What it is
In this study, 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. We find that ASNS protein abundance is increased in the brains of Ube3a-null mice and in human neurons6.
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Filed underGenetics and Neurodevelopmental Disorders, Genetic Syndromes and Imprinting, Ubiquitin and proteasome pathways