Article
The pathogenic S688Y mutation in the ligand-binding domain of the GluN1 subunit regulates the properties of NMDA receptors.
Scientific reports - 29 Oct 2020
Skrenkova Kristyna, Song Jae-Man, Kortus Stepan, Kolcheva Marharyta, Netolicky Jakub, Hemelikova Katarina, Kaniakova Martina, Krausova Barbora Hrcka, Kucera Tomas, Korabecny Jan, Suh Young Ho, Horak Martin
Abstract excerpt
Although numerous pathogenic mutations have been identified in various subunits of N-methyl-D-aspartate receptors (NMDARs), ionotropic glutamate receptors that are central to glutamatergic neurotransmission, the functional effects of these mutations are often unknown. Here, we combined in silico modelling with microscopy, biochemistry, and electrophysiology in cultured HEK293 cells and hippocampal neurons to...
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