Cell Type-Specific Contributions of UBE3A to Angelman Syndrome Behavioral Phenotypes.

ABSTRACT: Angelman syndrome (AS) is a rare neurodevelopmental disorder caused by loss of expression of the maternal UBE3A allele and is characterized by a constellation of impactful neurologic symptoms. While previous work has uncovered outsized contributions of GABAergic neuron-selective Ube3a deletion to seizure susceptibility and electroencephalography (EEG) phenotypes in a mouse model of AS, the neuronal populations governing a broader range of behaviors have not been studied. Here, we used male and female mice to test the consequences of Ube3a deletion from GABAergic or glutamatergic neurons across a well-characterized battery of AS-relevant behaviors. Surprisingly, we observed deficits in numerous motor and innate behaviors in mice with glutamatergic Ube3a deletion

SUBMITTER: Ringelberg NW 

PROVIDER: S-EPMC12479163 | biostudies-literature | 2025 Sep

REPOSITORIES: biostudies-literature