Volume 8 Issue 6
Jun.  2017
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Weiyun Huang, Minhao Liu, S. Frank Yan, Nieng Yan. Structure-based assessment of diseaserelated mutations in human voltage-gated sodium channels[J]. Protein&Cell, 2017, 8(6): 401-438. doi: 10.1007/s13238-017-0372-z
Citation: Weiyun Huang, Minhao Liu, S. Frank Yan, Nieng Yan. Structure-based assessment of diseaserelated mutations in human voltage-gated sodium channels[J]. Protein&Cell, 2017, 8(6): 401-438. doi: 10.1007/s13238-017-0372-z

Structure-based assessment of diseaserelated mutations in human voltage-gated sodium channels

doi: 10.1007/s13238-017-0372-z
Funds:

This work was supported by funds from the National Basic Research Program (973 Program) (2015CB910101, 2016YFA0500402, 2014ZX09507003-006), the National Natural Science Foundation of China (projects 31621092, 31630017, and 31611130036).

  • Received Date: 2016-11-18
  • Rev Recd Date: 2017-01-09
  • Voltage-gated sodium (Nav) channels are essential for the rapid upstroke of action potentials and the propagation of electrical signals in nerves and muscles. Defects of Nav channels are associated with a variety of channelopathies. More than 1000 disease-related mutations have been identified in Nav channels, with Nav 1.1 and Nav 1.5 each harboring more than 400 mutations. Nav channels represent major targets for a wide array of neurotoxins and drugs. Atomic structures of Nav channels are required to understand their function and disease mechanisms. The recently determined atomic structure of the rabbit voltage-gated calcium (Cav) channel Cav 1.1 provides a template for homology-based structural modeling of the evolutionarily related Nav channels. In this Resource article, we summarized all the reported disease-related mutations in human Nav channels, generated a homologous model of human Nav 1.7, and structurally mapped disease-associated mutations. Before the determination of structures of human Nav channels, the analysis presented here serves as the base framework for mechanistic investigation of Nav channelopathies and for potential structure-based drug discovery.
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