{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,17]],"date-time":"2026-06-17T01:56:54Z","timestamp":1781661414582,"version":"3.54.5"},"reference-count":21,"publisher":"Elsevier BV","issue":"3","license":[{"start":{"date-parts":[[2020,7,1]],"date-time":"2020-07-01T00:00:00Z","timestamp":1593561600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2020,7,1]],"date-time":"2020-07-01T00:00:00Z","timestamp":1593561600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"funder":[{"DOI":"10.13039\/501100001711","name":"Schweizerischer Nationalfonds zur F\u00c3\u00b6rderung der Wissenschaftlichen Forschung","doi-asserted-by":"publisher","award":["31003A_175779"],"award-info":[{"award-number":["31003A_175779"]}],"id":[{"id":"10.13039\/501100001711","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Molecular Genetics and Metabolism"],"published-print":{"date-parts":[[2020,7]]},"DOI":"10.1016\/j.ymgme.2020.04.008","type":"journal-article","created":{"date-parts":[[2020,5,5]],"date-time":"2020-05-05T11:54:34Z","timestamp":1588679674000},"page":"179-182","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":18,"title":["Biochemical analysis of patients with mutations in MTHFD1 and a diagnosis of methylenetetrahydrofolate dehydrogenase 1 deficiency"],"prefix":"10.1016","volume":"130","author":[{"given":"Gawa","family":"Bidla","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Watkins","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C\u00e9line","family":"Ch\u00e9ry","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D. Sean","family":"Froese","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Courtney","family":"Ells","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matin","family":"Kerachian","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Avi","family":"Saskin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karen E.","family":"Christensen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brian M.","family":"Gilfix","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean-Louis","family":"Gu\u00e9ant","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David S.","family":"Rosenblatt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ymgme.2020.04.008_bb0005","doi-asserted-by":"crossref","first-page":"595","DOI":"10.1002\/bies.20420","article-title":"Mitochondrial one-carbon metabolism is adapted to the specific needs of yeast, plants and mammals","volume":"28","author":"Christensen","year":"2006","journal-title":"BioEssays"},{"key":"10.1016\/j.ymgme.2020.04.008_bb0010","first-page":"1","article-title":"Folate-mediated one-carbon metabolism","volume":"79","author":"Fox","year":"2011","journal-title":"Vitam. Horm."},{"key":"10.1016\/j.ymgme.2020.04.008_bb0015","doi-asserted-by":"crossref","first-page":"29642","DOI":"10.1074\/jbc.M114.599589","article-title":"Nuclear enrichment of folate cofactors and methylenetetrahydrofolate dehydrogenase 1 (MTHFD1) protect de novo thymidylate biosynthesis during folate deficiency","volume":"289","author":"Field","year":"2014","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.ymgme.2020.04.008_bb0020","doi-asserted-by":"crossref","first-page":"400","DOI":"10.1073\/pnas.1414555112","article-title":"Human mutations in methylenetetrahydrofolate dehydrogenase 1 impair nuclear de novo thymidylate biosynthesis","volume":"112","author":"Field","year":"2015","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"10.1016\/j.ymgme.2020.04.008_bb0025","doi-asserted-by":"crossref","unstructured":"Hum W, MacKenzie RE. Expression of active domains of a human folate-dependent trifunctional enzyme in Escherichia coli. Protein Eng. 4:493\u2013500.","DOI":"10.1093\/protein\/4.4.493"},{"key":"10.1016\/j.ymgme.2020.04.008_bb0030","doi-asserted-by":"crossref","unstructured":"Christensen KE, Deng L, Leung KY, Arning E, Bottiglieri T, Malysheva OV, Caudill MA, Krupenko NI, Greene ND, Jerome-Majewska L, MacKenzie RE, Rozen R. A novel mouse model for genetic variation in 10-formyltetrahydrofolate synthetase exhibits disturbed purine synthesis with impacts on pregnancy and embryonic development. Hum. Mol. Genet. 22:3705\u20133719.","DOI":"10.1093\/hmg\/ddt223"},{"key":"10.1016\/j.ymgme.2020.04.008_bb0035","doi-asserted-by":"crossref","first-page":"1533","DOI":"10.1074\/jbc.M808281200","article-title":"Mthfd1 is an essential gene in mice and alters biomarkers of impaired one-carbon metabolism","volume":"284","author":"MacFarlane","year":"2009","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.ymgme.2020.04.008_bb0040","doi-asserted-by":"crossref","first-page":"590","DOI":"10.1136\/jmedgenet-2011-100286","article-title":"Novel inborn error of folate metabolism: identification by exome capture and sequencing of mutations in the MTHFD1 gene in a single proband","volume":"48","author":"Watkins","year":"2011","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.ymgme.2020.04.008_bb0045","doi-asserted-by":"crossref","first-page":"e629","DOI":"10.1542\/peds.2012-0899","article-title":"Severe combined immunodeficiency resulting from mutations in MTHFD1","volume":"131","author":"Keller","year":"2013","journal-title":"Pediatrics"},{"key":"10.1016\/j.ymgme.2020.04.008_bb0050","doi-asserted-by":"crossref","first-page":"863","DOI":"10.1007\/s10545-015-9810-3","article-title":"Characterization and review of MTHFD1 deficiency: four new patients, cellular delineation and response to folic and folinic acid treatment","volume":"38","author":"Burda","year":"2015","journal-title":"J. Inher. Metab. Dis."