angeles","family":"Fernandez-Gonzalez","sequence":"first","affiliation":[{"name":"Department of Developmental Neurobiology, St. Jude Children's Research Hospital, Memphis, TN 38105, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Albert R. La","family":"Spada","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine and Division of Medical Genetics (Medicine), University of Washington, Seattle, WA 98195\u20137110, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jason","family":"Treadaway","sequence":"additional","affiliation":[{"name":"Department of Developmental Neurobiology, St. Jude Children's Research Hospital, Memphis, TN 38105, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jason C.","family":"Higdon","sequence":"additional","affiliation":[{"name":"Department of Developmental Neurobiology, St. Jude Children's Research Hospital, Memphis, TN 38105, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Belinda S.","family":"Harris","sequence":"additional","affiliation":[{"name":"The Jackson Laboratory, Bar Harbor, ME 04609, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard L.","family":"Sidman","sequence":"additional","affiliation":[{"name":"Harvard Medical School and Department of Neurology, Beth Israel Deaconess Medical Center, Boston, MA 02115, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James I.","family":"Morgan","sequence":"additional","affiliation":[{"name":"Department of Developmental Neurobiology, St. Jude Children's Research Hospital, Memphis, TN 38105, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jian","family":"Zuo","sequence":"additional","affiliation":[{"name":"Department of Developmental Neurobiology, St. Jude Children's Research Hospital, Memphis, TN 38105, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"221","reference":[{"key":"e_1_3_1_2_2","doi-asserted-by":"crossref","unstructured":"R. L. Sidman M. C. Green S. H. Appel Catalog of the Neurological Mutants of the Mouse (Harvard University Press Cambridge MA 1965).","DOI":"10.4159\/harvard.9780674424326"},{"key":"e_1_3_1_3_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0959-4388(97)80118-3"},{"key":"e_1_3_1_4_2","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.physiol.62.1.779"},{"key":"e_1_3_1_5_2","doi-asserted-by":"publisher","DOI":"10.1002\/cne.901770109"},{"key":"e_1_3_1_6_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.73.1.208"},{"key":"e_1_3_1_7_2","doi-asserted-by":"crossref","unstructured":"S. O'Gorman J. Comp. Neurol. 234 298 (1985).","DOI":"10.1002\/cne.902340303"},{"key":"e_1_3_1_8_2","doi-asserted-by":"publisher","DOI":"10.1002\/cne.902340302"},{"key":"e_1_3_1_9_2","doi-asserted-by":"publisher","DOI":"10.1016\/0006-8993(82)90206-2"},{"key":"e_1_3_1_10_2","doi-asserted-by":"publisher","DOI":"10.1002\/cne.902120302"},{"key":"e_1_3_1_11_2","doi-asserted-by":"publisher","DOI":"10.1002\/cne.902120303"},{"key":"e_1_3_1_12_2","doi-asserted-by":"publisher","DOI":"10.1038\/258528a0"},{"key":"e_1_3_1_13_2","doi-asserted-by":"publisher","DOI":"10.1002\/mrd.1120040303"},{"key":"e_1_3_1_14_2","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1995.9925"},{"key":"e_1_3_1_15_2","doi-asserted-by":"publisher","DOI":"10.1016\/0169-328X(95)00275-W"},{"key":"e_1_3_1_16_2","doi-asserted-by":"crossref","unstructured":"A. Harris et al. Mol. Cell. Neurosci. 16 578 (2000).","DOI":"10.1007\/s100520000415"},{"key":"e_1_3_1_17_2","doi-asserted-by":"publisher","DOI":"10.1046\/j.1460-9568.2000.00044.x"},{"key":"e_1_3_1_18_2","doi-asserted-by":"crossref","unstructured":"B. A. Hamilton et al. Neuron 18 711 (1997).","DOI":"10.1016\/S0896-6273(00)80312-8"},{"key":"e_1_3_1_19_2","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/29.1.91"},{"key":"e_1_3_1_20_2","doi-asserted-by":"publisher","DOI":"10.1038\/270245a0"},{"key":"e_1_3_1_21_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0166-4328(05)80119-6"},{"key":"e_1_3_1_22_2","doi-asserted-by":"publisher","DOI":"10.1038\/378092a0"},{"key":"e_1_3_1_23_2","unstructured":"For long-distance PCR protocols of Takara Ex Taq polymerase (PanVera Corporation Madison WI) were followed using genomic DNA as templates."},{"key":"e_1_3_1_24_2","unstructured":"We thank B. Sopher R. Martinez P. Bailey and R. Bronson for technical expertise; E. Eicher for DNA samples and mapping of the CAST\/Ei x pcd 1J cross; M. Davisson and K. Johnson for support of initial characterization of pcd 3J ; N. Heintz and H. Soares for advice; and T. Curran for critical comments. Supported in part by NIH Cancer Center Support CORE grant CA21765 the American Lebanese Syrian Associated Charities (ALSAC) the March of Dimes Birth Defects Foundation (#5-FY98-0725 to J.Z.) the Christopher Reeve Paralysis Foundation (MBC1-0001 to J.I.M.) the A-T Children's Project (to R.L.S.) and NIH grants (EY 12950 and DC 04761 to J.Z. NS 40361 and ES 10772 (to J.I.M.) CA 23944 (to J.C.H.) and RR 01183 (to B.S.H.))."}],"container-title":["Science"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.science.org\/doi\/pdf\/10.1126\/science.1068912","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,1,9]],"date-time":"2024-01-09T22:31:53Z","timestamp":1704839513000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.science.org\/doi\/10.1126\/science.1068912"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2002,3,8]]},"references-count":23,"journal-issue":{"issue":"5561","published-print":{"date-parts":[[2002,3,8]]}},"alternative-id":["10.1126\/science.1068912"],"URL":"https:\/\/doi.org\/10.1126\/science.1068912","relation":{"has-review":[{"id-type":"doi","id":"10.3410\/f.1004823.56004","asserted-by":"object"}]},"ISSN":["0036-8075","1095-9203"],"issn-type":[{"value":"0036-8075","type":"print"},{"value":"1095-9203","type":"electronic"}],"subject":[],"published":{"date-parts":[[2002,3,8]]}}}