Imbalance of excitatory/inhibitory synaptic protein expression in iPSC-derived neurons from FOXG1(+/−) patients and in foxg1(+/−) mice

Rett syndrome (RTT) is a severe neurodevelopmental disorder associated with mutations in either MECP2, CDKL5 or FOXG1. The precise molecular mechanisms that lead to the pathogenesis of RTT have yet to be elucidated. We recently reported that expression of GluD1 (orphan glutamate receptor δ-1 subunit...

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Detalhes bibliográficos
Publicado no:Eur J Hum Genet
Main Authors: Patriarchi, Tommaso, Amabile, Sonia, Frullanti, Elisa, Landucci, Elisa, Lo Rizzo, Caterina, Ariani, Francesca, Costa, Mario, Olimpico, Francesco, W Hell, Johannes, M Vaccarino, Flora, Renieri, Alessandra, Meloni, Ilaria
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2016
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4820038/
https://ncbi.nlm.nih.gov/pubmed/26443267
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2015.216
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