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

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...

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Bibliographic Details
Main Authors: Eli J. Rogers, Reem Jada, Kinneret Schragenheim-Rozales, Megha Sah, Marisol Cortes, Matthew Florence, Nina S. Levy, Rachel Moss, Randall S. Walikonis, Raz Palty, Reut Shalgi, Daniela Lichtman, Alexandra Kavushansky, Nashaat Z. Gerges, Itamar Kahn, George K. E. Umanah, Andrew P. Levy
Format: Article
Language:English
Published: Frontiers Media S.A. 2019-02-01
Series:Frontiers in Molecular Neuroscience
Subjects:
IQSEC2
Arf6
GEF
AMPA
calmodulin
IQ domain
Online Access:https://www.frontiersin.org/article/10.3389/fnmol.2019.00043/full

Internet

https://www.frontiersin.org/article/10.3389/fnmol.2019.00043/full

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