Article
A novel strategy using cardiac sodium channel polymorphic fragments to rescue trafficking-deficient SCN5A mutations.
Circulation. Cardiovascular genetics - 1 Oct 2011
Shinlapawittayatorn Krekwit, Dudash Lynn A, Du Xi X, Heller Lisa, Poelzing Steven, Ficker Eckhard, Deschênes Isabelle
Abstract excerpt
BACKGROUND: Brugada syndrome (BrS) is associated with mutations in the cardiac sodium channel (Na(v)1.5). We previously reported that the function of a trafficking-deficient BrS Na(v)1.5 mutation, R282H, could be restored by coexpression with the sodium channel polymorphism H558R. Here, we tested...
Topics
- Amino Acid Sequence
- Amino Acid Substitution
- Brugada Syndrome
- Cell Line
- Fluorescence Resonance Energy Transfer
- Genetic Vectors
- HEK293 Cells
- Humans
- Molecular Sequence Data
- Mutation
- NAV1.5 Voltage-Gated Sodium Channel
- Patch-Clamp Techniques
- Peptides