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    Article

    Multiple transcription start sites and alternative splicing in the methylenetetrahydrofolate reductase gene result in two enzyme isoforms

    Methylenetetrahydrofolate reductase (MTHFR) reduces 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, the major carbon donor in the remethylation of homocysteine to methionine. Mild MTHFR deficiency,...

    Pamela Tran, Daniel Leclerc, Manuel Chan, Aditya Pai, Francois Hiou-Tim in Mammalian Genome (2002)

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    The structure and properties of methylenetetrahydrofolate reductase from Escherichia coli suggest how folate ameliorates human hyperhomocysteinemia

    Elevated plasma homocysteine levels are associated with increased risk for cardiovascular disease and neural tube defects in humans. Folate treatment decreases homocysteine levels and dramatically reduces the ...

    Brian D. Guenther, Christal A. Sheppard, Pamela Tran in Nature Structural Biology (1999)

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    Gene structure of human and mouse methylenetetrahydrofolate reductase (MTHFR)

    Methylenetetrahydrofolate reductase (MTHFR) catalyzes the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, a co-substrate for homocysteine remethylation to methionine. A human cDNA fo...

    Philippe Goyette, Aditya Pai, Renate Milos, Phyllis Frosst, Pamela Tran in Mammalian Genome (1998)