Robert Macdonald
Last active: 4/6/2017

  1. Altered Channel Conductance States and Gating of GABA Receptors by a Pore Mutation Linked to Dravet Syndrome. Hernandez CC, Kong W, Hu N, Zhang Y, Shen W, Jackson L, Liu X, Jiang Y, Macdonald RL (2017) eNeuro 4(1)
    › Primary publication · 28197552 (PubMed) · PMC5301078 (PubMed Central)
  2. 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 (2014) Neurobiol Dis : 167-79
    › Primary publication · 24798517 (PubMed) · PMC4169075 (PubMed Central)
  3. GABAA receptor biogenesis is impaired by the γ2 subunit febrile seizure-associated mutation, GABRG2(R177G). Todd E, Gurba KN, Botzolakis EJ, Stanic AK, Macdonald RL (2014) Neurobiol Dis : 215-24
    › Primary publication · 24874541 (PubMed)
  4. Co-expression of γ2 subunits hinders processing of N-linked glycans attached to the N104 glycosylation sites of GABAA receptor β2 subunits. Lo WY, Lagrange AH, Hernandez CC, Gurba KN, Macdonald RL (2014) Neurochem Res 39(6): 1088-103
    › Primary publication · 24213971 (PubMed) · PMC4018433 (PubMed Central)
  5. 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 (2014) Neurobiol Dis : 131-141
    › Primary publication · 24407264 (PubMed) · PMC4222744 (PubMed Central)
  6. Trafficking-deficient mutant GABRG2 subunit amount may modify epilepsy phenotype. Kang JQ, Shen W, Macdonald RL (2013) Ann Neurol 74(4): 547-59
    › Primary publication · 23720301 (PubMed) · PMC3839255 (PubMed Central)
  7. 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 (2013) Neurobiol Dis : 135-41
    › Primary publication · 23069679 (PubMed) · PMC3762699 (PubMed Central)
  8. 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 (2012) J Neurosci 32(17): 5937-52
    › Primary publication · 22539854 (PubMed) · PMC3357398 (PubMed Central)
  9. 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 (2012) Neurobiol Dis 48(1): 115-23
    › Primary publication · 22750526 (PubMed) · PMC3762464 (PubMed Central)
  10. mRNA surveillance and endoplasmic reticulum quality control processes alter biogenesis of mutant GABAA receptor subunits associated with genetic epilepsies. Macdonald RL, Kang JQ (2012) Epilepsia : 59-70
    › Primary publication · 23216579 (PubMed) · PMC3762703 (PubMed Central)