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.
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
19.
De novo SCN3A missense variant associated with self-limiting generalized epilepsy with fever sensitivity.
Eur J Med Genet
; 65(10): 104577, 2022 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-35918039
20.
Gain-of-function and loss-of-function GABRB3 variants lead to distinct clinical phenotypes in patients with developmental and epileptic encephalopathies.
Nat Commun
; 13(1): 1822, 2022 04 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-35383156