Targeted insertion of two Mthfr promoters in mice reveals temporal- and tissue-specific regulation

Abstract

Methylenetetrahydrofolate reductase (MTHFR), a key enzyme in folate metabolism, synthesizes 5-methyltetrahydrofolate, the main circulatory form of folate which is required for maintaining nontoxic levels of homocysteine and providing one-carbon units for methylation. A common 677C → T variant in MTHFR confers mild MTHFR deficiency and has been associated… (More)
DOI: 10.1007/s00335-011-9351-5

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