The role of UBE3A in the autism and epilepsy-related Dup15q syndrome using patient-derived, CRISPR-corrected neurons

Chromosome 15q11-q13 duplication syndrome (Dup15q) is a neurodevelopmental disorder caused by maternal duplications of this region. Autism and epilepsy are key features of Dup15q. UBE3A, which encodes an E3 ubiquitin ligase, is likely a major driver of Dup15q because UBE3A is the only imprinted gene...

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Detalles Bibliográficos
Autores principales: Elamin, Marwa, Dumarchey, Aurelie, Stoddard, Christopher, Robinson, Tiwanna M., Cowie, Christopher, Gorka, Dea, Chamberlain, Stormy J., Levine, Eric S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10147551/
https://www.ncbi.nlm.nih.gov/pubmed/36898382
http://dx.doi.org/10.1016/j.stemcr.2023.02.002

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10147551/
https://www.ncbi.nlm.nih.gov/pubmed/36898382
http://dx.doi.org/10.1016/j.stemcr.2023.02.002

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