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

Impairing TDP-43 RNA-binding capacity through a single acetylation-mimic mutation alters TDP-43 function and recapitulates biochemical, molecular, and behavioral features of sporadic TDP-43 proteinopathies, thus providing opportunities for new research into pathogenic mechanisms and therapeutic interventions.

Microcephaly-associated mutations disrupt microtubule-dependent WDR62 translocation from the Golgi complex to the mitotic spindle poles, impair mitotic progression, and alter neurogenic trajectories in patient induced Pluripotent Stem Cell-derived 2D and 3D models of human neurodevelopment.

A 7-dehydrocholesterol-derived oxysterol in SLOS was found to profoundly impact neurogenesis during cortical development by interacting with glucocorticoid receptor, which points to new therapeutic approaches for SLOS by targeting the activities of this oxysterol.

A vessel and brain fusion organoid model provides a platform for the study of interactions between neuronal and non-neuronal components during brain development and functioning.

RNA-binding proteins use both translational activation and repression of key molecular determinants to post-mitotically sculpt the identity and connectivity of developing mouse neocortex in an area-specific manner.

Giant ankyrin-B enables the transduction of Sema 3A repelling cues and is important for normal axonal connectivity.

The miR-34/449 family is abundantly expressed in the central nervous system, and fine-tunes optimal numbers of spinal interneurons to ensure sensory-motor circuit outputs.