233 related articles for article (PubMed ID: 22750526)
1. The GABRG2 nonsense mutation, Q40X, associated with Dravet syndrome activated NMD and generated a truncated subunit that was partially rescued by aminoglycoside-induced stop codon read-through.
Huang X; Tian M; Hernandez CC; Hu N; Macdonald RL
Neurobiol Dis; 2012 Oct; 48(1):115-23. PubMed ID: 22750526
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. The intronic GABRG2 mutation, IVS6+2T->G, associated with childhood absence epilepsy altered subunit mRNA intron splicing, activated nonsense-mediated decay, and produced a stable truncated γ2 subunit.
Tian M; Macdonald RL
J Neurosci; 2012 Apr; 32(17):5937-52. PubMed ID: 22539854
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. Differential protein structural disturbances and suppression of assembly partners produced by nonsense GABRG2 epilepsy mutations: implications for disease phenotypic heterogeneity.
Wang J; Shen D; Xia G; Shen W; Macdonald RL; Xu D; Kang JQ
Sci Rep; 2016 Oct; 6():35294. PubMed ID: 27762395
[TBL] [Abstract][Full Text] [Related]
6. Trafficking-deficient mutant GABRG2 subunit amount may modify epilepsy phenotype.
Kang JQ; Shen W; Macdonald RL
Ann Neurol; 2013 Oct; 74(4):547-59. PubMed ID: 23720301
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. Impaired surface αβγ GABA(A) receptor expression in familial epilepsy due to a GABRG2 frameshift mutation.
Tian M; Mei D; Freri E; Hernandez CC; Granata T; Shen W; Macdonald RL; Guerrini R
Neurobiol Dis; 2013 Feb; 50():135-41. PubMed ID: 23069679
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. 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]
11. 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]
12. Two molecular pathways (NMD and ERAD) contribute to a genetic epilepsy associated with the GABA(A) receptor GABRA1 PTC mutation, 975delC, S326fs328X.
Kang JQ; Shen W; Macdonald RL
J Neurosci; 2009 Mar; 29(9):2833-44. PubMed ID: 19261879
[TBL] [Abstract][Full Text] [Related]
13. Altered Channel Conductance States and Gating of GABA
Hernandez CC; Kong W; Hu N; Zhang Y; Shen W; Jackson L; Liu X; Jiang Y; Macdonald RL
eNeuro; 2017; 4(1):. PubMed ID: 28197552
[TBL] [Abstract][Full Text] [Related]
14. [The NMD escape mechanism and its application in disease therapy].
Cheng MM; Cao YY
Yi Chuan; 2020 Apr; 42(4):354-362. PubMed ID: 32312704
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. Slow degradation and aggregation in vitro of mutant GABAA receptor gamma2(Q351X) subunits associated with epilepsy.
Kang JQ; Shen W; Lee M; Gallagher MJ; Macdonald RL
J Neurosci; 2010 Oct; 30(41):13895-905. PubMed ID: 20943930
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. Inhibition of SMG-8, a subunit of SMG-1 kinase, ameliorates nonsense-mediated mRNA decay-exacerbated mutant phenotypes without cytotoxicity.
Usuki F; Yamashita A; Shiraishi T; Shiga A; Onodera O; Higuchi I; Ohno S
Proc Natl Acad Sci U S A; 2013 Sep; 110(37):15037-42. PubMed ID: 23983263
[TBL] [Abstract][Full Text] [Related]
19. Synaptic clustering differences due to different GABRB3 mutations cause variable epilepsy syndromes.
Shi YW; Zhang Q; Cai K; Poliquin S; Shen W; Winters N; Yi YH; Wang J; Hu N; Macdonald RL; Liao WP; Kang JQ
Brain; 2019 Oct; 142(10):3028-3044. PubMed ID: 31435640
[TBL] [Abstract][Full Text] [Related]
20. Readthrough of ACTN3 577X nonsense mutation produces full-length α-actinin-3 protein.
Harada N; Hatakeyama A; Okuyama M; Miyatake Y; Nakagawa T; Kuroda M; Masumoto S; Tsutsumi R; Nakaya Y; Sakaue H
Biochem Biophys Res Commun; 2018 Jul; 502(3):422-428. PubMed ID: 29857001
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
