Topic: neural progenitor proliferation

The cerebral cortex development is a process that involves the coordinated sequence of neural progenitor proliferation, neuronal differentiation and migration. Possible dysregulation of such processes results in malformations of cortical development (MCDs), such as periventricular heterotopias and polymicrogyria, which are characterized by morphological and functional cerebral complications. MCDs can be caused either by genetic or environmental factors. In this project, we selected to study a centriole and centriolar satellite gene, reported mutated in a patient with extensive polymicrogyria a

Developmental and epileptic encephalopathies (DEE) are a spectrum of severe neurological disorders with poorly understood aetiologies, often involving metabolic dysfunctions. Biallelic recessive pathogenic variants in the Solute carrier family 13 member 5 gene (SLC13A5) gene cause a severe form of DEE, characterized by intractable neonatal seizures, developmental delay, and tooth hypoplasia. SLC13A5 encodes the sodium-dependent citrate transporter (NaCT) on the plasma membrane, expressed in brain and liver. Recent investigations highlighted the relevance of NaCT in citrate uptake, influencing