{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,13]],"date-time":"2025-05-13T17:16:49Z","timestamp":1747156609060,"version":"3.40.5"},"reference-count":13,"publisher":"Elsevier BV","issue":"2","license":[{"start":{"date-parts":[[2019,2,1]],"date-time":"2019-02-01T00:00:00Z","timestamp":1548979200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"funder":[{"name":"Agency of Medical Research and Development"},{"name":"JSPS KAKENHI"}],"content-domain":{"domain":["clinicalkey.jp","clinicalkey.com","clinicalkey.es","clinicalkey.fr","clinicalkey.com.au","brainanddevelopment.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Brain and Development"],"published-print":{"date-parts":[[2019,2]]},"DOI":"10.1016\/j.braindev.2018.08.009","type":"journal-article","created":{"date-parts":[[2018,9,10]],"date-time":"2018-09-10T09:40:13Z","timestamp":1536572413000},"page":"195-200","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":2,"title":["Aggregate formation analysis of GFAPR416W found in one case of Alexander disease"],"prefix":"10.1016","volume":"41","author":[{"given":"Janyerkye","family":"Tulyeu","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Moe","family":"Tamaura","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eriko","family":"Jimbo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hiroko","family":"Shimbo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kyoko","family":"Takano","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mizue","family":"Iai","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sumimasa","family":"Yamashita","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tomohide","family":"Goto","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Noriko","family":"Aida","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Etsuro","family":"Tokuhiro","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Takanori","family":"Yamagata","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1320-1165","authenticated-orcid":false,"given":"Hitoshi","family":"Osaka","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.braindev.2018.08.009_b0005","unstructured":"Srivastava S, Naidu S. Alexander disease. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, et al, editors. GeneReviews. Seattle, WA: All rights reserved; 1993."},{"key":"10.1016\/j.braindev.2018.08.009_b0015","doi-asserted-by":"crossref","first-page":"391","DOI":"10.1016\/S0736-5748(02)00045-X","article-title":"Alexander disease: a review and the gene","volume":"20","author":"Johnson","year":"2002","journal-title":"Int J Dev Neurosci"},{"key":"10.1016\/j.braindev.2018.08.009_b0010","doi-asserted-by":"crossref","first-page":"921","DOI":"10.1002\/glia.22795","article-title":"The enteric glia: identity and functions","volume":"63","author":"Coelho-Aguiar Jde","year":"2015","journal-title":"Glia"},{"key":"10.1016\/j.braindev.2018.08.009_b0020","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1186\/s40478-016-0337-0","article-title":"Modeling Alexander disease with patient iPSCs reveals cellular and molecular pathology of astrocytes","volume":"4","author":"Kondo","year":"2016","journal-title":"Acta Neuropathol Commun"},{"key":"10.1016\/j.braindev.2018.08.009_b0025","doi-asserted-by":"crossref","first-page":"1287","DOI":"10.1212\/WNL.0b013e3182309f72","article-title":"GFAP mutations, age at onset, and clinical subtypes in Alexander disease","volume":"77","author":"Prust","year":"2011","journal-title":"Neurology"},{"key":"10.1016\/j.braindev.2018.08.009_b0030","doi-asserted-by":"crossref","first-page":"259","DOI":"10.1016\/S0736-5748(02)00019-9","article-title":"GFAP mutations in Alexander disease","volume":"20","author":"Li","year":"2002","journal-title":"Int J Dev Neurosci"},{"key":"10.1016\/j.braindev.2018.08.009_b0035","doi-asserted-by":"crossref","first-page":"2321","DOI":"10.1093\/brain\/awn178","article-title":"Adult-onset Alexander disease: a series of eleven unrelated cases with review of the literature","volume":"131","author":"Pareyson","year":"2008","journal-title":"Brain"},{"key":"10.1016\/j.braindev.2018.08.009_b0040","doi-asserted-by":"crossref","first-page":"117","DOI":"10.1038\/83679","article-title":"Mutations in GFAP, encoding glial fibrillary acidic protein, are associated with Alexander disease","volume":"27","author":"Brenner","year":"2001","journal-title":"Nat Genet"},{"key":"10.1016\/j.braindev.2018.08.009_b0045","doi-asserted-by":"crossref","first-page":"211","DOI":"10.1186\/s12883-016-0734-9","article-title":"Atypical MRI features in familial adult onset Alexander disease: case report","volume":"16","author":"Liu","year":"2016","journal-title":"BMC Neurol"},{"key":"10.1016\/j.braindev.2018.08.009_b0050","doi-asserted-by":"crossref","first-page":"494","DOI":"10.1212\/01.wnl.0000198770.80743.37","article-title":"Alexander disease: ventricular garlands and abnormalities of the medulla and spinal cord","volume":"66","author":"van der Knaap","year":"2006","journal-title":"Neurology"},{"key":"10.1016\/j.braindev.2018.08.009_b0055","doi-asserted-by":"crossref","first-page":"197","DOI":"10.1086\/504411","article-title":"The Alexander disease-causing glial fibrillary acidic protein mutant, R416W, accumulates into Rosenthal fibers by a pathway that involves filament aggregation and the association of alpha B-crystallin and HSP27","volume":"79","author":"Der Perng","year":"2006","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.braindev.2018.08.009_b0060","doi-asserted-by":"crossref","first-page":"440","DOI":"10.1111\/j.1440-1789.2011.01268.x","article-title":"Clinical aspects and pathology of Alexander disease, and morphological and functional alteration of astrocytes induced by GFAP mutation","volume":"32","author":"Yoshida","year":"2012","journal-title":"Neuropathology"},{"key":"10.1016\/j.braindev.2018.08.009_b0065","doi-asserted-by":"crossref","first-page":"1066","DOI":"10.1124\/mol.111.071761","article-title":"Ca2+\/calmodulin-dependent kinase (CaMK) signaling via CaMKI and AMP-activated protein kinase contributes to the regulation of WIPI-1 at the onset of autophagy","volume":"80","author":"Pfisterer","year":"2011","journal-title":"Mol Pharmacol"}],"container-title":["Brain and Development"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0387760418302006?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0387760418302006?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2019,1,17]],"date-time":"2019-01-17T22:43:01Z","timestamp":1547764981000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0387760418302006"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,2]]},"references-count":13,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2019,2]]}},"alternative-id":["S0387760418302006"],"URL":"https:\/\/doi.org\/10.1016\/j.braindev.2018.08.009","relation":{},"ISSN":["0387-7604"],"issn-type":[{"type":"print","value":"0387-7604"}],"subject":[],"published":{"date-parts":[[2019,2]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Aggregate formation analysis of GFAPR416W found in one case of Alexander disease","name":"articletitle","label":"Article Title"},{"value":"Brain and Development","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.braindev.2018.08.009","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2018 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}]}}