Detalhe da pesquisa
1.
Structural insights into assembly and function of GluN1-2C, GluN1-2A-2C, and GluN1-2D NMDARs.
Mol Cell
; 82(23): 4548-4563.e4, 2022 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36309015
2.
Clinical features, functional consequences, and rescue pharmacology of missense GRID1 and GRID2 human variants.
Hum Mol Genet
; 33(4): 355-373, 2024 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37944084
3.
Classification of missense variants in the N-methyl-d-aspartate receptor GRIN gene family as gain- or loss-of-function.
Hum Mol Genet
; 32(19): 2857-2871, 2023 09 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-37369021
4.
De novo GRIN variants in M3 helix associated with neurological disorders control channel gating of NMDA receptor.
Cell Mol Life Sci
; 81(1): 153, 2024 Mar 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-38538865
5.
Early expression of GluN2A-containing NMDA receptors in a model of fragile X syndrome.
J Neurophysiol
; 131(4): 768-777, 2024 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38380828
6.
Three-dimensional missense tolerance ratio analysis.
Genome Res
; 31(8): 1447-1461, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34301626
7.
Conserved patterns across ion channels correlate with variant pathogenicity and clinical phenotypes.
Brain
; 146(3): 923-934, 2023 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36036558
8.
Novel neuroactive steroids as positive allosteric modulators of NMDA receptors: mechanism, site of action, and rescue pharmacology on GRIN variants associated with neurological conditions.
Cell Mol Life Sci
; 80(2): 42, 2023 Jan 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-36645496
9.
Functional effects of disease-associated variants reveal that the S1-M1 linker of the NMDA receptor critically controls channel opening.
Cell Mol Life Sci
; 80(4): 110, 2023 Mar 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-37000222
10.
Clinical and functional consequences of GRIA variants in patients with neurological diseases.
Cell Mol Life Sci
; 80(11): 345, 2023 Nov 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37921875
11.
Overlapping cortical malformations in patients with pathogenic variants in GRIN1 and GRIN2B.
J Med Genet
; 60(2): 183-192, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-35393335
12.
Structure, Function, and Pharmacology of Glutamate Receptor Ion Channels.
Pharmacol Rev
; 73(4): 298-487, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34753794
13.
Functional Assessment of Cancer-Linked Mutations in Sensitive Regions of Regulators of G Protein Signaling Predicted by Three-Dimensional Missense Tolerance Ratio Analysis.
Mol Pharmacol
; 103(1): 21-37, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36384958
14.
GPR37L1 controls maturation and organization of cortical astrocytes during development.
Glia
; 71(8): 1921-1946, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37029775
15.
Differential responses of disease-related GRIN variants located in pore-forming M2 domain of N-methyl-D-aspartate receptor to FDA-approved inhibitors.
J Neurochem
; 2023 Aug 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-37649269
16.
The genetics of neuropsychiatric diseases: looking in and beyond the exome.
Annu Rev Neurosci
; 38: 47-68, 2015 Jul 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-25840007
17.
De novo CLPTM1 variants with reduced GABAA R current response in patients with epilepsy.
Epilepsia
; 64(11): 2968-2981, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37577761
18.
Opportunities for Precision Treatment of GRIN2A and GRIN2B Gain-of-Function Variants in Triheteromeric N-Methyl-D-Aspartate Receptors.
J Pharmacol Exp Ther
; 381(1): 54-66, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35110392
19.
Biased modulators of NMDA receptors control channel opening and ion selectivity.
Nat Chem Biol
; 16(2): 188-196, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31959964
20.
Compound-heterozygous GRIN2A null variants associated with severe developmental and epileptic encephalopathy.
Epilepsia
; 63(10): e132-e137, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35983985