{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,11]],"date-time":"2026-04-11T13:45:23Z","timestamp":1775915123937,"version":"3.50.1"},"reference-count":46,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2004,10,8]],"date-time":"2004-10-08T00:00:00Z","timestamp":1097193600000},"content-version":"vor","delay-in-days":2352,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Annals of Neurology"],"published-print":{"date-parts":[[1998,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Recently, variant mRNA transcripts for the astroglial glutamate transporter EAAT2 have been detected in brain tissues of 60% of patients with sporadic amyotrophic lateral sclerosis (SALS). We have tested the hypothesis that the gene for EAAT2 may be defective in some ALS cases. In 16 familial ALS (FALS) pedigrees without mutations in SODI, we failed to detect genetic linkage to the EAAT2 locus. We next characterized the genomic organization of the EAAT2 gene and used single\u2010strad conformation polymorphism analysis of genomic DNA to identify one novel mutation in a single SALS patient and two novel mutations in 2 affected FALS siblings. In the SALS patient, the mutation substitutes serine for an asparagine that might be involved in N\u2010linked glycosylation of the EAAT2 protein. In the 2 affected individuals in the FALS family, we detected both a mutation in the 5\u2032 end of intron 7 and a silent G\u2192A transition at codon 234 in exon 5. It remains unclear whether this intron 7 mutation is related to the defective mRNA splicing. These studies indicate that germline mutations in the EAAT2 gene are infrequent and do not explain the presence of variant mRNA transcripts of EAAT2 in more than one\u2010half of ALS cases.<\/jats:p>","DOI":"10.1002\/ana.410430514","type":"journal-article","created":{"date-parts":[[2005,1,1]],"date-time":"2005-01-01T15:15:36Z","timestamp":1104592536000},"page":"645-653","source":"Crossref","is-referenced-by-count":83,"title":["Mutations in the glutamate transporter EAAT2 gene do not cause abnormal EAAT2 transcripts in amyotrophic lateral sclerosis"],"prefix":"10.1002","volume":"43","author":[{"given":"Masashi","family":"Aoki","sequence":"first","affiliation":[]},{"given":"Chien\u2010Liang G.","family":"Lin","sequence":"additional","affiliation":[]},{"given":"Jeffrey D.","family":"Rothstein","sequence":"additional","affiliation":[]},{"given":"Brian A.","family":"Geller","sequence":"additional","affiliation":[]},{"given":"Besty A.","family":"Hosler","sequence":"additional","affiliation":[]},{"given":"Theodore L.","family":"Munsat","sequence":"additional","affiliation":[]},{"given":"H. Robert","family":"Horvitz","sequence":"additional","affiliation":[]},{"suffix":"Jr.","given":"Robert H.","family":"Brown","sequence":"additional","affiliation":[]}],"member":"311","published-online":{"date-parts":[[2004,10,8]]},"reference":[{"key":"e_1_2_1_2_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.36.4.511"},{"key":"e_1_2_1_3_2","doi-asserted-by":"publisher","DOI":"10.1038\/362059a0"},{"key":"e_1_2_1_4_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.8351519"},{"key":"e_1_2_1_5_2","first-page":"225","article-title":"Mild ALS in Japan associated with novel SOD mutation","volume":"6","author":"Aoki M","year":"1994","journal-title":"Nat Genet"},{"key":"e_1_2_1_5_3","doi-asserted-by":"publisher","DOI":"10.1038\/ng1293-323"},{"key":"e_1_2_1_6_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410410212"},{"key":"e_1_2_1_7_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410220503"},{"key":"e_1_2_1_8_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199205283262204"},{"key":"e_1_2_1_9_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0404.1993.tb04186.x"},{"key":"e_1_2_1_10_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1471-4159.1984.tb09689.x"},{"key":"e_1_2_1_11_2","doi-asserted-by":"publisher","DOI":"10.1038\/360467a0"},{"key":"e_1_2_1_12_2","doi-asserted-by":"publisher","DOI":"10.1016\/0896-6273(94)90038-8"},{"key":"e_1_2_1_13_2","doi-asserted-by":"publisher","DOI":"10.1038\/375599a0"},{"key":"e_1_2_1_14_2","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.17-21-08363.1997"},{"key":"e_1_2_1_15_2","doi-asserted-by":"publisher","DOI":"10.1038\/360464a0"},{"key":"e_1_2_1_15_3","doi-asserted-by":"publisher","DOI":"10.1038\/360464a0"},{"key":"e_1_2_1_16_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.89.22.10955"},{"key":"e_1_2_1_17_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410380114"},{"key":"e_1_2_1_18_2","unstructured":"LinG BristolLA JinLet al.Aberrant RNA processing in a neurodegerative disease: a common cause for loss of glutamate transport EAAT2 protein in sporadic amyotrophic lateral sclerosis. 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