Article
A novel mouse model for genetic variation in 10-formyltetrahydrofolate synthetase exhibits disturbed purine synthesis with impacts on pregnancy and embryonic development.
Human molecular genetics - 15 Sept 2013
Christensen K E, Deng L, Leung K Y, Arning E, Bottiglieri T, Malysheva O V, Caudill M A, Krupenko N I, Greene N D, Jerome-Majewska L, MacKenzie R E, Rozen R
Abstract excerpt
Genetic variants in one-carbon folate metabolism have been identified as risk factors for disease because they may impair the production or use of one-carbon folates required for nucleotide synthesis and methylation. p.R653Q (1958G>A) is a single-nucleotide polymorphism (SNP) in the 10-formyltetrahydrofolate (formylTHF) synthetase domain of the trifunctional enzyme MTHFD1; this domain produces the formylTHF which...
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