{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,23]],"date-time":"2026-09-23T18:18:03Z","timestamp":1790187483797,"version":"4.1.0"},"reference-count":27,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2012,10,29]],"date-time":"2012-10-29T00:00:00Z","timestamp":1351468800000},"content-version":"vor","delay-in-days":28,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Annals of Neurology"],"published-print":{"date-parts":[[2012,10]]},"abstract":"Abstract<\/jats:title>\n \n Objective:<\/jats:title>\n \n Primary lateral sclerosis (PLS) is a motor neuron disorder that exclusively affects upper motor neurons leading to their degeneration. Mutations in the\n ALS2<\/jats:italic>\n gene encoding the protein Alsin have been described previously in the juvenile form of the disease. In this study, we identify mutation of the\n ERLIN2<\/jats:italic>\n gene in juvenile PLS patients and describe an in vitro model for loss of\n ERLIN2<\/jats:italic>\n function.\n <\/jats:p>\n <\/jats:sec>\n \n Methods:<\/jats:title>\n \n Single nucleotide polymorphism arrays were used for homozygosity mapping. DNA sequencing of candidate genes was used to detect the underlying mutation. Level of\n ERLIN2<\/jats:italic>\n mRNA was measured by quantitative real time polymerase chain reaction. Knocking down\n ERLIN2<\/jats:italic>\n in NSC34 cells was accomplished by short\u2010hairpin RNA interference.\n <\/jats:p>\n <\/jats:sec>\n \n Results:<\/jats:title>\n \n We identified a splice junction mutation in the\n ERLIN2<\/jats:italic>\n gene\u2014a component of the endoplasmic reticulum (ER) lipid rafts\u2014that resulted in abnormal splicing of\n ERLIN2<\/jats:italic>\n transcript and nonsense\u2010mediated decay of\n ERLIN2<\/jats:italic>\n mRNA. Knocking down\n ERLIN2<\/jats:italic>\n in NSC34 cells suppressed their growth in culture.\n <\/jats:p>\n <\/jats:sec>\n \n Interpretation:<\/jats:title>\n \n Recently, we found that mutation of\n SIGMAR1<\/jats:italic>\n , a component of ER lipid rafts, leads to juvenile amyotrophic lateral sclerosis. The identification of mutation in another component of the ER lipid rafts in juvenile PLS patients emphasizes their role in motor neuron function. Furthermore, the discovered effect of\n ERLIN2<\/jats:italic>\n loss on cell growth may advance understanding of the mechanism behind motor neuron degeneration in PLS. ANN NEUROL 2012;72:510\u2013516\n <\/jats:p>\n <\/jats:sec>","DOI":"10.1002\/ana.23641","type":"journal-article","created":{"date-parts":[[2012,5,9]],"date-time":"2012-05-09T07:28:18Z","timestamp":1336548498000},"page":"510-516","source":"Crossref","is-referenced-by-count":70,"title":["Loss of\n ERLIN2<\/i>\n function leads to juvenile primary lateral sclerosis"],"prefix":"10.1002","volume":"72","author":[{"given":"Amr","family":"Al\u2010Saif","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Saeed","family":"Bohlega","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Futwan","family":"Al\u2010Mohanna","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2012,10,29]]},"reference":[{"key":"e_1_2_7_2_2","doi-asserted-by":"publisher","DOI":"10.1002\/mus.20728"},{"key":"e_1_2_7_3_2","doi-asserted-by":"publisher","DOI":"10.1080\/14660820410021267"},{"key":"e_1_2_7_4_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/115.2.495"},{"key":"e_1_2_7_5_2","doi-asserted-by":"publisher","DOI":"10.1055\/s-2007-979781"},{"key":"e_1_2_7_6_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.39.11.1530"},{"key":"e_1_2_7_7_2","doi-asserted-by":"publisher","DOI":"10.1177\/088307389601100114"},{"key":"e_1_2_7_8_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng1001-160"},{"key":"e_1_2_7_9_2","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.65.3.383"},{"key":"e_1_2_7_10_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddr070"},{"key":"e_1_2_7_11_2","doi-asserted-by":"publisher","DOI":"10.1007\/s10048-011-0291-8"},{"key":"e_1_2_7_12_2","doi-asserted-by":"publisher","DOI":"10.1242\/jcs.03060"},{"key":"e_1_2_7_13_2","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M701862200"},{"key":"e_1_2_7_14_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.1068999"},{"key":"e_1_2_7_15_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.22534"},{"key":"e_1_2_7_16_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ceb.2004.03.003"},{"key":"e_1_2_7_17_2","first-page":"387","article-title":"Evaluation of the spinal cord neuron X neuroblastoma hybrid cell line NSC\u201034 as a model for neurotoxicity testing","volume":"14","author":"Durham HD","year":"1993","journal-title":"Neurotoxicology"},{"key":"e_1_2_7_18_2","doi-asserted-by":"publisher","DOI":"10.1038\/nrg2680"},{"key":"e_1_2_7_19_2","first-page":"839","article-title":"Exome","volume":"33","author":"Daoud H","year":"2011","journal-title":"Neurobiol Aging"},{"key":"e_1_2_7_20_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.brainresbull.2010.02.013"},{"key":"e_1_2_7_21_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.1174621"},{"key":"e_1_2_7_22_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ceca.2006.06.006"},{"key":"e_1_2_7_23_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ceca.2009.02.009"},{"key":"e_1_2_7_24_2","doi-asserted-by":"publisher","DOI":"10.1124\/mol.61.3.486"},{"key":"e_1_2_7_25_2","doi-asserted-by":"publisher","DOI":"10.1038\/nrm2546"},{"key":"e_1_2_7_26_2","doi-asserted-by":"publisher","DOI":"10.1038\/nature10353"},{"key":"e_1_2_7_27_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ceca.2005.06.019"},{"key":"e_1_2_7_28_2","doi-asserted-by":"publisher","DOI":"10.1097\/NEN.0b013e3181d44992"}],"container-title":["Annals of Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fana.23641","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ana.23641","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,16]],"date-time":"2023-10-16T23:49:13Z","timestamp":1697500153000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ana.23641"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,10]]},"references-count":27,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2012,10]]}},"alternative-id":["10.1002\/ana.23641"],"URL":"https:\/\/doi.org\/10.1002\/ana.23641","archive":["Portico"],"relation":{},"ISSN":["0364-5134","1531-8249"],"issn-type":[{"value":"0364-5134","type":"print"},{"value":"1531-8249","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,10]]}}}