Cargando…
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...
Autores principales: | 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. |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Nature Pub. Group
2015
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4366506/ https://www.ncbi.nlm.nih.gov/pubmed/25736695 http://dx.doi.org/10.1038/ncomms7388 |
Ejemplares similares
Ejemplares similares
-
Regulation of glycine metabolism by the glycine cleavage system and conjugation pathway in mouse models of non‐ketotic hyperglycinemia
por: Leung, Kit‐Yi, et al.
Publicado: (2020) -
A novel mutation in the glycine decarboxylase gene in patient with non-ketotic hyperglycinemia
por: Kose, Engin, et al.
Publicado: (2017) -
Impaired folate 1-carbon metabolism causes formate-preventable hydrocephalus in glycine decarboxylase–deficient mice
por: Santos, Chloe, et al.
Publicado: (2020) -
Perioperative care of a child with non-ketotic hyperglycinemia
por: Allee, Joy, et al.
Publicado: (2010) -
Formate supplementation enhances folate-dependent nucleotide biosynthesis and prevents spina bifida in a mouse model of folic acid-resistant neural tube defects
por: Sudiwala, Sonia, et al.
Publicado: (2016)