Detalhe da pesquisa
1.
4-Phenylbutyrate promoted wild-type γ-aminobutyric acid type A receptor trafficking, reduced endoplasmic reticulum stress, and mitigated seizures in Gabrg2+/Q390X mice associated with Dravet syndrome.
Epilepsia
; 65(1): 204-217, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37746768
2.
SLC6A1 variant pathogenicity, molecular function and phenotype: a genetic and clinical analysis.
Brain
; 146(12): 5198-5208, 2023 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37647852
3.
Modulating Endoplasmic Reticulum Chaperones and Mutant Protein Degradation in GABRG2(Q390X) Associated with Genetic Epilepsy with Febrile Seizures Plus and Dravet Syndrome.
Int J Mol Sci
; 25(9)2024 Apr 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-38731820
4.
Heterozygous GABAA receptor ß3 subunit N110D knock-in mice have epileptic spasms.
Epilepsia
; 64(4): 1061-1073, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36495145
5.
GABAA Receptor ß3 Subunit Mutation N328D Heterozygous Knock-in Mice Have Lennox-Gastaut Syndrome.
Int J Mol Sci
; 24(9)2023 May 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37176165
6.
Astrocytic GABA transporter 1 deficit in novel SLC6A1 variants mediated epilepsy: Connected from protein destabilization to seizures in mice and humans.
Neurobiol Dis
; 172: 105810, 2022 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35840120
7.
Common molecular mechanisms of SLC6A1 variant-mediated neurodevelopmental disorders in astrocytes and neurons.
Brain
; 144(8): 2499-2512, 2021 09 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34028503
8.
Variable Expression of GABAA Receptor Subunit Gamma 2 Mutation in a Nuclear Family Displaying Developmental and Encephalopathic Phenotype.
Int J Mol Sci
; 23(17)2022 Aug 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-36077081
9.
Epileptic Mechanisms Shared by Alzheimer's Disease: Viewed via the Unique Lens of Genetic Epilepsy.
Int J Mol Sci
; 22(13)2021 Jul 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34281185
10.
Endoplasmic reticulum stress increases inflammatory cytokines in an epilepsy mouse model Gabrg2+/Q390X knockin: A link between genetic and acquired epilepsy?
Epilepsia
; 61(10): 2301-2312, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32944937
11.
Synaptic clustering differences due to different GABRB3 mutations cause variable epilepsy syndromes.
Brain
; 142(10): 3028-3044, 2019 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31435640
12.
Molecular basis for and chemogenetic modulation of comorbidities in GABRG2-deficient epilepsies.
Epilepsia
; 60(6): 1137-1149, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31087664
13.
Differential molecular and behavioural alterations in mouse models of GABRG2 haploinsufficiency versus dominant negative mutations associated with human epilepsy.
Hum Mol Genet
; 25(15): 3192-3207, 2016 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27340224
14.
A de novo missense mutation of GABRB2 causes early myoclonic encephalopathy.
J Med Genet
; 54(3): 202-211, 2017 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-27789573
15.
Overexpressing wild-type γ2 subunits rescued the seizure phenotype in Gabrg2+/Q390X Dravet syndrome mice.
Epilepsia
; 58(8): 1451-1461, 2017 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-28586508
16.
Exploring Human Diseases and Biological Mechanisms by Protein Structure Prediction and Modeling.
Adv Exp Med Biol
; 939: 39-61, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27807743
17.
A novel GABRG2 mutation, p.R136*, in a family with GEFS+ and extended phenotypes.
Neurobiol Dis
; 64: 131-141, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24407264
18.
Trafficking-deficient mutant GABRG2 subunit amount may modify epilepsy phenotype.
Ann Neurol
; 74(4): 547-59, 2013 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-23720301
19.
γ-Aminobutyric acid transporter and GABAA receptor mechanisms in Slc6a1+/A288V and Slc6a1+/S295L mice associated with developmental and epileptic encephalopathies.
Brain Commun
; 6(2): fcae110, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38650830
20.
Epilepsy plus blindness in microdeletion of GABRA1 and GABRG2 in mouse and human.
Exp Neurol
; 369: 114537, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37703949