New hyperekplexia mutations provide insight into glycine receptor assembly, trafficking, and activation mechanisms

Anna Bode, Sian Elin Wood, Jonathan G.L. Mullins, Angelo Keramidas, Thomas D. Cushion, Rhys H. Thomas, William O. Pickrell, Cheney J.G. Drew, Amira Masri, Elizabeth A. Jones, Grace Vassallo, Alfred P. Born, Fusun Alehan, Sharon Aharoni, Gerald Bannasch, Marius Bartsch, Bulent Kara, Amanda Krause, Elie G. Karam, Stephanie MattaVivek Jain, Hanna Mandel, Michael Freilinger, Gail E. Graham, Emma Hobson, Sue Chatfield, Catherine Vincent-Delorme, Jubran E. Rahme, Zaid Afawi, Samuel F. Berkovic, Owain W. Howell, Jean François Vanbellinghen, Mark I. Rees, Seo Kyung Chung, Joseph W. Lynch

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)33745-33759
Number of pages15
JournalJournal of Biological Chemistry
Volume288
Issue number47
DOIs
StatePublished - 22 Nov 2013

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