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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...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Nature Publishing Group UK
2018
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| Materias: | |
| 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 |