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...

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Detalhes bibliográficos
Publicado no:J Clin Invest
Main Authors: Santos, Chloe, Pai, Yun Jin, Mahmood, M. Raasib, Leung, Kit-Yi, Savery, Dawn, Waddington, Simon N., Copp, Andrew J., Greene, Nicholas D.E.
Formato: Artigo
Idioma:Inglês
Publicado em: American Society for Clinical Investigation 2020
Assuntos:
Concise Communication
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7269562/
https://ncbi.nlm.nih.gov/pubmed/31794432
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI132360
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