Shen W - Search Results

1

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. Tian M, et al. Among authors: shen w. Neurobiol Dis. 2013 Feb;50:135-41. doi: 10.1016/j.nbd.2012.10.008. Epub 2012 Oct 13. Neurobiol Dis. 2013. PMID: 23069679 Free PMC article.

2

Endoplasmic reticulum retention and associated degradation of a GABAA receptor epilepsy mutation that inserts an aspartate in the M3 transmembrane segment of the alpha1 subunit.

Gallagher MJ, Shen W, Song L, Macdonald RL. Gallagher MJ, et al. Among authors: shen w. J Biol Chem. 2005 Nov 11;280(45):37995-8004. doi: 10.1074/jbc.M508305200. Epub 2005 Aug 25. J Biol Chem. 2005. PMID: 16123039 Free article.

3

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. Kang JQ, et al. Among authors: shen w. J Neurosci. 2006 Mar 1;26(9):2590-7. doi: 10.1523/JNEUROSCI.4243-05.2006. J Neurosci. 2006. PMID: 16510738 Free PMC article.

4

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. Kang JQ, et al. Among authors: shen w. J Neurosci. 2009 Mar 4;29(9):2833-44. doi: 10.1523/JNEUROSCI.4512-08.2009. J Neurosci. 2009. PMID: 19261879 Free PMC article.

5

The GABRG2 mutation, Q351X, associated with generalized epilepsy with febrile seizures plus, has both loss of function and dominant-negative suppression.

Kang JQ, Shen W, Macdonald RL. Kang JQ, et al. Among authors: shen w. J Neurosci. 2009 Mar 4;29(9):2845-56. doi: 10.1523/JNEUROSCI.4772-08.2009. J Neurosci. 2009. PMID: 19261880 Free PMC article.

6

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. Kang JQ, et al. Among authors: shen w. J Neurosci. 2010 Oct 13;30(41):13895-905. doi: 10.1523/JNEUROSCI.2320-10.2010. J Neurosci. 2010. PMID: 20943930 Free PMC article.

7

Trafficking-deficient mutant GABRG2 subunit amount may modify epilepsy phenotype.

Kang JQ, Shen W, Macdonald RL. Kang JQ, et al. Among authors: shen w. Ann Neurol. 2013 Oct;74(4):547-59. doi: 10.1002/ana.23947. Epub 2013 Sep 16. Ann Neurol. 2013. PMID: 23720301 Free PMC article.

8

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. Johnston AJ, et al. Among authors: shen w. Neurobiol Dis. 2014 Apr;64:131-141. doi: 10.1016/j.nbd.2013.12.013. Epub 2014 Jan 7. Neurobiol Dis. 2014. PMID: 24407264 Free PMC article.

9

The human epilepsy mutation GABRG2(Q390X) causes chronic subunit accumulation and neurodegeneration.

Kang JQ, Shen W, Zhou C, Xu D, Macdonald RL. Kang JQ, et al. Among authors: shen w. Nat Neurosci. 2015 Jul;18(7):988-96. doi: 10.1038/nn.4024. Epub 2015 May 25. Nat Neurosci. 2015. PMID: 26005849 Free PMC article.

10

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: shen w. 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.

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