Detalles de la búsqueda
1.
Correlations of receptor desensitization of gain-of-function GABRB3 variants with clinical severity.
Brain;
147(1): 224-239, 2024 01 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-37647766
2.
GABRA1-Related Disorders: From Genetic to Functional Pathways.
Ann Neurol;
2023 Aug 22.
Artículo
en Inglés
| MEDLINE | ID: mdl-37606373
3.
GABAA receptors in epilepsy: Elucidating phenotypic divergence through functional analysis of genetic variants.
J Neurochem;
2023 Aug 24.
Artículo
en Inglés
| MEDLINE | ID: mdl-37621067
4.
Gain-of-function variants in GABRD reveal a novel pathway for neurodevelopmental disorders and epilepsy.
Brain;
145(4): 1299-1309, 2022 05 24.
Artículo
en Inglés
| MEDLINE | ID: mdl-34633442
5.
Structural mapping of GABRB3 variants reveals genotype-phenotype correlations.
Genet Med;
24(3): 681-693, 2022 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-34906499
6.
Functional genomics of epilepsy-associated mutations in the GABAA receptor subunits reveal that one mutation impairs function and two are catastrophic.
J Biol Chem;
294(15): 6157-6171, 2019 04 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-30728247
7.
Follow the allosteric transitions to predict variant pathogenicity: a channel-specific approach.
Brain;
147(5): e37-e40, 2024 May 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-38198781
8.
Structure-Based Discovery of Dual-Target Hits for Acetylcholinesterase and the α7 Nicotinic Acetylcholine Receptors: In Silico Studies and In Vitro Confirmation.
Molecules;
25(12)2020 Jun 22.
Artículo
en Inglés
| MEDLINE | ID: mdl-32580406
9.
Revisiting autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) mutations in the nicotinic acetylcholine receptor reveal an increase in efficacy regardless of stochiometry.
Pharmacol Res;
139: 215-227, 2019 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-30472464
10.
Novel Approach for the Search for Chemical Scaffolds with Dual Activity with Acetylcholinesterase and the α7 Nicotinic Acetylcholine Receptor-A Perspective for the Treatment of Neurodegenerative Disorders.
Molecules;
24(3)2019 Jan 27.
Artículo
en Inglés
| MEDLINE | ID: mdl-30691196
11.
The de novo GABRA4 p.Thr300Ile variant found in a patient with early-onset intractable epilepsy and neurodevelopmental abnormalities displays gain-of-function traits.
Epilepsia;
63(9): 2439-2441, 2022 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-35781801
12.
A pharmacological assessment of agonists and modulators at α4ß2γ2 and α4ß2δ GABAA receptors: The challenge in comparing apples with oranges.
Pharmacol Res;
111: 563-576, 2016 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-27178730
13.
Acetylcholine-Binding Protein Engineered to Mimic the α4-α4 Binding Pocket in α4ß2 Nicotinic Acetylcholine Receptors Reveals Interface Specific Interactions Important for Binding and Activity.
Mol Pharmacol;
88(4): 697-707, 2015 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-26180047
14.
Structural and functional studies of the modulator NS9283 reveal agonist-like mechanism of action at α4ß2 nicotinic acetylcholine receptors.
J Biol Chem;
289(36): 24911-21, 2014 Sep 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-24982426
15.
Two distinct allosteric binding sites at α4ß2 nicotinic acetylcholine receptors revealed by NS206 and NS9283 give unique insights to binding activity-associated linkage at Cys-loop receptors.
J Biol Chem;
288(50): 35997-6006, 2013 Dec 13.
Artículo
en Inglés
| MEDLINE | ID: mdl-24169695
16.
Molecular determinants of subtype-selective efficacies of cytisine and the novel compound NS3861 at heteromeric nicotinic acetylcholine receptors.
J Biol Chem;
288(4): 2559-70, 2013 Jan 25.
Artículo
en Inglés
| MEDLINE | ID: mdl-23229547
17.
Discovery of a novel allosteric modulator of 5-HT3 receptors: inhibition and potentiation of Cys-loop receptor signaling through a conserved transmembrane intersubunit site.
J Biol Chem;
287(30): 25241-54, 2012 Jul 20.
Artículo
en Inglés
| MEDLINE | ID: mdl-22589534
18.
Intersubunit bridge formation governs agonist efficacy at nicotinic acetylcholine α4ß2 receptors: unique role of halogen bonding revealed.
J Biol Chem;
287(6): 4248-59, 2012 Feb 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-22170047
19.
Vinpocetine improved neuropsychiatric and epileptic outcomes in a patient with a GABRA1 loss-of-function variant.
Ann Clin Transl Neurol;
10(8): 1493-1498, 2023 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-37434477
20.
Unraveling the high- and low-sensitivity agonist responses of nicotinic acetylcholine receptors.
J Neurosci;
31(30): 10759-66, 2011 Jul 27.
Artículo
en Inglés
| MEDLINE | ID: mdl-21795528