Macdonald RL - Search Results

1

Hyperglycosylation and reduced GABA currents of mutated GABRB3 polypeptide in remitting childhood absence epilepsy.

Tanaka M, Olsen RW, Medina MT, Schwartz E, Alonso ME, Duron RM, Castro-Ortega R, Martinez-Juarez IE, Pascual-Castroviejo I, Machado-Salas J, Silva R, Bailey JN, Bai D, Ochoa A, Jara-Prado A, Pineda G, Macdonald RL, Delgado-Escueta AV. Tanaka M, et al. Among authors: macdonald rl. Am J Hum Genet. 2008 Jun;82(6):1249-61. doi: 10.1016/j.ajhg.2008.04.020. Am J Hum Genet. 2008. PMID: 18514161 Free PMC article.

2

GABAA receptor channels.

Macdonald RL, Olsen RW. Macdonald RL, et al. Annu Rev Neurosci. 1994;17:569-602. doi: 10.1146/annurev.ne.17.030194.003033. Annu Rev Neurosci. 1994. PMID: 7516126 Review. No abstract available.

3

Functional characterization of the new human GABA(A) receptor mutation beta3(R192H).

Buhr A, Bianchi MT, Baur R, Courtet P, Pignay V, Boulenger JP, Gallati S, Hinkle DJ, Macdonald RL, Sigel E. Buhr A, et al. Among authors: macdonald rl. Hum Genet. 2002 Aug;111(2):154-60. doi: 10.1007/s00439-002-0766-7. Epub 2002 Jul 16. Hum Genet. 2002. PMID: 12189488 Free article.

4

Differential molecular and behavioural alterations in mouse models of GABRG2 haploinsufficiency versus dominant negative mutations associated with human epilepsy.

Warner TA, Shen W, Huang X, Liu Z, Macdonald RL, Kang JQ. Warner TA, et al. Among authors: macdonald rl. Hum Mol Genet. 2016 Aug 1;25(15):3192-3207. doi: 10.1093/hmg/ddw168. Epub 2016 Jun 23. Hum Mol Genet. 2016. PMID: 27340224 Free PMC article.

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. Kang JQ, et al. Among authors: macdonald rl. JAMA Neurol. 2016 Aug 1;73(8):1009-16. doi: 10.1001/jamaneurol.2016.0449. JAMA Neurol. 2016. PMID: 27367160 Free PMC article. Review.

6

Maternal transmission of a rare GABRB3 signal peptide variant is associated with autism.

Delahanty RJ, Kang JQ, Brune CW, Kistner EO, Courchesne E, Cox NJ, Cook EH Jr, Macdonald RL, Sutcliffe JS. Delahanty RJ, et al. Among authors: macdonald rl. Mol Psychiatry. 2011 Jan;16(1):86-96. doi: 10.1038/mp.2009.118. Epub 2009 Nov 24. Mol Psychiatry. 2011. PMID: 19935738 Free PMC article.

7

GABA(A) receptor epilepsy mutations.

Macdonald RL, Gallagher MJ, Feng HJ, Kang J. Macdonald RL, et al. Biochem Pharmacol. 2004 Oct 15;68(8):1497-506. doi: 10.1016/j.bcp.2004.07.029. Biochem Pharmacol. 2004. PMID: 15451392 Review.

8

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. Gurba KN, et al. Among authors: macdonald rl. J Biol Chem. 2012 Apr 6;287(15):12083-97. doi: 10.1074/jbc.M111.332528. Epub 2012 Feb 2. J Biol Chem. 2012. PMID: 22303015 Free PMC article.

9

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. Todd E, et al. Among authors: macdonald rl. Neurobiol Dis. 2014 Sep;69:215-24. doi: 10.1016/j.nbd.2014.05.013. Epub 2014 May 27. Neurobiol Dis. 2014. PMID: 24874541

10

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. Shi YW, et al. Among authors: macdonald rl. Brain. 2019 Oct 1;142(10):3028-3044. doi: 10.1093/brain/awz250. Brain. 2019. PMID: 31435640 Free PMC article.

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