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Gain-of-function glutamate receptor interacting protein 1 variants alter GluA2 recycling and surface distribution in patients with autism

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 genot...

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Detalhes bibliográficos
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: National Academy of Sciences 2011
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3064362/
https://ncbi.nlm.nih.gov/pubmed/21383172
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.1102233108
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