Detalhe da pesquisa
1.
Correlations of receptor desensitization of gain-of-function GABRB3 variants with clinical severity.
Brain
; 147(1): 224-239, 2024 01 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37647766
2.
GABAA receptors in epilepsy: Elucidating phenotypic divergence through functional analysis of genetic variants.
J Neurochem
; 2023 Aug 24.
Artigo
em Inglês
| 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.
Artigo
em Inglês
| 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.
Artigo
em Inglês
| MEDLINE | ID: mdl-38198781
5.
Coadministered cannabidiol and clobazam: Preclinical evidence for both pharmacodynamic and pharmacokinetic interactions.
Epilepsia
; 60(11): 2224-2234, 2019 11.
Artigo
em Inglês
| 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.
Artigo
em Inglês
| MEDLINE | ID: mdl-30472464
7.
Oxytocin prevents ethanol actions at δ subunit-containing GABAA receptors and attenuates ethanol-induced motor impairment in rats.
Proc Natl Acad Sci U S A
; 112(10): 3104-9, 2015 Mar 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-25713389
8.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-35781801
9.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-27178730
10.
α4ßδ GABA(A) receptors are high-affinity targets for γ-hydroxybutyric acid (GHB).
Proc Natl Acad Sci U S A
; 109(33): 13404-9, 2012 Aug 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-22753476
11.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-23893416
12.
Potency of GABA at human recombinant GABA(A) receptors expressed in Xenopus oocytes: a mini review.
Amino Acids
; 44(4): 1139-49, 2013 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-23385381
13.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-35383156
14.
The anticonvulsant zonisamide positively modulates recombinant and native glycine receptors at clinically relevant concentrations.
Neuropharmacology
; 182: 108371, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33122032
15.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-34384142
16.
Conformational changes in extracellular loop 2 associated with signal transduction in the glycine receptor.
J Neurochem
; 115(5): 1245-55, 2010 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-20874766
17.
Ligand-gated ion channels in genetic disorders and the question of efficacy.
Int J Biochem Cell Biol
; 126: 105806, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32679079
18.
Venom-derived modulators of epilepsy-related ion channels.
Biochem Pharmacol
; 181: 114043, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32445870
19.
AE Succinimide, an Analogue of Methyllycaconitine, When Bound Generates a Nonconducting Conformation of the α4ß2 Nicotinic Acetylcholine Receptor.
ACS Chem Neurosci
; 11(3): 344-355, 2020 02 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31898891
20.
Gain-of-function GABRB3 variants identified in vigabatrin-hypersensitive epileptic encephalopathies.
Brain Commun
; 2(2): fcaa162, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-33585817