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Deleting a UBE3A substrate rescues impaired hippocampal physiology and learning in Angelman syndrome mice

In humans, loss-of-function mutations in the UBE3A gene lead to the neurodevelopmental disorder Angelman syndrome (AS). AS patients have severe impairments in speech, learning and memory, and motor coordination, for which there is currently no treatment. In addition, UBE3A is duplicated in > 1–2%...

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Detalles Bibliográficos
Autores principales: Sell, Gabrielle L., Xin, Wendy, Cook, Emily K., Zbinden, Mark A., Schaffer, Thomas B., O’Meally, Robert N., Cole, Robert N., Margolis, Seth S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8484563/
https://www.ncbi.nlm.nih.gov/pubmed/34593829
http://dx.doi.org/10.1038/s41598-021-97898-w