Single amino acid deletion in transmembrane segment D4S6 of sodium channel Scn8a (Nav1.6) in a mouse mutant with a chronic movement disorder
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- 作者：Julie M. Jonesa ; Louise Dionneb ; James Dell'Orcoc ; Rachel Parentd ; Jamie N. Kruegerd ; Xiaoyang Chenge ; 1 ; xycheng@shsmu.edu.cn" class="auth_mail" title="E-mail the corresponding author ; Sulayman D. Dib-Hajje ; Rosie K. Bunton-Stasyshyna ; Lisa M. Sharkeyc ; James J. Dowlingc ; Geoffrey G. Murphyd ; f ; Vikram G. Shakkottaic ; Peter Shragerg ; Miriam H. Meislera ; meislerm@umich.edu" class="auth_mail" title="E-mail the corresponding author
- 关键词：Voltage-gated sodium channel ; Movement disorder ; Transmembrane segment ; Glycosylation ; Axon initial segment ; Nodes of Ranvier ; Purkinje cell ; Scn8a ; Nav1.6
- 刊名：Neurobiology of Disease
- 出版年：2016
- 出版时间：May 2016
- 年：2016
- 卷：89
- 期：Complete
- 页码：36-45
- 全文大小：2435 K
文摘
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Spontaneous mutation of Scn8a generates a recessive movement disorder.
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Deletion of residue 1750 alters the identity of pore-lining residues.
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Sodium channel activity is reduced in Purkinje cells and ND7/23 cells.
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Defective glycosylation and localization of Nav1.6 to nodes of Ranvier.
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Mutant protein Nav1.6 is not detectable at the axon initial segment.