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0583244 - FGÚ 2025 RIV CH eng J - Journal Article
Kysilov, Bohdan - Kuchtiak, Viktor - Hrčka Krausová, Barbora - Balík, Aleš - Kořínek, Miloslav - Fili, Klevinda - Dobrovolski, Mark - Abramová, Vera - Chodounská, Hana - Kudová, Eva - Božíková, Paulina - Černý, Jiří - Smejkalová, Tereza - Vyklický ml., Ladislav
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.
Cellular and Molecular Life Sciences. Roč. 81, č. 1 (2024), č. článku 36. ISSN 1420-682X. E-ISSN 1420-9071
R&D Projects: GA ČR(CZ) GA23-04922S; GA TA ČR(CZ) TN02000109; GA MZd(CZ) EF16_025/0007444
Institutional support: RVO:67985823 ; RVO:61388963 ; RVO:86652036
Keywords : glutamate receptors * channelopathy * endogenous neuroactive steroid * GRIN2 genes * surface expression * rescue pharmacology
OECD category: Neurosciences (including psychophysiology
Impact factor: 8, year: 2022
Method of publishing: Open access
https://doi.org/10.1007/s00018-023-05062-6
Permanent Link: https://hdl.handle.net/11104/0351253