POT1a depletion in the developing brain leads to p53-dependent neuronal cell death and ataxia.
Robert She, Charlie Clapp, Eros Lazzerini Denchi
This study shows that POT1a depletion in neural progenitors causes p53-dependent neuronal death and ataxia, while p53 inactivation rescues lethality, highlighting distinct DNA damage response pathways in neurological disorders.
bioRxiv · May 30, 2018 · PreprintMolecular Biology