Fig. 5
From: Neuronal network dysfunction in a model for Kleefstra syndrome mediated by enhanced NMDAR signaling
NMDA receptor subunit 1 is upregulated in KS patient-derived neurons. a Representative western blots and graph showing the NR1 protein levels in control and KS iNeurons at DIV 28. Values of KSMOS are normalized to CMOS and values of KSCRISPR are normalized to CCRISPR (n = 3). b ChIP assay of H3K9me2 followed by promoter-specific (BDNF_pr4, GRIN1_pr2, and PPIA_pr2) qPCR performed in iNeurons from CMOS, KSMOS, CCRISPR, and KSCRISPR (n = 4 for mosaic lines and n = 3 for crispr lines). c Representative images showing NR1 expression and quantification for CMOS, KSMOS, CCRISPR, and KSCRISPR (n = 12). d Schematic representation of methodology to obtain the AMPA and NMDA ratio. e Representative traces and quantification of NMDA/AMPA ratio for CMOS, KSMOS, CCRISPR, and KSCRISPR (n = 8). Blue bars indicate light stimulus. Scale bar 100 ms, 10 pA. Data represent means ± SEM. *P < 0.05, **P < 0.005, ***P < 0.0005, one-way ANOVA test and post hoc Bonferroni correction was performed between conditions. Source data is available as a Source Data file
