184 related articles for article (PubMed ID: 24198360)
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; 33(45):17675-81. PubMed ID: 24198360
[TBL] [Abstract][Full Text] [Related]
2. A Missense Mutation A384P Associated with Human Hyperekplexia Reveals a Desensitization Site of Glycine Receptors.
Wang CH; Hernandez CC; Wu J; Zhou N; Hsu HY; Shen ML; Wang YC; Macdonald RL; Wu DC
J Neurosci; 2018 Mar; 38(11):2818-2831. PubMed ID: 29440552
[TBL] [Abstract][Full Text] [Related]
3. Disruption of a Structurally Important Extracellular Element in the Glycine Receptor Leads to Decreased Synaptic Integration and Signaling Resulting in Severe Startle Disease.
Schaefer N; Berger A; van Brederode J; Zheng F; Zhang Y; Leacock S; Littau L; Jablonka S; Malhotra S; Topf M; Winter F; Davydova D; Lynch JW; Paige CJ; Alzheimer C; Harvey RJ; Villmann C
J Neurosci; 2017 Aug; 37(33):7948-7961. PubMed ID: 28724750
[TBL] [Abstract][Full Text] [Related]
4. 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; 52(4):679-90. PubMed ID: 17114051
[TBL] [Abstract][Full Text] [Related]
5. Investigating the Mechanism by Which Gain-of-function Mutations to the α1 Glycine Receptor Cause Hyperekplexia.
Zhang Y; Bode A; Nguyen B; Keramidas A; Lynch JW
J Biol Chem; 2016 Jul; 291(29):15332-41. PubMed ID: 27226610
[TBL] [Abstract][Full Text] [Related]
6. 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. PubMed ID: 18043720
[TBL] [Abstract][Full Text] [Related]
7. A Novel Glycine Receptor Variant with Startle Disease Affects Syndapin I and Glycinergic Inhibition.
Langlhofer G; Schaefer N; Maric HM; Keramidas A; Zhang Y; Baumann P; Blum R; Breitinger U; Strømgaard K; Schlosser A; Kessels MM; Koch D; Qualmann B; Breitinger HG; Lynch JW; Villmann C
J Neurosci; 2020 Jun; 40(25):4954-4969. PubMed ID: 32354853
[TBL] [Abstract][Full Text] [Related]
8. Murine startle mutant Nmf11 affects the structural stability of the glycine receptor and increases deactivation.
Wilkins ME; Caley A; Gielen MC; Harvey RJ; Smart TG
J Physiol; 2016 Jul; 594(13):3589-607. PubMed ID: 27028707
[TBL] [Abstract][Full Text] [Related]
9. 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. PubMed ID: 22264702
[TBL] [Abstract][Full Text] [Related]
10. The startle disease mutation α1S270T predicts shortening of glycinergic synaptic currents.
Wu Z; Lape R; Jopp-Saile L; O'Callaghan BJ; Greiner T; Sivilotti LG
J Physiol; 2020 Aug; 598(16):3417-3438. PubMed ID: 32445491
[TBL] [Abstract][Full Text] [Related]
11. 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; 520 Pt 1(Pt 1):53-64. PubMed ID: 10517800
[TBL] [Abstract][Full Text] [Related]
12. 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. PubMed ID: 22037201
[TBL] [Abstract][Full Text] [Related]
13. 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; 19(3):869-77. PubMed ID: 9920650
[TBL] [Abstract][Full Text] [Related]
14. 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. PubMed ID: 8651283
[TBL] [Abstract][Full Text] [Related]
15. 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. PubMed ID: 24029548
[TBL] [Abstract][Full Text] [Related]
16. 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; 30(28):9612-20. PubMed ID: 20631190
[TBL] [Abstract][Full Text] [Related]
17. 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. PubMed ID: 24390226
[TBL] [Abstract][Full Text] [Related]
18. The impact of human hyperekplexia mutations on glycine receptor structure and function.
Bode A; Lynch JW
Mol Brain; 2014 Jan; 7():2. PubMed ID: 24405574
[TBL] [Abstract][Full Text] [Related]
19. 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; 22(5):927-40. PubMed ID: 23184146
[TBL] [Abstract][Full Text] [Related]
20. 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; 4(11):1469-78. PubMed ID: 23992940
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
