{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T22:03:48Z","timestamp":1791929028921,"version":"4.3.4"},"reference-count":23,"publisher":"Oxford University Press (OUP)","issue":"7","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2012,7]]},"DOI":"10.1093\/brain\/aws122","type":"journal-article","created":{"date-parts":[[2012,5,15]],"date-time":"2012-05-15T03:28:03Z","timestamp":1337052483000},"page":"2022-2031","source":"Crossref","is-referenced-by-count":115,"title":["Molecular characterization of folate receptor 1 mutations delineates cerebral folate transport deficiency"],"prefix":"10.1093","volume":"135","author":[{"given":"M.","family":"Grapp","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"I. A.","family":"Just","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T.","family":"Linnankivi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P.","family":"Wolf","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T.","family":"L\u00fccke","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"H\u00e4usler","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"G\u00e4rtner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R.","family":"Steinfeld","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2012,5,12]]},"reference":[{"key":"key\n\t\t\t\t20170425173423_aws122-B1","doi-asserted-by":"crossref","first-page":"2807","DOI":"10.1182\/blood.V79.11.2807.2807","article-title":"The biological chemistry of folate receptors","volume":"79","author":"Antony","year":"1992","journal-title":"Blood"},{"key":"key\n\t\t\t\t20170425173423_aws122-B2","doi-asserted-by":"crossref","first-page":"216","DOI":"10.1016\/j.ajhg.2011.01.004","article-title":"Identification and characterization of an inborn error of metabolism caused by dihydrofolate reductase deficiency","volume":"88","author":"Banka","year":"2011","journal-title":"Am J Hum Genet"},{"key":"key\n\t\t\t\t20170425173423_aws122-B3","doi-asserted-by":"crossref","first-page":"2127","DOI":"10.1212\/WNL.0b013e3181c679df","article-title":"Congenital null mutations of the FOLR1 gene: a progressive neurologic disease and its treatment","volume":"73","author":"Cario","year":"2009","journal-title":"Neurology"},{"key":"key\n\t\t\t\t20170425173423_aws122-B4","doi-asserted-by":"crossref","first-page":"226","DOI":"10.1016\/j.ajhg.2011.01.007","article-title":"Dihydrofolate reductase deficiency due to a homozygous DHFR mutation causes megaloblastic anemia and cerebral folate deficiency leading to severe neurologic disease","volume":"88","author":"Cario","year":"2011","journal-title":"Am J Hum Genet"},{"key":"key\n\t\t\t\t20170425173423_aws122-B5","doi-asserted-by":"crossref","first-page":"362","DOI":"10.1016\/j.ymgme.2011.05.019","article-title":"Pyridoxal phosphate-responsive seizures in a patient with cerebral folate deficiency (CFD) and congenital deafness with labyrinthine aplasia, microtia and microdontia (LAMM)","volume":"104","author":"Dill","year":"2011","journal-title":"Mol Genet Metab"},{"key":"key\n\t\t\t\t20170425173423_aws122-B6","doi-asserted-by":"crossref","first-page":"308","DOI":"10.1093\/jn\/134.2.308","article-title":"Point mutations alter the cellular distribution of the human folate receptor in cultured Chinese hamster ovary cells","volume":"134","author":"Doucette","year":"2004","journal-title":"J Nutr"},{"key":"key\n\t\t\t\t20170425173423_aws122-B7","doi-asserted-by":"crossref","first-page":"195","DOI":"10.1038\/ng0694-195","article-title":"Human methylenetetrahydrofolate reductase: isolation of cDNA, mapping and mutation identification","volume":"7","author":"Goyette","year":"1994","journal-title":"Nat Genet"},{"key":"key\n\t\t\t\t20170425173423_aws122-B8","doi-asserted-by":"crossref","first-page":"67","DOI":"10.1002\/humu.10236","article-title":"The molecular basis of glutamate formiminotransferase deficiency","volume":"22","author":"Hilton","year":"2003","journal-title":"Hum Mutat"},{"key":"key\n\t\t\t\t20170425173423_aws122-B9","doi-asserted-by":"crossref","first-page":"563","DOI":"10.1007\/s10545-010-9159-6","article-title":"Cerebral folate deficiency","volume":"33","author":"Hyland","year":"2010","journal-title":"J Inherit Metab Dis"},{"key":"key\n\t\t\t\t20170425173423_aws122-B10","doi-asserted-by":"crossref","first-page":"811","DOI":"10.1212\/WNL.0b013e31820e7b25","article-title":"POLG1 manifestations in childhood","volume":"76","author":"Isohanni","year":"2011","journal-title":"Neurology"},{"key":"key\n\t\t\t\t20170425173423_aws122-B11","doi-asserted-by":"crossref","first-page":"1085","DOI":"10.1016\/j.addr.2004.01.002","article-title":"A review of folate receptor alpha cycling and 5-methyltetrahydrofolate accumulation with