Article
Low Dietary Folate Interacts with MTHFD1 Synthetase Deficiency in Mice, a Model for the R653Q Variant, to Increase Incidence of Developmental Delays and Defects.
The Journal of nutrition - 1 Apr 2018
Christensen Karen E, Bahous Renata H, Hou Wenyang, Deng Liyuan, Malysheva Olga V, Arning Erland, Bottiglieri Teodoro, Caudill Marie A, Jerome-Majewska Loydie A, Rozen Rima
Abstract excerpt
Background: Suboptimal folate intake, a risk factor for birth defects, is common even in areas with folate fortification. A polymorphism in methylenetetrahydrofolate dehydrogenase 1 (MTHFD1), R653Q (MTHFD1 c.1958 G > A), has also been associated with increased birth defect risk, likely through reduced purine synthesis. Objective: We aimed to determine if the interaction of MTHFD1 synthetase deficiency and low...
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