In vivo PolG mouse models to unravel the mechanistic pathogenesis of PolG-related disorders
Lay Abstract
We generated or acquired through collaborations in the frame of The PolG Foundation project, a unique panel of mouse models reproducing the most common mutations in POLG. These include models for the A467T, W748S, G848S recessive mutations, and the Y955C dominant mutation.
Institution
Principle Investigator
Carlo Viscomi, Ph.D.
Carlo Viscomi is associate professor of biomedical sciences at the Università di Padova. In his work, he has explored numerous strategies to fight mitochondrial diseases and in recent work, Carlo has established the first mouse models for disease-causing mutations in the mitochondrial DNA polymerase (PolG). These models are now used to understand disease progression and probe ways to cure affected patients. Carlo’s work can be found published in journals such as Nature Medicine, Nucleic Acids Res. and EMBO Molecular Medicine. He holds a Ph.D. in physiology from the University of Milano and conducted postdoctoral training at the I.R.C.C.S. IstitutoNeurologicoC.Besta in Milano.
Collaborators in University of Gothenburg
Maria Falkenberg, Ph.D.
Collaborators in Università di Padova
Massimo Zeviani, Ph.D.