Impaired OTUD7A-dependent Ankyrin regulation mediates neuronal dysfunction in mouse and human models of the 15q13.3 microdeletion syndrome

Copy number variations (CNVs) are associated with psychiatric and neurodevelopmental disorders (NDDs), and most, including the recurrent 15q13.3 microdeletion disorder, have unknown disease mechanisms. We used a heterozygous 15q13.3 microdeletion mouse model and patient iPSC-derived neurons to revea...

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Detalles Bibliográficos
Autores principales: Unda, Brianna K., Chalil, Leon, Yoon, Sehyoun, Kilpatrick, Savannah, Irwin, Courtney, Xing, Sansi, Murtaza, Nadeem, Cheng, Anran, Brown, Chad, Afonso, Alexandria, McCready, Elizabeth, Ronen, Gabriel M., Howe, Jennifer, Caye-Eude, Aurélie, Verloes, Alain, Doble, Brad W., Faivre, Laurence, Vitobello, Antonio, Scherer, Stephen W., Lu, Yu, Penzes, Peter, Singh, Karun K.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10208958/
https://www.ncbi.nlm.nih.gov/pubmed/36604605
http://dx.doi.org/10.1038/s41380-022-01937-5

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10208958/
https://www.ncbi.nlm.nih.gov/pubmed/36604605
http://dx.doi.org/10.1038/s41380-022-01937-5

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