Mutations in genes encoding the glycine cleavage system predispose to neural tube defects in mice and humans.

doi:10.1093/hmg/ddr585

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Article

Mutations in genes encoding the glycine cleavage system predispose to neural tube defects in mice and humans.

Human molecular genetics - 1 Apr 2012

Narisawa Ayumi, Komatsuzaki Shoko, Kikuchi Atsuo, Niihori Tetsuya, Aoki Yoko, Fujiwara Kazuko, Tanemura Mitsuyo, Hata Akira, Suzuki Yoichi, Relton Caroline L, Grinham James, Leung Kit-Yi, Partridge Darren, Robinson Alexis, Stone Victoria, Gustavsson Peter, Stanier Philip, Copp Andrew J, Greene Nicholas D E, Tominaga Teiji, Matsubara Yoichi, Kure Shigeo

Abstract excerpt

Neural tube defects (NTDs), including spina bifida and anencephaly, are common birth defects of the central nervous system. The complex multigenic causation of human NTDs, together with the large number of possible candidate genes, has hampered efforts to delineate their molecular basis. Function of folate one-carbon metabolism (FOCM) has been implicated as a key determinant of susceptibility to NTDs. The glycine...

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Identifiers

PMID: 22171071
DOI: 10.1093/hmg/ddr585
PMCID: PMC3298276

Genes

AMT
GLDC
GCSH

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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