an emphasis on cell models in vitro","volume":"56","author":"Kamen","year":"2004","journal-title":"Adv Drug Deliv Rev"},{"key":"key\n\t\t\t\t20170425173423_aws122-B12","doi-asserted-by":"crossref","first-page":"1867","DOI":"10.1093\/hmg\/5.12.1867","article-title":"Human methionine synthase: cDNA cloning and identification of mutations in patients of the cblG complementation group of folate\/cobalamin disorders","volume":"5","author":"Leclerc","year":"1996","journal-title":"Hum Mol Genet"},{"key":"key\n\t\t\t\t20170425173423_aws122-B13","doi-asserted-by":"crossref","first-page":"3059","DOI":"10.1073\/pnas.95.6.3059","article-title":"Cloning and mapping of a cDNA for methionine synthase reductase, a flavoprotein defective in patients with homocystinuria","volume":"95","author":"Leclerc","year":"1998","journal-title":"Proc Natl Acad Sci USA"},{"key":"key\n\t\t\t\t20170425173423_aws122-B14","doi-asserted-by":"crossref","first-page":"369","DOI":"10.1016\/j.ymgme.2011.06.004","article-title":"Cerebral folate deficiency: a neurometabolic syndrome?","volume":"104","author":"Mangold","year":"2011","journal-title":"Mol Genet Metab"},{"key":"key\n\t\t\t\t20170425173423_aws122-B15","doi-asserted-by":"crossref","first-page":"795","DOI":"10.1007\/s10545-010-9196-1","article-title":"Progressive ataxia and myoclonic epilepsy in a patient with a homozygous mutation in the FOLR1 gene","volume":"33","author":"Perez-Duenas","year":"2010","journal-title":"J Inherit Metab Dis"},{"key":"key\n\t\t\t\t20170425173423_aws122-B16","doi-asserted-by":"crossref","first-page":"917","DOI":"10.1016\/j.cell.2006.09.041","article-title":"Identification of an intestinal folate transporter and the molecular basis for hereditary folate malabsorption","volume":"127","author":"Qiu","year":"2006","journal-title":"Cell"},{"key":"key\n\t\t\t\t20170425173423_aws122-B17","doi-asserted-by":"crossref","first-page":"843","DOI":"10.1111\/j.1469-8749.2004.tb00451.x","article-title":"Cerebral folate deficiency","volume":"46","author":"Ramaekers","year":"2004","journal-title":"Dev Med Child Neurol"},{"key":"key\n\t\t\t\t20170425173423_aws122-B18","doi-asserted-by":"crossref","first-page":"1985","DOI":"10.1056\/NEJMoa043160","article-title":"Autoantibodies to folate receptors in the cerebral folate deficiency syndrome","volume":"352","author":"Ramaekers","year":"2005","journal-title":"N Engl J Med"},{"key":"key\n\t\t\t\t20170425173423_aws122-B19","first-page":"3897","article-title":"Inherited disorders of folate and cobalamin transport and metabolism","volume-title":"The metabolic and molecular bases of inherited disease","author":"Rosenblatt","year":"2001"},{"key":"key\n\t\t\t\t20170425173423_aws122-B20","doi-asserted-by":"crossref","first-page":"354","DOI":"10.1016\/j.ajhg.2009.08.005","article-title":"Folate receptor alpha defect causes cerebral folate transport deficiency: a treatable neurodegenerative disorder associated with disturbed myelin metabolism","volume":"85","author":"Steinfeld","year":"2009","journal-title":"Am J Hum Genet"},{"key":"key\n\t\t\t\t20170425173423_aws122-B21","first-page":"3396","article-title":"Distribution of the folate receptor GP38 in normal and malignant cell lines and tissues","volume":"52","author":"Weitman","year":"1992","journal-title":"Cancer Res"},{"key":"key\n\t\t\t\t20170425173423_aws122-B22","first-page":"6708","article-title":"Cellular localization of the folate receptor: potential role in drug toxicity and folate homeostasis","volume":"52","author":"Weitman","year":"1992","journal-title":"Cancer Res"},{"key":"key\n\t\t\t\t20170425173423_aws122-B23","doi-asserted-by":"crossref","first-page":"4267","DOI":"10.1074\/jbc.M807665200","article-title":"A role for the proton-coupled folate transporter (PCFT-SLC46A1) in folate receptor-mediated endocytosis","volume":"284","author":"Zhao","year":"2009","journal-title":"J Biol Chem"}],"container-title":["Brain"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/brain\/article-pdf\/135\/7\/2022\/13800462\/aws122.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,7,7]],"date-time":"2020-07-07T17:30:51Z","timestamp":1594143051000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/brain\/article-lookup\/doi\/10.1093\/brain\/aws122"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,5,12]]},"references-count":23,"journal-issue":{"issue":"7","published-online":{"date-parts":[[2012,5,12]]},"published-print":{"date-parts":[[2012,7]]}},"URL":"https:\/\/doi.org\/10.1093\/brain\/aws122","relation":{},"ISSN":["1460-2156","0006-8950"],"issn-type":[{"value":"1460-2156","type":"electronic"},{"value":"0006-8950","type":"print"}],"subject":[],"published":{"date-parts":[[2012,5,12]]}}}