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Article

Disease-associated GRIN protein truncating variants trigger NMDA receptor loss-of-function.

Human molecular genetics - 25 Feb 2021

Santos-Gómez Ana, Miguez-Cabello Federico, García-Recio Adrián, Locubiche-Serra Sílvia, García-Díaz Roberto, Soto-Insuga Víctor, Guerrero-López Rosa, Juliá-Palacios Natalia, Ciruela Francisco, García-Cazorla Àngels, Soto David, Olivella Mireia, Altafaj Xavier

Abstract excerpt

De novo GRIN variants, encoding for the ionotropic glutamate NMDA receptor subunits, have been recently associated with GRIN-related disorders, a group of rare paediatric encephalopathies. Current investigational and clinical efforts are focused to functionally stratify GRIN variants, towards precision therapies of this primary disturbance of glutamatergic transmission that affects neuronal function and brain. In...

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PMID: 33043365
DOI: 10.1093/hmg/ddaa220

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