Journal article
New hyperekplexia mutations provide insight into glycine receptor assembly, trafficking, and activation mechanisms
A Bode, SE Wood, JGL Mullins, A Keramidas, TD Cushion, RH Thomas, WO Pickrell, CJG Drew, A Masri, EA Jones, G Vassallo, AP Born, F Alehan, S Aharoni, G Bannasch, M Bartsch, B Kara, A Krause, EG Karam, S Matta Show all
Journal of Biological Chemistry | Published : 2013
Open access
Abstract
Background: Hyperekplexia mutations have provided much information about glycine receptor structure and function. Results: Weidentified and characterized nine new mutations. Dominant mutations resulted in spontaneous activation, whereas recessive mutations precluded surface expression. Conclusion: These data provide insight into glycine receptor activation mechanisms and surface expression determinants. Significance: The results enhance our understanding of hyperekplexia pathology and glycine receptor structure-function. © 2013 by The American Society for Biochemistry and Molecular Biology, Inc. Published in the U.S.A. © 2013 by The American Society for Biochemistry and Molecular Biology, In..
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Funding Acknowledgements
This work was supported by the Australian Research Council (JWL), Waterloo Foundation (MIR), the National Institute of Social Care and Health Research (NISCHR-RRG; to MIR, RHT and SKC), Wales Gene Park (MIR).Supported by an Epilepsy Research UK fellowship.Supported by the National Health and Medical Research Council. To whom correspondence should be addressed: Queensland Brain Institute, University of Queensland, Brisbane,