Article
Gain-of-function glutamate receptor interacting protein 1 variants alter GluA2 recycling and surface distribution in patients with autism.
Proceedings of the National Academy of Sciences of the United States of America - 22 Mar 2011
Mejias Rebeca, Adamczyk Abby, Anggono Victor, Niranjan Tejasvi, Thomas Gareth M, Sharma Kamal, Skinner Cindy, Schwartz Charles E, Stevenson Roger E, Fallin M Daniele, Kaufmann Walter, Pletnikov Mikhail, Valle David, Huganir Richard L, Wang Tao
Abstract excerpt
Glutamate receptor interacting protein 1 (GRIP1) is a neuronal scaffolding protein that interacts directly with the C termini of glutamate receptors 2/3 (GluA2/3) via its PDZ domains 4 to 6 (PDZ4-6). We found an association (P<0.05) of a SNP within the PDZ4-6 genomic region with autism by genotyping autistic patients (n=480) and matched controls (n=480). Parallel sequencing identified five rare missense variants...
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