Glycine decarboxylase deficiency–induced motor dysfunction in zebrafish is rescued by counterbalancing glycine synaptic level

Glycine encephalopathy (GE), or nonketotic hyperglycinemia (NKH), is a rare recessive genetic disease caused by defective glycine cleavage and characterized by increased accumulation of glycine in all tissues. Here, based on new case reports of GLDC loss-of-function mutations in GE patients, we aime...

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Publicado en:JCI Insight
Autores principales: Riché, Raphaëlle, Liao, Meijiang, Pena, Izabella A., Leung, Kit-Yi, Lepage, Nathalie, Greene, Nicolas D.E., Sarafoglou, Kyriakie, Schimmenti, Lisa A., Drapeau, Pierre, Samarut, Éric
Formato: Artigo
Lenguaje:Inglês
Publicado: American Society for Clinical Investigation 2018
Materias:
Research Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC6238748/
https://ncbi.nlm.nih.gov/pubmed/30385710
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/jci.insight.124642
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