Autism-linked UBE3A gain-of-function mutation causes interneuron and behavioral phenotypes when inherited maternally or paternally in mice

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 UBE3A(T485A) (T50...

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Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10530456/
https://www.ncbi.nlm.nih.gov/pubmed/37389991
http://dx.doi.org/10.1016/j.celrep.2023.112706

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10530456/
https://www.ncbi.nlm.nih.gov/pubmed/37389991
http://dx.doi.org/10.1016/j.celrep.2023.112706

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