The gain-of-function UBE3A Q588E variant causes Angelman-like neurodevelopmental phenotypes in mice

The gain-of-function UBE3A Q588E variant causes Angelman-like neurodevelopmental phenotypes in mice

Abstract Mutations in the E3 ubiquitin ligase UBE3A that cause enzymatic gain-of-function result in disease phenotypes which differ from classic Angelman syndrome. However, these phenotypes are highly heterogeneous raising questions about the mechanistic basis of such phenotypic diversity. Here, we...

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Main Authors: Kellan P. Weston, Anna M. Gunelson, Susan E. Maloney, Xia Ge, Jalin A. Stelzer, Kwang-Soo Kim, Shylyn Collier, Marissa M. Mindt, Megan J. Agajanian, Michael B. Major, Dennis Goldfarb, Kevin K. Noguchi, Jason J. Yi
Format: Article
Language:English
Published: Nature Portfolio 2025-03-01
Series:Scientific Reports
Online Access:https://doi.org/10.1038/s41598-025-92511-w
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https://doi.org/10.1038/s41598-025-92511-w

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