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.
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
3.
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
4.
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
5.
Coadministered cannabidiol and clobazam: Preclinical evidence for both pharmacodynamic and pharmacokinetic interactions.
Epilepsia;
60(11): 2224-2234, 2019 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-31625159
6.
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
7.
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
8.
Covalent trapping of methyllycaconitine at the α4-α4 interface of the α4ß2 nicotinic acetylcholine receptor: antagonist binding site and mode of receptor inhibition revealed.
J Biol Chem;
288(37): 26521-32, 2013 Sep 13.
Artículo
en Inglés
| MEDLINE | ID: mdl-23893416
9.
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
10.
The anticonvulsant zonisamide positively modulates recombinant and native glycine receptors at clinically relevant concentrations.
Neuropharmacology;
182: 108371, 2021 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-33122032
11.
Cannabigerolic acid, a major biosynthetic precursor molecule in cannabis, exhibits divergent effects on seizures in mouse models of epilepsy.
Br J Pharmacol;
178(24): 4826-4841, 2021 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-34384142
12.
Conformational changes in extracellular loop 2 associated with signal transduction in the glycine receptor.
J Neurochem;
115(5): 1245-55, 2010 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-20874766
13.
Ligand-gated ion channels in genetic disorders and the question of efficacy.
Int J Biochem Cell Biol;
126: 105806, 2020 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-32679079
14.
Gain-of-function GABRB3 variants identified in vigabatrin-hypersensitive epileptic encephalopathies.
Brain Commun;
2(2): fcaa162, 2020.
Artículo
en Inglés
| MEDLINE | ID: mdl-33585817
15.
Pore structure of the Cys-loop ligand-gated ion channels.
Neurochem Res;
34(10): 1805-15, 2009 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-19381804
16.
High and low GABA sensitivity α4ß2δ GABAA receptors are expressed in Xenopus laevis oocytes with divergent stoichiometries.
Biochem Pharmacol;
103: 98-108, 2016 Mar 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-26774457
17.
Ligand Binding at the 4-4 Agonist-Binding Site of the 42 nAChR Triggers Receptor Activation through a Pre-Activated Conformational State.
PLoS One;
11(8): e0161154, 2016.
Artículo
en Inglés
| MEDLINE | ID: mdl-27552221
18.
Kavain, the Major Constituent of the Anxiolytic Kava Extract, Potentiates GABAA Receptors: Functional Characteristics and Molecular Mechanism.
PLoS One;
11(6): e0157700, 2016.
Artículo
en Inglés
| MEDLINE | ID: mdl-27332705
19.
The Direct Actions of GABA, 2'-Methoxy-6-Methylflavone and General Anaesthetics at ß3γ2L GABAA Receptors: Evidence for Receptors with Different Subunit Stoichiometries.
PLoS One;
10(10): e0141359, 2015.
Artículo
en Inglés
| MEDLINE | ID: mdl-26496640
20.
Presence of multiple binding sites on α9α10 nAChR receptors alludes to stoichiometric-dependent action of the α-conotoxin, Vc1.1.
Biochem Pharmacol;
89(1): 131-40, 2014 May 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-24548457