Hans van Bokhoven

Navigating Human Astrocyte Differentiation: Direct and Rapid one-step Differentiation of Induced Pluripotent Stem Cells to Functional Astrocytes Supporting Neuronal Network development

This study presents a one-step protocol to differentiate hiPSCs into functional astrocytes, enabling co-culture with neurons to support network development.

The microtubule-binding protein EML3 is required for mammalian embryonic growth and cerebral cortical development; Eml3 null mice are a model of cobblestone brain malformation

This study shows that EML3 is essential for embryonic growth and cortical development, with its absence causing cobblestone brain malformation due to disrupted pial basement membrane structure.

Dissecting the sources of variation in neuronally differentiated iPSC lines through multi-omics analysis

The paper identifies major sources of variability in iPSC-derived neurons and shows how correcting these improves disease signature detection.

KG-Bench: Benchmarking Graph Neural Network Algorithms for Drug Repurposing

KG-Bench benchmarks graph neural networks for drug repurposing using the Open Targets dataset, finding TransformerConv achieves the highest performance.

Whole-brain clearing reveals region- and cell type-specific imbalances in inhibitory neurons in a mouse model for Kleefstra Syndrome

The paper uses whole-brain clearing and imaging to identify region- and cell type-specific changes in GABAergic neurons in a mouse model of Kleefstra Syndrome.

Human-Specific Regulation of CHD2 Controls the Tempo of Cortical Development through Lysosomal Homeostasis

This study identifies a human-specific CHD2 regulatory variant that influences cortical development tempo via lysosomal homeostasis, showing therapeutic potential through lysosomal restoration.

CACNA1A haploinsufficiency leads to reduced synaptic function and increased intrinsic excitability

This study characterizes a human neuronal model of CACNA1A haploinsufficiency, revealing synaptic deficits and increased intrinsic excitability linked to reduced potassium channel function.

SCN1A-deficient hiPSC-derived excitatory neuronal networks display mutation-specific phenotypes

This study investigates SCN1A mutations in excitatory neuronal networks derived from patient hiPSCs, revealing mutation-specific phenotypes that correlate with clinical outcomes and drug responses.

Loss-of-function variants in the schizophrenia risk gene SETD1A alter neuronal network activity in human neurons through cAMP/PKA pathway

This study shows that SETD1A loss-of-function mutations increase dendritic complexity and neuronal bursting in human neurons via a hyperactive cAMP/PKA pathway, which can be rescued by pharmacological intervention.

Human neuronal networks on micro-electrode arrays are a highly robust tool to study disease-specific genotype-phenotype correlations in vitro

The paper benchmarks MEA recordings from healthy hiPSC-derived neuronal networks to establish standards for experimental design and analysis, showing MEAs are robust for disease-phenotyping and drug discovery.

KANSL1 Deficiency Causes Neuronal Dysfunction by Oxidative Stress-Induced Autophagy

This study shows that KANSL1 deficiency leads to oxidative stress-induced autophagy, causing synaptic dysfunction and neuronal network impairments in neurons.

Cadherin-13 is a critical regulator of GABAergic modulation in human stem cell derived neuronal networks

This study investigates the role of CDH13 in regulating GABAergic inhibition in human-derived neuronal networks and shows its impact on E/I balance.

KMT2D haploinsufficiency in Kabuki Syndrome disrupts neuronal function through transcriptional and chromatin rewiring independent of H3K4-monomethylation

This study investigates how KMT2D mutations in Kabuki Syndrome disrupt neuronal function through chromatin and transcriptional changes, independent of H3K4me1.

Distinct pathogenic genes causing intellectual disability and autism exhibit overlapping effects on neuronal network development

The paper investigates how mutations in distinct genes causing intellectual disability and autism affect neuronal network development, finding shared effects on excitability and synaptic function.

Neuronal network dysfunction in a human model for Kleefstra syndrome mediated by enhanced NMDAR signaling

This study shows that EHMT1 deficiency in human neurons leads to NMDAR hyperfunction, causing neuronal network dysfunction in Kleefstra syndrome, and demonstrates pharmacological rescue of these phenotypes.

Mutant p63 affects epidermal cell identity through rewiring the enhancer landscape

This study investigates how p63 mutations alter the enhancer landscape in epidermal keratinocytes, affecting cell identity through changes in gene regulation.