BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

381 related articles for article (PubMed ID: 27367160)

  • 1. 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]  

  • 2. 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]  

  • 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. 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]  

  • 5. 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]  

  • 6. 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]  

  • 7. Mutant GABA(A) receptor subunits in genetic (idiopathic) epilepsy.
    Hirose S
    Prog Brain Res; 2014; 213():55-85. PubMed ID: 25194483
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. 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]  

  • 10. 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]  

  • 11. 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]  

  • 12.
    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]  

  • 13. 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]  

  • 14. 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]  

  • 15. Mutations in GABAA receptor subunits associated with genetic epilepsies.
    Macdonald RL; Kang JQ; Gallagher MJ
    J Physiol; 2010 Jun; 588(Pt 11):1861-9. PubMed ID: 20308251
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. Dravet syndrome or genetic (generalized) epilepsy with febrile seizures plus?
    Scheffer IE; Zhang YH; Jansen FE; Dibbens L
    Brain Dev; 2009 May; 31(5):394-400. PubMed ID: 19203856
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. Why does fever trigger febrile seizures? GABAA receptor gamma2 subunit mutations associated with idiopathic generalized epilepsies have temperature-dependent trafficking deficiencies.
    Kang JQ; Shen W; Macdonald RL
    J Neurosci; 2006 Mar; 26(9):2590-7. PubMed ID: 16510738
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 20.