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PX-RICS-deficient mice mimic autism spectrum disorder in Jacobsen syndrome through impaired GABA(A) receptor trafficking

Jacobsen syndrome (JBS) is a rare congenital disorder caused by a terminal deletion of the long arm of chromosome 11. A subset of patients exhibit social behavioural problems that meet the diagnostic criteria for autism spectrum disorder (ASD); however, the underlying molecular pathogenesis remains...

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Detalles Bibliográficos
Autores principales: Nakamura, Tsutomu, Arima-Yoshida, Fumiko, Sakaue, Fumika, Nasu-Nishimura, Yukiko, Takeda, Yasuko, Matsuura, Ken, Akshoomoff, Natacha, Mattson, Sarah N., Grossfeld, Paul D., Manabe, Toshiya, Akiyama, Tetsu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4799364/
https://www.ncbi.nlm.nih.gov/pubmed/26979507
http://dx.doi.org/10.1038/ncomms10861