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Disease-associated nonsense and frame-shift variants resulting in the truncation of the GluN2A or GluN2B C-terminal domain decrease NMDAR surface expression and reduce potentiating effects of neurosteroids.
Kysilov B, Kuchtiak V, Hrcka Krausova B, Balik A, Korinek M, Fili K, Dobrovolski M, Abramova V, Chodounska H, Kudova E, Bozikova P, Cerny J, Smejkalova T, Vyklicky L. Kysilov B, et al. Cell Mol Life Sci. 2024 Jan 12;81(1):36. doi: 10.1007/s00018-023-05062-6. Cell Mol Life Sci. 2024. PMID: 38214768 Free PMC article.
Pursuing the Complexity of Alzheimer's Disease: Discovery of Fluoren-9-Amines as Selective Butyrylcholinesterase Inhibitors and N-Methyl-d-Aspartate Receptor Antagonists.
Konecny J, Misiachna A, Hrabinova M, Pulkrabkova L, Benkova M, Prchal L, Kucera T, Kobrlova T, Finger V, Kolcheva M, Kortus S, Jun D, Valko M, Horak M, Soukup O, Korabecny J. Konecny J, et al. Biomolecules. 2020 Dec 22;11(1):3. doi: 10.3390/biom11010003. Biomolecules. 2020. PMID: 33375115 Free PMC article.