Ilaria Tonazzini

Cortical dynamics in Angelman syndrome: novel insights from a preclinical mouse model

Angelman syndrome (AS) is a neurogenetic disorder caused by the loss of function in the maternally inherited UBE3A gene, leading to a spectrum of symptoms that include developmental delays, intellectual disability, and motor impairments. While genetic and molecular mechanisms of...

Phenotyping iPSC-derived neurons from Angelman patients and partial rescue via JNK pathway inactivation

Angelman Syndrome (AS, MIM #105,830) is a rare neurodevelopmental disorder caused by imprinting defects, and it is marked by motor impairment, intellectual disability, speech limitations, and seizures. The condition arises due to the loss of function in neurons of the maternally-...