Topic: neurodifferentiation

We identified a clinical patient with a biallelic mutation in CETN3 exhibiting symptoms akin to microcephaly. This discovery prompted our investigation into the role of CETN3 in neurodevelopment. To delve deeper, we established a CETN3-KO H9 cell line and cultivated cerebral organoids using it. Mirroring the patient's phenotype, our cerebral organoids exhibited smaller sizes compared to the control group. Through immunofluorescence analysis, we observed that CETN3 deficiency interfered with neurodifferentiation and diminished the proliferation of neural stem cells. Additionally, our findings i

Neurodevelopmental disorders (NDDs) are often associated with mutations in mitotic genes rather than in genes specifying neuronal functions. Several mitotic regulators are functionally repurposed to new roles during neurodifferentiation. CENP-F, a kinetochore- and microtubule-interacting protein with well-characterised mitotic functions, is being growingly identified for harbouring mutations in primary microcephaly and in the Strømme syndrome, an NDD classified as a ciliopathy. The mechanism through which mutant CENP-F contributes to these NDDs remains elusive.To gain insight into the implicat