Cargando…
Impaired folate 1-carbon metabolism causes formate-preventable hydrocephalus in glycine decarboxylase–deficient mice
Ventriculomegaly and hydrocephalus are associated with loss of function of glycine decarboxylase (Gldc) in mice and in humans suffering from non-ketotic hyperglycinemia (NKH), a neurometabolic disorder characterized by accumulation of excess glycine. Here, we showed that ventriculomegaly in Gldc-def...
Autores principales: | Santos, Chloe, Pai, Yun Jin, Mahmood, M. Raasib, Leung, Kit-Yi, Savery, Dawn, Waddington, Simon N., Copp, Andrew J., Greene, Nicholas D.E. |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
American Society for Clinical Investigation
2020
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7269562/ https://www.ncbi.nlm.nih.gov/pubmed/31794432 http://dx.doi.org/10.1172/JCI132360 |
Ejemplares similares
-
Glycine decarboxylase deficiency causes neural tube defects and features of non-ketotic hyperglycinemia in mice
por: Pai, Yun Jin, et al.
Publicado: (2015) -
Partitioning of One-Carbon Units in Folate and Methionine Metabolism Is Essential for Neural Tube Closure
por: Leung, Kit-Yi, et al.
Publicado: (2017) -
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) -
Use of high‐frequency ultrasound to study the prenatal development of cranial neural tube defects and hydrocephalus in Gldc‐deficient mice
por: Autuori, Maria C., et al.
Publicado: (2017) -
Folate metabolite profiling of different cell types and embryos suggests variation in folate one-carbon metabolism, including developmental changes in human embryonic brain
por: Leung, Kit-Yi, et al.
Publicado: (2013)