TorsinA is a protein that, when mutant, can cause dystonia. Major findings in this area include:
- Development of the antibody to torsinA, and work that helped to define the normal function of torsinA.
- Demonstration that torsinA protects against cell death and that mutant torsinA does not, and demonstration that torsinA is present in Lewy bodies in Parkinson's disease. Lewy bodies are massive clumps of protein within cells.
- Determination that torsinA is a chaperone-like enzyme that normally operates on proteins within the nuclear envelope where it is located. The nuclear envelope is a two-layered membrane surrounding the nucleus of a living cell.
- Determining where torsinA is located in the brain in normal rodents, in normal human controls, and in DYT1 dystonia patients.