Glycine decarboxylase deficiency causes neural tube defects and features of non-ketotic hyperglycinemia in mice

Glycine decarboxylase (GLDC) acts in the glycine cleavage system to decarboxylate glycine and transfer a one-carbon unit into folate one-carbon metabolism. GLDC mutations cause a rare recessive disease non-ketotic hyperglycinemia (NKH). Mutations have also been identified in patients with neural tub...

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Publicat a:Nat Commun
Autors principals: Pai, Yun Jin, Leung, Kit-Yi, Savery, Dawn, Hutchin, Tim, Prunty, Helen, Heales, Simon, Brosnan, Margaret E., Brosnan, John T., Copp, Andrew J., Greene, Nicholas D.E.
Format: Artigo
Idioma:Inglês
Publicat: Nature Pub. Group 2015
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Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4366506/
https://ncbi.nlm.nih.gov/pubmed/25736695
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ncomms7388
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