Laura Baroncelli

Abstract 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 AS are increasingly well characterized, a critical gap remains in understanding how disruptions in neuronal connectivity at the circuit level contribute to its pathophysiology.

Reportage dalla Haskell Free Library e dalle Line Houses lungo la linea di frontiera tra Stati Uniti e Canada. Un piccolo edificio culturale di inizio Novecento, cinque semplici case, comunità divise, una storia di paradossi tra paure, controlli e pregiudizi DERBY LINE (Vermont, Stati Uniti d’America) – STANSTEAD (Québec, Canada). Al confine tra Stati Uniti e Canada, tra Derby Line nel Vermont e Stanstead in Québec, sorge un edificio attraversato dal confine stesso.

Submitted: 02 October 2025 You are already at the latest version Angelman Syndrome (AS) is a neurodevelopmental disorder caused by the deficiency of the UBE3A gene that for a E3 ligase protein part of the ubiquitin-proteasome system (UPS). Autophagy and UPS systems remove abnormal proteins, but any dysfunction in these processes can affect neuronal development and wellbeing.