180 related articles for article (PubMed ID: 38731820)
1. Modulating Endoplasmic Reticulum Chaperones and Mutant Protein Degradation in GABRG2(Q390X) Associated with Genetic Epilepsy with Febrile Seizures Plus and Dravet Syndrome.
Poliquin S; Nwosu G; Randhave K; Shen W; Flamm C; Kang JQ
Int J Mol Sci; 2024 Apr; 25(9):. PubMed ID: 38731820
[TBL] [Abstract][Full Text] [Related]
2. 4-Phenylbutyrate promoted wild-type γ-aminobutyric acid type A receptor trafficking, reduced endoplasmic reticulum stress, and mitigated seizures in Gabrg2
Shen W; Flamm C; Delahanty AJ; Casteel E; Biven M; DeLeeuw MB; Poliquin S; Nwosu G; Randhave K; Kang JQ
Epilepsia; 2024 Jan; 65(1):204-217. PubMed ID: 37746768
[TBL] [Abstract][Full Text] [Related]
3. Overexpressing wild-type γ2 subunits rescued the seizure phenotype in Gabrg2
Huang X; Zhou C; Tian M; Kang JQ; Shen W; Verdier K; Pimenta A; MacDonald RL
Epilepsia; 2017 Aug; 58(8):1451-1461. PubMed ID: 28586508
[TBL] [Abstract][Full Text] [Related]
4. Altered GABAA receptor expression in brainstem nuclei and SUDEP in Gabrg2(+/Q390X) mice associated with epileptic encephalopathy.
Xia G; P Pourali S; Warner TA; Zhang CQ; L Macdonald R; Kang JQ
Epilepsy Res; 2016 Jul; 123():50-4. PubMed ID: 27131289
[TBL] [Abstract][Full Text] [Related]
5. Molecular Pathogenic Basis for GABRG2 Mutations Associated With a Spectrum of Epilepsy Syndromes, From Generalized Absence Epilepsy to Dravet Syndrome.
Kang JQ; Macdonald RL
JAMA Neurol; 2016 Aug; 73(8):1009-16. PubMed ID: 27367160
[TBL] [Abstract][Full Text] [Related]
6. Association of nonsense mutation in GABRG2 with abnormal trafficking of GABAA receptors in severe epilepsy.
Ishii A; Kanaumi T; Sohda M; Misumi Y; Zhang B; Kakinuma N; Haga Y; Watanabe K; Takeda S; Okada M; Ueno S; Kaneko S; Takashima S; Hirose S
Epilepsy Res; 2014 Mar; 108(3):420-32. PubMed ID: 24480790
[TBL] [Abstract][Full Text] [Related]
7. Grp94 Protein Delivers γ-Aminobutyric Acid Type A (GABAA) Receptors to Hrd1 Protein-mediated Endoplasmic Reticulum-associated Degradation.
Di XJ; Wang YJ; Han DY; Fu YL; Duerfeldt AS; Blagg BS; Mu TW
J Biol Chem; 2016 Apr; 291(18):9526-39. PubMed ID: 26945068
[TBL] [Abstract][Full Text] [Related]
8. Heat induced temperature dysregulation and seizures in Dravet Syndrome/GEFS+ Gabrg2
Warner TA; Liu Z; Macdonald RL; Kang JQ
Epilepsy Res; 2017 Aug; 134():1-8. PubMed ID: 28505490
[TBL] [Abstract][Full Text] [Related]
9. gp78 functions downstream of Hrd1 to promote degradation of misfolded proteins of the endoplasmic reticulum.
Zhang T; Xu Y; Liu Y; Ye Y
Mol Biol Cell; 2015 Dec; 26(24):4438-50. PubMed ID: 26424800
[TBL] [Abstract][Full Text] [Related]
10. Three epilepsy-associated GABRG2 missense mutations at the γ+/β- interface disrupt GABAA receptor assembly and trafficking by similar mechanisms but to different extents.
Huang X; Hernandez CC; Hu N; Macdonald RL
Neurobiol Dis; 2014 Aug; 68():167-79. PubMed ID: 24798517
[TBL] [Abstract][Full Text] [Related]
11. A novel GABRG2 mutation, p.R136*, in a family with GEFS+ and extended phenotypes.
Johnston AJ; Kang JQ; Shen W; Pickrell WO; Cushion TD; Davies JS; Baer K; Mullins JGL; Hammond CL; Chung SK; Thomas RH; White C; Smith PEM; Macdonald RL; Rees MI
Neurobiol Dis; 2014 Apr; 64():131-141. PubMed ID: 24407264
[TBL] [Abstract][Full Text] [Related]
12. Endoplasmic reticulum stress increases inflammatory cytokines in an epilepsy mouse model Gabrg2
Shen W; Poliquin S; Macdonald RL; Dong M; Kang JQ
Epilepsia; 2020 Oct; 61(10):2301-2312. PubMed ID: 32944937
[TBL] [Abstract][Full Text] [Related]
13. The therapeutic effect of stiripentol in Gabrg2
Warner TA; Smith NK; Kang JQ
Epilepsy Res; 2019 Aug; 154():8-12. PubMed ID: 31022638
[TBL] [Abstract][Full Text] [Related]
14. USP19-Mediated Deubiquitination Facilitates the Stabilization of HRD1 Ubiquitin Ligase.
Harada K; Kato M; Nakamura N
Int J Mol Sci; 2016 Nov; 17(11):. PubMed ID: 27827840
[TBL] [Abstract][Full Text] [Related]
15.
Hernandez CC; Shen Y; Hu N; Shen W; Narayanan V; Ramsey K; He W; Zou L; Macdonald RL
Biomolecules; 2023 Feb; 13(3):. PubMed ID: 36979350
[TBL] [Abstract][Full Text] [Related]
16. Sleep slow-wave oscillations trigger seizures in a genetic epilepsy model of Dravet syndrome.
Catron MA; Howe RK; Besing GK; St John EK; Potesta CV; Gallagher MJ; Macdonald RL; Zhou C
Brain Commun; 2023; 5(1):fcac332. PubMed ID: 36632186
[TBL] [Abstract][Full Text] [Related]
17. The endoplasmic reticulum (ER)-associated degradation system regulates aggregation and degradation of mutant neuroserpin.
Ying Z; Wang H; Fan H; Wang G
J Biol Chem; 2011 Jun; 286(23):20835-44. PubMed ID: 21507957
[TBL] [Abstract][Full Text] [Related]
18. The GABRG2 mutation, Q351X, associated with generalized epilepsy with febrile seizures plus, has both loss of function and dominant-negative suppression.
Kang JQ; Shen W; Macdonald RL
J Neurosci; 2009 Mar; 29(9):2845-56. PubMed ID: 19261880
[TBL] [Abstract][Full Text] [Related]
19. Proteostasis Regulators Restore Function of Epilepsy-Associated GABA
Di XJ; Wang YJ; Cotter E; Wang M; Whittsette AL; Han DY; Sangwung P; Brown R; Lynch JW; Keramidas A; Mu TW
Cell Chem Biol; 2021 Jan; 28(1):46-59.e7. PubMed ID: 32888501
[TBL] [Abstract][Full Text] [Related]
20. Truncation of the GABA(A)-receptor gamma2 subunit in a family with generalized epilepsy with febrile seizures plus.
Harkin LA; Bowser DN; Dibbens LM; Singh R; Phillips F; Wallace RH; Richards MC; Williams DA; Mulley JC; Berkovic SF; Scheffer IE; Petrou S
Am J Hum Genet; 2002 Feb; 70(2):530-6. PubMed ID: 11748509
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
