Preview. Angelman syndrome: finding the lost arc

Hwan-Ching Tai, Erin M Schuman


Angelman syndrome is a neurodevelopmental disorder caused by mutations in the maternally inherited UBE3A gene, which encodes a ubiquitin ligase. Greer et al. (2010) now identify a UBE3A substrate called Arc that promotes endocytosis of neuronal AMPA receptors, providing insight into synaptic defects that may underlie the cognitive deficits in Angelman syndrome.


Oct 29, 2010·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Charles A Williams

Related Concepts

AMPA Receptors
Ubiquitin-protein ligase
Angelman Syndrome
Impaired Cognition
UBE3A gene
Neurodevelopmental Disorders
SNHG14 gene

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