ARHGEF9 mutations in epileptic encephalopathy/intellectual disability: toward understanding the mechanism underlying phenotypic variation-Reference-Cited by-同舟云学术

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ARHGEF9 mutations in epileptic encephalopathy/intellectual disability: toward understanding the mechanism underlying phenotypic variation

Published:2017-11-13 Issue:1 Volume:19 Page:9-16
ISSN:1364-6745
Container-title:neurogenetics
language:en
Short-container-title:Neurogenetics

Author:

Wang Jing-Yang,Zhou Peng,Wang Jie,Tang Bin,Su Tao,Liu Xiao-Rong,Li Bing-Mei,Meng Heng,Shi Yi-Wu,Yi Yong-Hong,He Na,Liao Wei-Ping^ORCID

Funder

the National Natural Science Foundation of China

Publisher

Springer Science and Business Media LLC

Subject

Cellular and Molecular Neuroscience,Genetics(clinical),Genetics

Link

http://link.springer.com/article/10.1007/s10048-017-0528-2/fulltext.html

Reference30 articles.

1. Kins S, Betz H, Kirsch J (2000) Collybistin, a newly identified brain-specific GEF, induces submembrane clustering of gephyrin. Nat Neurosci 3:22–29

2. Jedlicka P, Papadopoulos T, Deller T, Betz H, Schwarzacher SW (2009) Increased network excitability and impaired induction of long-term potentiation in the dentate gyrus of collybistin-deficient mice in vivo. Mol Cell Neurosci 41:94–100

3. Papadopoulos T, Korte M, Eulenburg V, Kubota H, Retiounskaia M, Harvey RJ, Harvey K, O'Sullivan GA, Laube B, Hulsmann S et al (2007) Impaired GABAergic transmission and altered hippocampal synaptic plasticity in collybistin-deficient mice. EMBO J 26:3888–3899

4. Papadopoulos T, Soykan T (2011) The role of collybistin in gephyrin clustering at inhibitory synapses: facts and open questions. Front Cell Neurosci 5:11

5. Harvey K, Duguid IC, Alldred MJ, Beatty SE, Ward H, Keep NH, Lingenfelter SE, Pearce BR, Lundgren J, Owen MJ et al (2004) The GDP-GTP exchange factor collybistin: an essential determinant of neuronal gephyrin clustering. J Neurosci 24:5816–5826

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