An IQSEC2 Mutation Associated With Intellectual Disability and Autism Results in Decreased Surface AMPA Receptors

We have recently described an A350V mutation in IQSEC2 associated with intellectual disability, autism and epilepsy. We sought to understand the molecular pathophysiology of this mutation with the goal of developing targets for drug intervention. We demonstrate here that the A350V mutation results i...

Descripción completa

Detalles Bibliográficos
Autores principales: Rogers, Eli J., Jada, Reem, Schragenheim-Rozales, Kinneret, Sah, Megha, Cortes, Marisol, Florence, Matthew, Levy, Nina S., Moss, Rachel, Walikonis, Randall S., Palty, Raz, Shalgi, Reut, Lichtman, Daniela, Kavushansky, Alexandra, Gerges, Nashaat Z., Kahn, Itamar, Umanah, George K. E., Levy, Andrew P.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2019
Materias:
Neuroscience
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6391579/
https://www.ncbi.nlm.nih.gov/pubmed/30842726
http://dx.doi.org/10.3389/fnmol.2019.00043

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6391579/
https://www.ncbi.nlm.nih.gov/pubmed/30842726
http://dx.doi.org/10.3389/fnmol.2019.00043

Ejemplares similares