},{"key":"10.1016\/j.ymgme.2020.04.008_bb0055","doi-asserted-by":"crossref","first-page":"1160","DOI":"10.1016\/j.jaip.2016.07.014","article-title":"Precision molecular diagnosis defines specific therapy in combined immunodeficiency with megaloblastic anemia secondary to MTHFD1 deficiency","volume":"4","author":"Ramakrishnan","year":"2016","journal-title":"J. Allergy Clin. Immunol. Pract."},{"key":"10.1016\/j.ymgme.2020.04.008_bb0060","doi-asserted-by":"crossref","first-page":"782","DOI":"10.3389\/fimmu.2018.00782","article-title":"High incidence of severe combined immunodeficiency disease in Saudi Arabia detected through combined T cell receptor excision circle and next generation sequencing of newborn dried blood spots","volume":"9","author":"Al-Mousa","year":"2018","journal-title":"Front. Immunol."},{"key":"10.1016\/j.ymgme.2020.04.008_bb0065","doi-asserted-by":"crossref","first-page":"995","DOI":"10.1016\/j.biochi.2013.01.022","article-title":"Gastric intrinsic factor deficiency with combined GIF heterozygous mutations and FUT2 secretor variant","volume":"95","author":"Chery","year":"2013","journal-title":"Biochimie"},{"key":"10.1016\/j.ymgme.2020.04.008_bb0070","unstructured":"National Center for Biotechnology Information. ClinVar; [VCV000446306.1], https:\/\/www.ncbi.nlm.nih.gov\/clinvar\/variation\/VCV000446306.1 (accessed Dec. 17, 2019)."},{"key":"10.1016\/j.ymgme.2020.04.008_bb0075","unstructured":"National Center for Biotechnology Information. ClinVar; [VCV000446307.1], https:\/\/www.ncbi.nlm.nih.gov\/clinvar\/variation\/VCV000446307.1 (accessed Dec. 17, 2019)."},{"key":"10.1016\/j.ymgme.2020.04.008_bb0080","first-page":"531210","article-title":"Variation across 141,456 human exomes and genomes reveals the spectrum of loss-of-function intolerance across human protein-coding genes","author":"Karczewski","year":"2019","journal-title":"BioRxiv"},{"key":"10.1016\/j.ymgme.2020.04.008_bb0085","doi-asserted-by":"crossref","first-page":"7597","DOI":"10.1074\/jbc.M409380200","article-title":"Disruption of the Mthfd1 gene reveals a monofunctional 10-formyltetrahydrofolate synthetase in mammalian mitochondria","volume":"280","author":"Christensen","year":"2005","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.ymgme.2020.04.008_bb0090","doi-asserted-by":"crossref","first-page":"265","DOI":"10.1016\/S0021-9258(19)52451-6","article-title":"Protein measurement with the Folin phenol reagent","volume":"193","author":"Lowry","year":"1951","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.ymgme.2020.04.008_bb0095","doi-asserted-by":"crossref","first-page":"66","DOI":"10.1139\/o88-008","article-title":"The NADP-dependent trifunctional methylenetetrahydrofolate dehydrogenase purified from mouse liver is immunologically distinct from the mouse NAD-dependent bifunctional enzyme","volume":"66","author":"Gardam","year":"1988","journal-title":"Biochem. Cell Biol."},{"key":"10.1016\/j.ymgme.2020.04.008_bb0100","doi-asserted-by":"crossref","unstructured":"MacKenzie RE, Tan LUKL. Methylenetetrahydrofolate dehydrogenase-methenyltetrahydrofolate cyclohydrolase-formyltetrahydrofolate synthetase. A multifunctional protein from porcine liver. Methods Enzymol. 66:609\u2013615.","DOI":"10.1016\/0076-6879(80)66514-8"},{"key":"10.1016\/j.ymgme.2020.04.008_bb0105","doi-asserted-by":"crossref","first-page":"14616","DOI":"10.1016\/S0021-9258(17)38612-X","article-title":"NAD-dependent methylenetetrahydrofolate dehydrogenase is expressed by immortal cells","volume":"260","author":"Mejia","year":"1985","journal-title":"J. Biol. Chem."}],"container-title":["Molecular Genetics and Metabolism"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096719220301141?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096719220301141?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,21]],"date-time":"2025-10-21T23:25:03Z","timestamp":1761089103000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1096719220301141"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,7]]},"references-count":21,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2020,7]]}},"alternative-id":["S1096719220301141"],"URL":"https:\/\/doi.org\/10.1016\/j.ymgme.2020.04.008","relation":{},"ISSN":["1096-7192"],"issn-type":[{"value":"1096-7192","type":"print"}],"subject":[],"published":{"date-parts":[[2020,7]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Biochemical analysis of patients with mutations in MTHFD1 and a diagnosis of methylenetetrahydrofolate dehydrogenase 1 deficiency","name":"articletitle","label":"Article Title"},{"value":"Molecular Genetics and Metabolism","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ymgme.2020.04.008","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2020 Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}