Article
Trafficking and localisation to the plasma membrane of Nav 1.5 promoted by the β2 subunit is defective due to a β2 mutation associated with Brugada syndrome.
Biology of the cell - 1 Jul 2017
Dulsat Gemma, Palomeras Sonia, Cortada Eric, Riuró Helena, Brugada Ramon, Vergés Marcel
Abstract excerpt
BACKGROUND INFORMATION: Cardiac channelopathies arise by mutations in genes encoding ion channel subunits. One example is Brugada Syndrome (BrS), which causes arrhythmias and sudden death. BrS is often associated with mutations in SCN5A, encoding Nav 1.5, the α subunit of the major cardiac voltag...
Topics
- Animals
- Brugada Syndrome
- Cell Membrane
- Cells, Cultured
- Dogs
- Humans
- Madin Darby Canine Kidney Cells
- Mutation
- Myocytes, Cardiac
- NAV1.5 Voltage-Gated Sodium Channel
- Phenotype
- Protein Subunits
- Protein Transport
- Voltage-Gated Sodium Channel beta-1 Subunit
- Voltage-Gated Sodium Channel beta-2 Subunit