Maternal Mthfd1 disruption impairs fetal growth but does not cause neural tube defects in mice | Zendy

Anna E. Beaudin | Zendy; Cheryll A. Perry | Zendy; Sally P. Stabler | Zendy; Robert H. Allen | Zendy; Patrick J. Stover | Zendy

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Maternal Mthfd1 disruption impairs fetal growth but does not cause neural tube defects in mice

Author(s) -

Anna E. Beaudin,

Cheryll A. Perry,

Sally P. Stabler,

Robert H. Allen,

Patrick J. Stover

Publication year - 2012

Publication title -

american journal of clinical nutrition

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 2.608

H-Index - 336

eISSN - 1938-3207

pISSN - 0002-9165

DOI - 10.3945/ajcn.111.030783

Subject(s) - neural tube , cystathionine beta synthase , choline , homocysteine , biology , fetus , medicine , methionine , endocrinology , methionine synthase , neural tube defect , methylenetetrahydrofolate reductase , pregnancy , andrology , embryo , genotype , biochemistry , genetics , gene , amino acid

MTHFD1 encodes C1-tetrahydrofolate synthase, which is a folate-dependent enzyme that catalyzes the formation and interconversion of folate-activated one-carbon groups for nucleotide biosynthesis and cellular methylation. A polymorphism in MTHFD1 (1958G→A) impairs enzymatic activity and is associated with increased risk of adverse pregnancy outcomes, but the mechanisms are unknown.

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