Disease-associated missense mutations in GluN2B subunit alter NMDA receptor ligand binding and ion channel properties

Genetic and bioinformatic analyses have identified missense mutations in GRIN2B encoding the NMDA receptor GluN2B subunit in autism, intellectual disability, Lennox Gastaut and West Syndromes. Here, we investigated several such mutations using a near-complete, hybrid 3D model of the human NMDAR and...

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Detalles Bibliográficos
Autores principales: Fedele, Laura, Newcombe, Joseph, Topf, Maya, Gibb, Alasdair, Harvey, Robert J., Smart, Trevor G.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5840332/
https://www.ncbi.nlm.nih.gov/pubmed/29511171
http://dx.doi.org/10.1038/s41467-018-02927-4

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5840332/
https://www.ncbi.nlm.nih.gov/pubmed/29511171
http://dx.doi.org/10.1038/s41467-018-02927-4

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