The novel hyperekplexia allele GLRA1(S267N) affects the ethanol site of the glycine receptor-Reference-Cited by-同舟云学术

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

Published:2007-11-28 Issue:2 Volume:16 Page:223-228
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Becker Kristina,Breitinger Hans-Georg,Humeny Andreas,Meinck Hans-Michael,Dietz Bernd,Aksu Fuat,Becker Cord-Michael

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/5201958.pdf

Reference19 articles.

1. Shiang R, Ryan SG, Zhu YZ et al: Mutations in the alpha 1 subunit of the inhibitory glycine receptor cause the dominant neurologic disorder, hyperekplexia. Nat Genet 1993; 5: 351–358.

2. Eulenburg V, Becker K, Gomeza J et al: Mutations within the human GLYT2 (SLC6A5) gene associated with hyperekplexia. Biochem Biophys Res Commun 2006; 348: 400–405.

3. Rees MI, Lewis TM, Kwok JB et al: Hyperekplexia associated with compound heterozygote mutations in the beta-subunit of the human inhibitory glycine receptor (GLRB). Hum Mol Genet 2002; 11: 853–860.

4. Rees MI, Harvey K, Pearce BR et al: Mutations in the gene encoding GlyT2 (SLC6A5) define a presynaptic component of human startle disease. Nat Genet 2006; 38: 801–806.

5. Lynch JW : Molecular structure and function of the glycine receptor chloride channel. Physiol Rev 2004; 84: 1051–1095.

Cited by 17 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Fine-Tuning of Neuronal Ion Channels–Mapping of Residues Involved in Glucose Sensitivity of Recombinant Human Glycine Receptors;ACS Chemical Neuroscience;2020-10-02

2. Modulators of the Inhibitory Glycine Receptor;ACS Chemical Neuroscience;2020-05-11

3. A novel nonsense autosomal dominant mutation in the GLRA1 gene causing hyperekplexia;Journal of Neural Transmission;2018-09-04

4. Impaired Glycine Receptor Trafficking in Neurological Diseases;Frontiers in Molecular Neuroscience;2018-08-21

5. Modulation of Recombinant Human α1 Glycine Receptors by Mono- and Disaccharides: A Kinetic Study;ACS Chemical Neuroscience;2016-06-09

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