Nature· Kwang-Soo Kim·· 19 hours agoPickScore68
Persistent neuronal stress signalling underlies Angelman syndrome phenotypes
In brief
Genetic and proteomic analyses of human neurons and mouse models published in Nature show that loss of UBE3A leads to excess asparagine synthetase, which is linked to multiple Angelman syndrome phenotypes. The study connects this mechanistic chain to persistent neuronal stress signalling. DOI: 10.1038/s41586-026-11165-4; https://www.nature.com/articles/s41586-026-11165-4.
Why it matters
The study links UBE3A loss, asparagine synthetase excess and Angelman syndrome phenotypes in one mechanism using human neurons and mouse models.
Source: Nature