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Studies with mice and brain organoids models reveals that dysregulation of GTF2IRD1-TTR-ERK pathway significantly contributes to neuronal deficits of Williams syndrome.

Pituitary organoids help identify NFKB2 as a new actor during pituitary development, and mutations of this gene as the cause for pituitary deficit observed in patients with DAVID syndrome.

A novel 2D-to-3D human brain organoid protocol reveals the pivotal role of FGF8 signaling in driving regional patterning and cellular diversity, while also modulating genes crucial for both normal and pathological neural development.

The water channel AQP4 contributes to a tonic water outflow from brain astrocytes, thereby modulating their volume dynamics and the ambient water homeostasis.

PTEN mutations disrupt inhibitory GABAergic signaling, causing neurodevelopmental defects that can be mitigated by β-hydroxybutyrate, which activates DAF-16/FOXO and may offer a therapeutic approach for excitation/inhibition imbalances.

A critical review of the limitations posed by current preclinical animal models of Alzheimer's disease and of the oversimplistic assumptions proposed by the amyloid cascade hypothesis (ACH).