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Jalin A. Stelzer on Muck Rack

Jalin A. Stelzer

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Articles

Persistent neuronal stress signalling underlies Angelman syndrome phenotypes

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By Kwang-Soo Kim, Cory Gardner, Kevin Cho, Ashish Sharma, Mati T Nemera, Travis Law, Huma Naz, Guoyan Zhao, Harrison Gabel, Gary J. Patti, Erik S. Musiek, Tae-Hyuk Ahn, Jason J. Yi, Alissa Cullen, Jalin A. Stelzer
| Nature Verified
Abstract Angelman syndrome is a severe neurodevelopmental disorder caused by the loss of UBE3A, a gene that encodes an E3 ubiquitin ligase1,2. The mechanisms that underlie Angelman syndrome are not well understood, and in particular, the link between UBE3A substrates and disease phenotypes remains uncertain3. Here, using gain- and loss-of-function mutations in UBE3A4,5 along with unbiased proteomics, we show that asparagine synthetase (ASNS) is a target of UBE3A.
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