Morphological and functional characterization of a CDKL5 mutant zebrafish line
Marco Salamanca, Laura Franco, Paola Braghetta, Paolo Bonaldo, Marco Dal Maschio, Nicola Facchinello · FENS Forum 2024
Clinical studies continuously unveil the increase risk of neurodevelopmental disorders in association with specific genetic variants. The impact of these mutations on the signal cascades leading to alterations of the brain functions, is frequently unclear. This is the case for the cdkl5 gene, encoding the Cyclin-Dependent-Kinase-Like-5 enzyme, whose mutations are linked to CDKL deficiency disorder (CDD). This is neurodevelopmental disease characterized by impairment of cognitive and motor skills. Here, we aim to elucidate the pathophysiological mechanisms associated with the lack of Cdkl5, emp
ePoster · Neuroscience