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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. Momb J, et al. Proc Natl Acad Sci U S A. 2013 Jan 8;110(2):549-54. doi: 10.1073/pnas.1211199110. Epub 2012 Dec 24. Proc Natl Acad Sci U S A. 2013. PMID: 23267094 Free PMC article.
Despite the strong clinical link between folate and NTDs, the biochemical mechanisms through which folic acid acts during neural tube development remain undefined. The Mthfd1l gene encodes a mitochondrial monofunctional 10-formyl-tetrahydrofolate synthetase, termed MTHF …
Despite the strong clinical link between folate and NTDs, the biochemical mechanisms through which folic acid acts during neural tube develo …
Dementia revealed: novel chromosome 6 locus for late-onset Alzheimer disease provides genetic evidence for folate-pathway abnormalities.
Naj AC, Beecham GW, Martin ER, Gallins PJ, Powell EH, Konidari I, Whitehead PL, Cai G, Haroutunian V, Scott WK, Vance JM, Slifer MA, Gwirtsman HE, Gilbert JR, Haines JL, Buxbaum JD, Pericak-Vance MA. Naj AC, et al. PLoS Genet. 2010 Sep 23;6(9):e1001130. doi: 10.1371/journal.pgen.1001130. PLoS Genet. 2010. PMID: 20885792 Free PMC article.
In summary, we observed and replicated a novel statistically significant association in MTHFD1L, a gene involved in the tetrahydrofolate synthesis pathway. This finding is noteworthy, as MTHFD1L may play a role in the generation of methionine from homocysteine and i …
In summary, we observed and replicated a novel statistically significant association in MTHFD1L, a gene involved in the tetrahydrofol …