Preview. Angelman syndrome: finding the lost arc.
editorial · Level V
Where this comes from
- Record sourced from PubMed, PMID 20211128.
- Also identified by DOI 10.1016/j.cell.2010.02.019.
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Abstract
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.