Molecular and behavioral consequences of Ube3a gene overdosage in mice

Chromosome 15q11.2–q13.1 duplication syndrome (Dup15q syndrome) is a severe neurodevelopmental disorder characterized by intellectual disability, impaired motor coordination, and autism spectrum disorder. Chromosomal multiplication of the UBE3A gene is presumed to be the primary driver of Dup15q pat...

Descripción completa

Detalles Bibliográficos
Autores principales: Punt, A. Mattijs, Judson, Matthew C., Sidorov, Michael S., Williams, Brittany N., Johnson, Naomi S., Belder, Sabine, den Hertog, Dion, Davis, Courtney R., Feygin, Maximillian S., Lang, Patrick F., Jolfaei, Mehrnoush Aghadavoud, Curran, Patrick J., van IJcken, Wilfred F.J., Elgersma, Ype, Philpot, Benjamin D.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Society for Clinical Investigation 2022
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9675564/
https://www.ncbi.nlm.nih.gov/pubmed/36134658
http://dx.doi.org/10.1172/jci.insight.158953

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9675564/
https://www.ncbi.nlm.nih.gov/pubmed/36134658
http://dx.doi.org/10.1172/jci.insight.158953

Ejemplares similares