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Results: 1 to 20 of 107

1.

The GLRA1 missense mutation W170S associates lack of Zn2+ potentiation with human hyperekplexia.

Zhou N, Wang CH, Zhang S, Wu DC.

J Neurosci. 2013 Nov 6;33(45):17675-81. doi: 10.1523/JNEUROSCI.3240-13.2013.

PMID:
24198360
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

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
3.

The novel hyperekplexia allele GLRA1(S267N) affects the ethanol site of the glycine receptor.

Becker K, Breitinger HG, Humeny A, Meinck HM, Dietz B, Aksu F, Becker CM.

Eur J Hum Genet. 2008 Feb;16(2):223-8. Epub 2007 Nov 28.

PMID:
18043720
[PubMed - indexed for MEDLINE]
Free Article
4.

Identification of an inhibitory Zn2+ binding site on the human glycine receptor alpha1 subunit.

Harvey RJ, Thomas P, James CH, Wilderspin A, Smart TG.

J Physiol. 1999 Oct 1;520 Pt 1:53-64.

PMID:
10517800
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

Novel mutation of GLRA1 in Omani families with hyperekplexia and mild mental retardation.

Al-Futaisi AM, Al-Kindi MN, Al-Mawali AM, Koul RL, Al-Adawi S, Al-Yahyaee SA.

Pediatr Neurol. 2012 Feb;46(2):89-93. doi: 10.1016/j.pediatrneurol.2011.11.008.

PMID:
22264702
[PubMed - indexed for MEDLINE]
6.

Characterization of two mutations, M287L and Q266I, in the α1 glycine receptor subunit that modify sensitivity to alcohols.

Borghese CM, Blednov YA, Quan Y, Iyer SV, Xiong W, Mihic SJ, Zhang L, Lovinger DM, Trudell JR, Homanics GE, Harris RA.

J Pharmacol Exp Ther. 2012 Feb;340(2):304-16. doi: 10.1124/jpet.111.185116. Epub 2011 Oct 28.

PMID:
22037201
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

Novel GLRA1 missense mutation (P250T) in dominant hyperekplexia defines an intracellular determinant of glycine receptor channel gating.

Saul B, Kuner T, Sobetzko D, Brune W, Hanefeld F, Meinck HM, Becker CM.

J Neurosci. 1999 Feb 1;19(3):869-77.

PMID:
9920650
[PubMed - indexed for MEDLINE]
Free Article
8.

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
9.

A GLRA1 null mutation in recessive hyperekplexia challenges the functional role of glycine receptors.

Brune W, Weber RG, Saul B, von Knebel Doeberitz M, Grond-Ginsbach C, Kellerman K, Meinck HM, Becker CM.

Am J Hum Genet. 1996 May;58(5):989-97.

PMID:
8651283
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

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
11.

Recessive hyperekplexia mutations of the glycine receptor alpha1 subunit affect cell surface integration and stability.

Villmann C, Oertel J, Melzer N, Becker CM.

J Neurochem. 2009 Nov;111(3):837-47. doi: 10.1111/j.1471-4159.2009.06372.x. Epub 2009 Sep 1.

PMID:
19732286
[PubMed - indexed for MEDLINE]
12.

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
13.

GLRB is the third major gene of effect in hyperekplexia.

Chung SK, Bode A, Cushion TD, Thomas RH, Hunt C, Wood SE, Pickrell WO, Drew CJ, Yamashita S, Shiang R, Leiz S, Longardt AC, Raile V, Weschke B, Puri RD, Verma IC, Harvey RJ, Ratnasinghe DD, Parker M, Rittey C, Masri A, Lingappa L, Howell OW, Vanbellinghen JF, Mullins JG, Lynch JW, Rees MI.

Hum Mol Genet. 2013 Mar 1;22(5):927-40. doi: 10.1093/hmg/dds498. Epub 2012 Nov 25. Erratum in: Hum Mol Genet. 2013 Jun 15;22(12):2552. Longhardt, Ann-Carolyn [corrected to Longardt, Ann-Carolyn].

PMID:
23184146
[PubMed - indexed for MEDLINE]
Free Article
14.

Presynaptic glycine receptors as a potential therapeutic target for hyperekplexia disease.

Xiong W, Chen SR, He L, Cheng K, Zhao YL, Chen H, Li DP, Homanics GE, Peever J, Rice KC, Wu LG, Pan HL, Zhang L.

Nat Neurosci. 2014 Feb;17(2):232-9. doi: 10.1038/nn.3615. Epub 2014 Jan 5.

PMID:
24390226
[PubMed - indexed for MEDLINE]
15.

Hereditary hyperekplexia caused by novel mutations of GLRA1 in Turkish families.

Gilbert SL, Ozdag F, Ulas UH, Dobyns WB, Lahn BT.

Mol Diagn. 2004;8(3):151-5.

PMID:
15771552
[PubMed - indexed for MEDLINE]
16.

Compound heterozygosity and nonsense mutations in the alpha(1)-subunit of the inhibitory glycine receptor in hyperekplexia.

Rees MI, Lewis TM, Vafa B, Ferrie C, Corry P, Muntoni F, Jungbluth H, Stephenson JB, Kerr M, Snell RG, Schofield PR, Owen MJ.

Hum Genet. 2001 Sep;109(3):267-70.

PMID:
11702206
[PubMed - indexed for MEDLINE]
17.

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
18.

Propofol modulation of α1 glycine receptors does not require a structural transition at adjacent subunits that is crucial to agonist-induced activation.

Lynagh T, Kunz A, Laube B.

ACS Chem Neurosci. 2013 Nov 20;4(11):1469-78. doi: 10.1021/cn400134p. Epub 2013 Sep 17.

PMID:
23992940
[PubMed - indexed for MEDLINE]
19.

Mutation of a zinc-binding residue in the glycine receptor α1 subunit changes ethanol sensitivity in vitro and alcohol consumption in vivo.

McCracken LM, Blednov YA, Trudell JR, Benavidez JM, Betz H, Harris RA.

J Pharmacol Exp Ther. 2013 Feb;344(2):489-500. doi: 10.1124/jpet.112.197707. Epub 2012 Dec 10.

PMID:
23230213
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Mutations within the agonist-binding site convert the homomeric alpha1 glycine receptor into a Zn2+-activated chloride channel.

Grudzinska J, Schumann T, Schemm R, Betz H, Laube B.

Channels (Austin). 2008 Jan-Feb;2(1):13-8. Epub 2008 Mar 12.

PMID:
18690053
[PubMed - indexed for MEDLINE]
Free Article

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