I have a long-lasting interest in pathogenic mechanisms of ALS, particularly from the angle of mitochondrial involvement (bioenergetic impairments, calcium dysregulation, protein import defects). Genetic mutations in CHCHD10, a mitochondrial protein with still unknown function, is associated with familial ALS and mitochondrial myopathies. CHCHD10 mutations have become a recent focus of our laboratory. I am especially interested in the processes of mutant protein aggregation and its downstream metabolic effects, as well as therapies to tackle these problems through metabolic and pharmaceutical interventions.
Genetic and metabolic strategies for mutant CHCHD10 neuromuscular disorders
09/01/2022-08/31/2025Project ALS/NextGen ALS 2021-01
Pathogenic mechanisms and therapeutic strategies for CHCHD10 ALS
Full List of Published Work from My Bibliography: