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Results: 1 to 20 of 100

1.

Transient neuromotor phenotype in transgenic spastic mice expressing low levels of glycine receptor beta-subunit: an animal model of startle disease.

Becker L, Hartenstein B, Schenkel J, Kuhse J, Betz H, Weiher H.

Eur J Neurosci. 2000 Jan;12(1):27-32.

PMID:
10651857
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

Disease-specific human glycine receptor alpha1 subunit causes hyperekplexia phenotype and impaired glycine- and GABA(A)-receptor transmission in transgenic mice.

Becker L, von Wegerer J, Schenkel J, Zeilhofer HU, Swandulla D, Weiher H.

J Neurosci. 2002 Apr 1;22(7):2505-12.

PMID:
11923415
[PubMed - indexed for MEDLINE]
Free Article
3.

Low level expression of glycine receptor beta subunit transgene is sufficient for phenotype correction in spastic mice.

Hartenstein B, Schenkel J, Kuhse J, Besenbeck B, Kling C, Becker CM, Betz H, Weiher H.

EMBO J. 1996 Mar 15;15(6):1275-82.

PMID:
8635460
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

Propofol restores the function of "hyperekplexic" mutant glycine receptors in Xenopus oocytes and mice.

O'Shea SM, Becker L, Weiher H, Betz H, Laube B.

J Neurosci. 2004 Mar 3;24(9):2322-7.

PMID:
14999083
[PubMed - indexed for MEDLINE]
Free Article
5.

Hyperekplexia phenotype of glycine receptor alpha1 subunit mutant mice identifies Zn(2+) as an essential endogenous modulator of glycinergic neurotransmission.

Hirzel K, Müller U, Latal AT, Hülsmann S, Grudzinska J, Seeliger MW, Betz H, Laube B.

Neuron. 2006 Nov 22;52(4):679-90.

PMID:
17114051
[PubMed - indexed for MEDLINE]
Free Article
6.

Glycine receptor knock-in mice and hyperekplexia-like phenotypes: comparisons with the null mutant.

Findlay GS, Phelan R, Roberts MT, Homanics GE, Bergeson SE, Lopreato GF, Mihic SJ, Blednov YA, Harris RA.

J Neurosci. 2003 Sep 3;23(22):8051-9.

PMID:
12954867
[PubMed - indexed for MEDLINE]
Free Article
7.

Male transgenic glycine receptor alpha1 (S267Q) mutant mice display a hyperekplexia-like increase in acoustic startle responses.

Findlay GS, Harris RA, Blednov YA.

Pharmacol Biochem Behav. 2005 Sep;82(1):215-22.

PMID:
16168470
[PubMed - indexed for MEDLINE]
8.

Functional recovery of glycine receptors in spastic murine model of startle disease.

Molon A, Di Giovanni S, Hathout Y, Natale J, Hoffman EP.

Neurobiol Dis. 2006 Feb;21(2):291-304. Epub 2005 Sep 22.

PMID:
16182553
[PubMed - indexed for MEDLINE]
9.

Increased startle responses in mice carrying mutations of glycine receptor subunit genes.

Koch M, Kling C, Becker CM.

Neuroreport. 1996 Feb 29;7(3):806-8.

PMID:
8733750
[PubMed - indexed for MEDLINE]
10.

The human glycine receptor beta subunit: primary structure, functional characterisation and chromosomal localisation of the human and murine genes.

Handford CA, Lynch JW, Baker E, Webb GC, Ford JH, Sutherland GR, Schofield PR.

Brain Res Mol Brain Res. 1996 Jan;35(1-2):211-9.

PMID:
8717357
[PubMed - indexed for MEDLINE]
11.

Distinct phenotypes in zebrafish models of human startle disease.

Ganser LR, Yan Q, James VM, Kozol R, Topf M, Harvey RJ, Dallman JE.

Neurobiol Dis. 2013 Dec;60:139-51. doi: 10.1016/j.nbd.2013.09.002. Epub 2013 Sep 9.

PMID:
24029548
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Isoform heterogeneity of the human gephyrin gene (GPHN), binding domains to the glycine receptor, and mutation analysis in hyperekplexia.

Rees MI, Harvey K, Ward H, White JH, Evans L, Duguid IC, Hsu CC, Coleman SL, Miller J, Baer K, Waldvogel HJ, Gibbon F, Smart TG, Owen MJ, Harvey RJ, Snell RG.

J Biol Chem. 2003 Jul 4;278(27):24688-96. Epub 2003 Apr 8.

PMID:
12684523
[PubMed - indexed for MEDLINE]
Free Article
13.

Functional characterization of compound heterozygosity for GlyRalpha1 mutations in the startle disease hyperekplexia.

Rea R, Tijssen MA, Herd C, Frants RR, Kullmann DM.

Eur J Neurosci. 2002 Jul;16(2):186-96.

PMID:
12169101
[PubMed - indexed for MEDLINE]
14.

Novel missense mutations in the glycine receptor β subunit gene (GLRB) in startle disease.

James VM, Bode A, Chung SK, Gill JL, Nielsen M, Cowan FM, Vujic M, Thomas RH, Rees MI, Harvey K, Keramidas A, Topf M, Ginjaar I, Lynch JW, Harvey RJ.

Neurobiol Dis. 2013 Apr;52:137-49. doi: 10.1016/j.nbd.2012.12.001. Epub 2012 Dec 10.

PMID:
23238346
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

β Subunit M2-M3 loop conformational changes are uncoupled from α1 β glycine receptor channel gating: implications for human hereditary hyperekplexia.

Shan Q, Han L, Lynch JW.

PLoS One. 2011;6(11):e28105. doi: 10.1371/journal.pone.0028105. Epub 2011 Nov 22.

PMID:
22132222
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

Despite GABAergic neurotransmission, GABAergic innervation does not compensate for the defect in glycine receptor postsynaptic aggregation in spastic mice.

Muller E, Le Corronc H, Scain AL, Triller A, Legendre P.

Eur J Neurosci. 2008 May;27(10):2529-41. doi: 10.1111/j.1460-9568.2008.06217.x. Epub 2008 Apr 26.

PMID:
18445051
[PubMed - indexed for MEDLINE]
17.

The genetics of hyperekplexia: more than startle!

Harvey RJ, Topf M, Harvey K, Rees MI.

Trends Genet. 2008 Sep;24(9):439-47. doi: 10.1016/j.tig.2008.06.005. Epub 2008 Aug 15. Review.

PMID:
18707791
[PubMed - indexed for MEDLINE]
18.

The frameshift mutation oscillator (Glra1(spd-ot)) produces a complete loss of glycine receptor alpha1-polypeptide in mouse central nervous system.

Kling C, Koch M, Saul B, Becker CM.

Neuroscience. 1997 May;78(2):411-7.

PMID:
9145798
[PubMed - indexed for MEDLINE]
19.

Pathophysiological mechanisms of dominant and recessive GLRA1 mutations in hyperekplexia.

Chung SK, Vanbellinghen JF, Mullins JG, Robinson A, Hantke J, Hammond CL, Gilbert DF, Freilinger M, Ryan M, Kruer MC, Masri A, Gurses C, Ferrie C, Harvey K, Shiang R, Christodoulou J, Andermann F, Andermann E, Thomas RH, Harvey RJ, Lynch JW, Rees MI.

J Neurosci. 2010 Jul 14;30(28):9612-20. doi: 10.1523/JNEUROSCI.1763-10.2010.

PMID:
20631190
[PubMed - indexed for MEDLINE]
Free Article
20.

Hyperekplexia associated with compound heterozygote mutations in the beta-subunit of the human inhibitory glycine receptor (GLRB).

Rees MI, Lewis TM, Kwok JB, Mortier GR, Govaert P, Snell RG, Schofield PR, Owen MJ.

Hum Mol Genet. 2002 Apr 1;11(7):853-60.

PMID:
11929858
[PubMed - indexed for MEDLINE]
Free Article

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