I. Tonazzini

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-inherited UBE3A gene, mapping in the imp...