[From pathogenesis to treatment of genetic intellectual disabilities: a lesson from Angelman syndrome research].

Abstract excerpt

Angelman syndrome (AS) is characterized by severe intellectual disability, epilepsy and ataxic motor dysfunction. Paternally imprinted UBE3A, which is located in the imprinted domain of 15q11-q13, is the causative gene of AS. UBE3A is exclusively expressed from the maternally inherited allele only in neurons (neuron-specific imprinting), and is regulated by antisense RNA. UBE3A is an E3 ubiquitin protein ligase...

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