Aoife Murray

Acute BRD4 degradation and BD2 mutations de-repress bivalent developmental and neuronal genes in human stem cells and organoids, consistent with BRD4 recruitment by H3K14ac/H3K23ac and interaction with PRC1.6.

This study shows that trisomy 21 in human isogenic iPSC-derived neurons leads to abnormal neuronal and synaptic morphology, similar to findings in human brain tissue.

This study shows that trisomy 21 impairs cortical circuit development by disrupting synaptic connectivity and intrinsic membrane properties in neurons.

This study compares N-glycosylation profiles of iPSCs and NSCs from DS and non-DS individuals, finding altered glycan structures in T21 cells during neural differentiation.

The paper shows that trisomy 21 cerebral organoids exhibit AD-like pathology, which can be suppressed by BACE2 trisomy and inhibited by BACE1 inhibitors, suggesting BACE2 as an AD-suppressor gene.