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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. Christensen KE, et al. Among authors: bahous rh. Am J Clin Nutr. 2016 Nov;104(5):1459-1469. doi: 10.3945/ajcn.116.139519. Epub 2016 Oct 5. Am J Clin Nutr. 2016. PMID: 27707701 Free article.
High dietary folate in pregnant mice leads to pseudo-MTHFR deficiency and altered methyl metabolism, with embryonic growth delay and short-term memory impairment in offspring.
Bahous RH, Jadavji NM, Deng L, Cosín-Tomás M, Lu J, Malysheva O, Leung KY, Ho MK, Pallàs M, Kaliman P, Greene NDE, Bedell BJ, Caudill MA, Rozen R. Bahous RH, et al. Hum Mol Genet. 2017 Mar 1;26(5):888-900. doi: 10.1093/hmg/ddx004. Hum Mol Genet. 2017. PMID: 28069796 Free PMC article.