Sergi Simó

This study identifies de novo PANX1 mutations in individuals with PMG and microcephaly, showing they disrupt glycosylation, increase ATP release, and alter cortical development through ion conductance and cell fate regulation.

This study shows Kif26a is required for axon tract guidance in the developing mouse brain, with defects similar to the Fzd3-Celsr3-Dystroglycan pathway.

This study investigates the role of Sonic Hedgehog signaling in retinal development, revealing new functions in optic nerve head identity, nasal-temporal polarity, and coordination of neurogenesis.

This study shows let-7 microRNA regulates both neuronal fate and migration in the neocortex through distinct pathways involving RBX2 and CRL5.

This study investigates how mitochondrial dysfunction and immune activation contribute to retinal ganglion cell degeneration in optic neuropathy using transgenic models.

The paper identifies human-specific gene expansions linked to brain evolution by analyzing genome sequences and functional models in zebrafish.

This paper uses zebrafish to study SRGAP2 duplication, showing its role in microglia and visual system development, with phenotypes resembling human conditions.

This study shows Notch signaling regulates miRNA levels to control neuron fate determination and telencephalic development.

This study investigates the role of NCAM2 in regulating adult neurogenesis and neuronal differentiation by analyzing its effects on radial glial progenitors in the dentate gyrus and during corticogenesis.

This study identifies CRL5 as a regulator of hippocampal development by controlling Arl4c and Arf6, which are essential for pyramidal neuron migration and dendritogenesis.