Disease-causing Missense Mutations

Characterization and Stability Studies of IVD Naturally Occurring Disease-causing Missense Mutations

As many as six naturally occurring missense mutations have been introduced into recombinant isovaleryl Coenzyme A dehydrogenase (IVD) cloned in a prokaryotic expression vector. Four were stable enough to produce, and two failed to produce protein in the cell free extract. Three of the four had activity. Our lab is characterizing these mutants and their thermal stability, as they will be potential targets for therapy.

Principal Investigator

Al-Walid A. Mohsen, PhD