Article
Autism-linked UBE3A gain-of-function mutation causes interneuron and behavioral phenotypes when inherited maternally or paternally in mice.
Cell reports - 25 Jul 2023
Xing Lei, Simon Jeremy M, Ptacek Travis S, Yi Jason J, Loo Lipin, Mao Hanqian, Wolter Justin M, McCoy Eric S, Paranjape Smita R, Taylor-Blake Bonnie, Zylka Mark J
Abstract excerpt
The E3 ubiquitin ligase Ube3a is biallelically expressed in neural progenitors and glial cells, suggesting that UBE3A gain-of-function mutations might cause neurodevelopmental disorders irrespective of parent of origin. Here, we engineered a mouse line that harbors an autism-linked UBE3AT485A (T503A in mouse) gain-of-function mutation and evaluated phenotypes in animals that inherited the mutant allele...
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