Article
Specific pathogenic mutations in the M3 domain of the GluN1 subunit regulate the surface delivery and pharmacological sensitivity of NMDA receptors.
Neuropharmacology - 15 May 2021
Kolcheva Marharyta, Kortus Stepan, Krausova Barbora Hrcka, Barackova Petra, Misiachna Anna, Danacikova Sarka, Kaniakova Martina, Hemelikova Katarina, Hotovec Matej, Rehakova Kristyna, Horak Martin
Abstract excerpt
N-methyl-d-aspartate receptors (NMDARs) play an essential role in regulating glutamatergic neurotransmission. Recently, pathogenic missense mutations were identified in genes encoding NMDAR subunits; however, their effect on NMDAR activity is often poorly understood. Here, we examined whether three previously identified pathogenic mutations (M641I, A645S, and Y647S) in the M3 domain of the GluN1 subunit affect...
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