Dirk Schubert

MEA-LINK identifies CCL4-CCR5 signaling as a mechanism by which human microglia regulate neuronal hyperactivity through secreted factors and network activity.

This paper develops a co-maturation protocol to study human microglia-neuron interactions using hiPSCs, showing astrocytes are needed for microglia survival and integration into neuronal networks.

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.

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

This study uses human iPSC-derived neuronal networks to show that homeostatic plasticity involves network re-arrangement, increased excitability, and changes in gene expression related to extracellular matrix and cell communication.

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.

FriendlyClearMap simplifies and extends the ClearMap pipeline for mouse brain analysis, enabling efficient and scalable neuroanatomical studies.

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.

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.

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

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

This study shows that MAOA dysfunction in Brunner syndrome leads to increased NMDAR activity and neuronal network hyperactivity in dopaminergic neurons.

This study characterizes SETD1A haploinsufficiency in humans and Drosophila, identifying a novel neurodevelopmental syndrome with cognitive and developmental symptoms.

This study shows that mitochondrial dysfunction in human neurons, caused by high heteroplasmy of the m.3243A>G variant, leads to impaired neural development, reduced synaptic connectivity, and decreased network activity.

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.

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.

This study shows that altered serotonergic signaling during early postnatal development impairs adult sensorimotor control in rats.

This study investigates MAOA dysfunction in Brunner Syndrome using iPSC-derived dopaminergic neurons, finding increased NMDA receptor expression and network activity.