Robert Macdonald
Last active: 4/6/2017

Profile

Transcription, translation, folding, assembly, trafficking and pharmacological and electrophysiological properties of recombinant/native GABAA receptor channels and of mutant GABAA receptor channels associated with genetic epilepsy syndromes in transfected HEK293T cells and in transgenic mice.

Publications

The following timeline graph is generated from all co-authored publications.

Featured publications are shown below:

  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. 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)
  3. 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)
  4. 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)
  5. 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)
  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. 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)
  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 (2013) Neurobiol Dis : 135-41
    › Primary publication · 23069679 (PubMed) · PMC3762699 (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. 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)
  11. GABRB3 mutation, G32R, associated with childhood absence epilepsy alters α1β3γ2L γ-aminobutyric acid type A (GABAA) receptor expression and channel gating. Gurba KN, Hernandez CC, Hu N, Macdonald RL (2012) J Biol Chem 287(15): 12083-97
    › Primary publication · 22303015 (PubMed) · PMC3320954 (PubMed Central)
  12. The GABRA6 mutation, R46W, associated with childhood absence epilepsy, alters 6β22 and 6β2 GABA(A) receptor channel gating and expression. Hernandez CC, Gurba KN, Hu N, Macdonald RL (2011) J Physiol 589(Pt 23): 5857-78
    › Primary publication · 21930603 (PubMed) · PMC3249055 (PubMed Central)
  13. 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 (2010) J Neurosci 30(41): 13895-905
    › Primary publication · 20943930 (PubMed) · PMC2976503 (PubMed Central)
  14. Glycosylation of {beta}2 subunits regulates GABAA receptor biogenesis and channel gating. Lo WY, Lagrange AH, Hernandez CC, Harrison R, Dell A, Haslam SM, Sheehan JH, Macdonald RL (2010) J Biol Chem 285(41): 31348-61
    › Primary publication · 20639197 (PubMed) · PMC2951209 (PubMed Central)
  15. Barbiturates require the N terminus and first transmembrane domain of the delta subunit for enhancement of alpha1beta3delta GABAA receptor currents. Feng HJ, Macdonald RL (2010) J Biol Chem 285(31): 23614-21
    › Primary publication · 20525684 (PubMed) · PMC2911329 (PubMed Central)
  16. Mutations in GABAA receptor subunits associated with genetic epilepsies. Macdonald RL, Kang JQ, Gallagher MJ (2010) J Physiol 588(Pt 11): 1861-9
    › Primary publication · 20308251 (PubMed) · PMC2901974 (PubMed Central)