Dean Nižetić

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.

The paper constructs a single-cell atlas of fetal Down syndrome cortex, identifying chromosome 21 transcription factors that regulate intellectual disability gene networks and showing their normalization can restore molecular signatures.

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.

This study identifies non-APP chromosome 21 genes that influence amyloid-β biology in Down syndrome mouse models, independent of APP copy number.

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.

This study shows that neurofilament light (NF-L) levels in blood increase with age and predict dementia in adults with Down syndrome, suggesting its potential as a non-invasive biomarker for neurodegeneration.