What is the mutated PXE-associated protein doing (or not doing) in the liver, and can we fix it?
There are many different mutations in the ABCC6 gene that cause PXE. These mutations produce defective proteins that do not funciton as they should, thus causing PXE. Dr. András Váradi and his research team at the Hungarian Academy of Sciences in Budapest are working to discover how the defective protein causes PXE. They studied 10 variations of the PXE-associated protein. In most cases they found that the mutated protein could not travel within the cell to its correct location - the plasma membrane of the cell - where its action is needed. They hypothesized that certain drugs might help to "guide" the mutated protein to the plasma membrane in liver cells where it hopefully could fulfill its function. Join Dr. Váradi in this webinar as he shares how he tested his hypothesis and presents preliminary results of his research.
Presenter: András Váradi, PhD, DSc
Presented on May 15, 2013