{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,17]],"date-time":"2026-10-17T15:11:05Z","timestamp":1792249865078,"version":"4.4.0"},"reference-count":36,"publisher":"American Society for Clinical Investigation","issue":"3","license":[{"start":{"date-parts":[[2020,3,2]],"date-time":"2020-03-02T00:00:00Z","timestamp":1583107200000},"content-version":"vor","delay-in-days":27,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Medical Research Council","award":["N003713"],"award-info":[{"award-number":["N003713"]}]},{"name":"Newlife Foundation for Disabled Children","award":["13-14 05"],"award-info":[{"award-number":["13-14 05"]}]},{"DOI":"10.13039\/501100000317","name":"Action Medical Research","doi-asserted-by":"crossref","award":["GN2403"],"award-info":[{"award-number":["GN2403"]}],"id":[{"id":"10.13039\/501100000317","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2020,2,4]]},"DOI":"10.1172\/jci132360","type":"journal-article","created":{"date-parts":[[2019,12,3]],"date-time":"2019-12-03T12:01:49Z","timestamp":1575374509000},"page":"1446-1452","source":"Crossref","is-referenced-by-count":28,"title":["Impaired folate 1-carbon metabolism causes formate-preventable hydrocephalus in glycine decarboxylase\u2013deficient mice"],"prefix":"10.1172","volume":"130","author":[{"given":"Chloe","family":"Santos","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yun Jin","family":"Pai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M. Raasib","family":"Mahmood","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7868-9616","authenticated-orcid":false,"given":"Kit-Yi","family":"Leung","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dawn","family":"Savery","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Simon N.","family":"Waddington","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2544-9117","authenticated-orcid":false,"given":"Andrew J.","family":"Copp","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4170-5248","authenticated-orcid":false,"given":"Nicholas D.E.","family":"Greene","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"232","published-online":{"date-parts":[[2020,2,4]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","DOI":"10.1016\/j.spen.2009.01.002"},{"key":"B2","doi-asserted-by":"publisher","DOI":"10.1016\/j.siny.2012.06.004"},{"key":"B3","doi-asserted-by":"publisher","DOI":"10.1146\/annurev-neuro-070815-014023"},{"key":"B4","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2014.06.002"},{"key":"B5","doi-asserted-by":"publisher","DOI":"10.3171\/2017.10.JNS17439"},{"key":"B6","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuron.2018.06.019"},{"key":"B7","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.54.3.754"},{"key":"B8","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-011-9398-1"},{"key":"B9","doi-asserted-by":"publisher","DOI":"10.2183\/pjab.84.246"},{"key":"B10","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2016.74"},{"key":"B11","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000144270.83080.29"},{"key":"B12","doi-asserted-by":"crossref","DOI":"10.1038\/ncomms7388","article-title":"Glycine decarboxylase deficiency causes neural tube defects and features of non-ketotic hyperglycinemia in mice","volume":"6","author":"Pai","year":"2015","journal-title":"Nat Commun"},{"key":"B13","doi-asserted-by":"publisher","DOI":"10.1016\/j.celrep.2017.10.072"},{"key":"B14","doi-asserted-by":"publisher","DOI":"10.1002\/pd.5004"},{"key":"B15","doi-asserted-by":"publisher","DOI":"10.1007\/s00381-017-3441-y"},{"key":"B16","doi-asserted-by":"publisher","DOI":"10.1159\/000452169"},{"key":"B17","first-page":"117","article-title":"SCO-ping out the mechanisms underlying the etiology of hydrocephalus","volume":"24","author":"Huh","year":"2009","journal-title":"Physiology (Bethesda)"},{"key":"B18","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0029041"},{"key":"B19","doi-asserted-by":"publisher","DOI":"10.1007\/s00429-014-0740-x"},{"key":"B20","doi-asserted-by":"publisher","DOI":"10.1007\/s00401-009-0624-y"},{"key":"B21","doi-asserted-by":"publisher","DOI":"10.1002\/ar.1091200407"},{"key":"B22","doi-asserted-by":"publisher","DOI":"10.1093\/jn\/88.4.375"},{"key":"B23","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2990.1988.tb00887.x"},{"key":"B24","doi-asserted-by":"publisher","DOI":"10.1177\/0271678X18776226"},{"key":"B25","doi-asserted-by":"publisher","DOI":"10.1016\/j.coph.2013.09.011"},{"issue":"Pt 7","key":"B26","doi-asserted-by":"crossref","first-page":"2022","DOI":"10.1093\/brain\/aws122","article-title":"Molecular characterization of folate receptor 1 mutations delineates cerebral folate transport deficiency","volume":"135","author":"Grapp","year":"2012","journal-title":"Brain"},{"key":"B27","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.08.005"},{"key":"B28","doi-asserted-by":"publisher","DOI":"10.1002\/jimd.12012"},{"issue":"6","key":"B29","doi-asserted-by":"crossref","first-page":"335","DOI":"10.1055\/s-2001-20411","article-title":"The pathogenesis of hydrocephalus in inborn errors of the single carbon transfer pathway","volume":"32","author":"Rossi","year":"2001","journal-title":"Neuropediatrics"},{"key":"B30","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddr585"},{"key":"B31","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13189"},{"key":"B32","doi-asserted-by":"publisher","DOI":"10.1002\/bdra.23552"},{"key":"B33","doi-asserted-by":"crossref","DOI":"10.1038\/ncomms1909","article-title":"Trim71 cooperates with microRNAs to repress Cdkn1a expression and promote embryonic stem cell proliferation","volume":"3","author":"Chang","year":"2012","journal-title":"Nat Commun"},{"key":"B34","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.21.22.7787-7795.2001"},{"key":"B35","doi-asserted-by":"publisher","DOI":"10.1002\/dneu.22142"},{"key":"B36","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/10.5.433"}],"container-title":["Journal of Clinical Investigation"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.jci.org\/articles\/view\/132360\/files\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,3]],"date-time":"2023-08-03T13:32:52Z","timestamp":1691069572000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.jci.org\/articles\/view\/132360"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,2,4]]},"references-count":36,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2020,3,2]]},"published-print":{"date-parts":[[2020,3,2]]}},"alternative-id":["10.1172\/JCI132360"],"URL":"https:\/\/doi.org\/10.1172\/jci132360","relation":{},"ISSN":["0021-9738","1558-8238"],"issn-type":[{"value":"0021-9738","type":"print"},{"value":"1558-8238","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,2,4]]}}}