Article
Network topology of NaV1.7 mutations in sodium channel-related painful disorders.
BMC systems biology - 24 Feb 2017
Kapetis Dimos, Sassone Jenny, Yang Yang, Galbardi Barbara, Xenakis Markos N, Westra Ronald L, Szklarczyk Radek, Lindsey Patrick, Faber Catharina G, Gerrits Monique, Merkies Ingemar S J, Dib-Hajj Sulayman D, Mantegazza Massimo, Waxman Stephen G, Lauria Giuseppe
Abstract excerpt
BACKGROUND: Gain-of-function mutations in SCN9A gene that encodes the voltage-gated sodium channel NaV1.7 have been associated with a wide spectrum of painful syndromes in humans including inherited erythromelalgia, paroxysmal extreme pain disorder and small fibre neuropathy. These mutations chan...
Topics
- Computational Biology
- Humans
- Models, Molecular
- Mutagenesis
- Mutation
- NAV1.7 Voltage-Gated Sodium Channel
- Pain
- Polymorphism, Single Nucleotide
- Protein Conformation
- Protein Interaction Mapping