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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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Библиографические подробности
Опубликовано в: :Eur J Hum Genet
Главные авторы: 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
Формат: Artigo
Язык:Inglês
Опубликовано: Nature Publishing Group 2016
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Online-ссылка: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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