Article
Biochemical analysis of patients with mutations in MTHFD1 and a diagnosis of methylenetetrahydrofolate dehydrogenase 1 deficiency.
Molecular genetics and metabolism - 1 Jul 2020
Bidla Gawa, Watkins David, Chéry Céline, Froese D Sean, Ells Courtney, Kerachian Matin, Saskin Avi, Christensen Karen E, Gilfix Brian M, Guéant Jean-Louis, Rosenblatt David S
Abstract excerpt
MTHFD1 is a trifunctional protein containing 10-formyltetrahydrofolate synthetase, 5,10-methenyltetrahydrofolate cyclohydrolase and 5,10-methylenetetrahydrofolate dehydrogenase activities. It is encoded by MTHFD1 and functions in the cytoplasmic folate cycle where it is involved in de novo purine synthesis, synthesis of thymidylate and remethylation of homocysteine to methionine. Since the first reported case of...
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