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Deletion of Mthfd1l causes embryonic lethality and neural tube and craniofacial defects in mice.

Momb J, Lewandowski JP, Bryant JD, Fitch R, Surman DR, Vokes SA, Appling DR.

Proc Natl Acad Sci U S A. 2013 Jan 8;110(2):549-54. doi: 10.1073/pnas.1211199110. Epub 2012 Dec 24.


Maternal Mthfd1 disruption impairs fetal growth but does not cause neural tube defects in mice.

Beaudin AE, Perry CA, Stabler SP, Allen RH, Stover PJ.

Am J Clin Nutr. 2012 Apr;95(4):882-91. doi: 10.3945/ajcn.111.030783. Epub 2012 Feb 29.


Mitochondrial C1-tetrahydrofolate synthase (MTHFD1L) supports the flow of mitochondrial one-carbon units into the methyl cycle in embryos.

Pike ST, Rajendra R, Artzt K, Appling DR.

J Biol Chem. 2010 Feb 12;285(7):4612-20. doi: 10.1074/jbc.M109.079855. Epub 2009 Nov 30.


Moderate folic acid supplementation and MTHFD1-synthetase deficiency in mice, a model for the R653Q variant, result in embryonic defects and abnormal placental development.

Christensen KE, Hou W, Bahous RH, Deng L, Malysheva OV, Arning E, Bottiglieri T, Caudill MA, Jerome-Majewska LA, Rozen R.

Am J Clin Nutr. 2016 Nov;104(5):1459-1469. Epub 2016 Oct 5.


Mitochondrial one-carbon metabolism and neural tube defects.

Momb J, Appling DR.

Birth Defects Res A Clin Mol Teratol. 2014 Aug;100(8):576-83. doi: 10.1002/bdra.23268. Epub 2014 Jul 1. Review.


An NTD-associated polymorphism in the 3' UTR of MTHFD1L can affect disease risk by altering miRNA binding.

Minguzzi S, Selcuklu SD, Spillane C, Parle-McDermott A.

Hum Mutat. 2014 Jan;35(1):96-104. doi: 10.1002/humu.22459.


A novel mouse model for genetic variation in 10-formyltetrahydrofolate synthetase exhibits disturbed purine synthesis with impacts on pregnancy and embryonic development.

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.

Hum Mol Genet. 2013 Sep 15;22(18):3705-19. doi: 10.1093/hmg/ddt223. Epub 2013 May 23.


Formate supplementation enhances folate-dependent nucleotide biosynthesis and prevents spina bifida in a mouse model of folic acid-resistant neural tube defects.

Sudiwala S, De Castro SC, Leung KY, Brosnan JT, Brosnan ME, Mills K, Copp AJ, Greene ND.

Biochimie. 2016 Jul;126:63-70. doi: 10.1016/j.biochi.2016.02.010. Epub 2016 Feb 23.


MTHFD1 formyltetrahydrofolate synthetase deficiency, a model for the MTHFD1 R653Q variant, leads to congenital heart defects in mice.

Christensen KE, Deng L, Bahous RH, Jerome-Majewska LA, Rozen R.

Birth Defects Res A Clin Mol Teratol. 2015 Dec;103(12):1031-8. doi: 10.1002/bdra.23451. Epub 2015 Sep 26.


Distinct effects of folate pathway genes MTHFR and MTHFD1L on ruminative response style: a potential risk mechanism for depression.

Eszlari N, Kovacs D, Petschner P, Pap D, Gonda X, Elliott R, Anderson IM, Deakin JF, Bagdy G, Juhasz G.

Transl Psychiatry. 2016 Mar 1;6:e745. doi: 10.1038/tp.2016.19.


Genotyping of a tri-allelic polymorphism by a novel melting curve assay in MTHFD1L: an association study of nonsyndromic Cleft in Ireland.

Minguzzi S, Molloy AM, Peadar K, Mills J, Scott JM, Troendle J, Pangilinan F, Brody L, Parle-McDermott A.

BMC Med Genet. 2012 Apr 20;13:29. doi: 10.1186/1471-2350-13-29.


Mitochondrial MTHFD2L is a dual redox cofactor-specific methylenetetrahydrofolate dehydrogenase/methenyltetrahydrofolate cyclohydrolase expressed in both adult and embryonic tissues.

Shin M, Bryant JD, Momb J, Appling DR.

J Biol Chem. 2014 May 30;289(22):15507-17. doi: 10.1074/jbc.M114.555573. Epub 2014 Apr 14.


Genetic polymorphism rs6922269 in the MTHFD1L gene is associated with survival and baseline active vitamin B12 levels in post-acute coronary syndromes patients.

Palmer BR, Slow S, Ellis KL, Pilbrow AP, Skelton L, Frampton CM, Palmer SC, Troughton RW, Yandle TG, Doughty RN, Whalley GA, Lever M, George PM, Chambers ST, Ellis C, Richards AM, Cameron VA.

PLoS One. 2014 Mar 11;9(3):e89029. doi: 10.1371/journal.pone.0089029. eCollection 2014.


Human mitochondrial C1-tetrahydrofolate synthase: gene structure, tissue distribution of the mRNA, and immunolocalization in Chinese hamster ovary calls.

Prasannan P, Pike S, Peng K, Shane B, Appling DR.

J Biol Chem. 2003 Oct 31;278(44):43178-43187. doi: 10.1074/jbc.M304319200. Epub 2003 Aug 22.


The MTHFD1L gene rs11754661 marker is not associated with Alzheimer's disease in a sample of the Spanish population.

Ramírez-Lorca R, Boada M, Antúnez C, López-Arrieta J, Moreno-Rey C, Hernández I, Marín J, Gayán J, González-Pérez A, Alegret M, Tárraga L, Real LM, Ruiz A.

J Alzheimers Dis. 2011;25(1):47-50. doi: 10.3233/JAD-2011-101983.


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