Elly Lewerissa

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.

Integrative transcriptomics and electrophysiological profiling of hiPSC-derived neurons identifies novel druggable pathways in Koolen-de Vries Syndrome

MEA-LINK identifies the CCL4-CCR5 axis in neuronal hyperactivity control by human microglia

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

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.

Neuronal autophagosomes are transported to astrocytes for degradation

The paper identifies a novel pathway where astrocytes clear pre-synaptic autophagosomes from neurons through a cholesterol-dependent endocytosis process without requiring direct cell contact or retrograde transport.

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.

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.