Research output per year
Research output per year
Professor of Genetics, Executive Director of the McDonnell Genome Institute, Head of the Department of Genetics, Professor of Medicine, Professor of Neurology, Professor of Pathology and Immunology, James S McDonnell Professor of Genetics
Research activity per year
Axonal degeneration is a major component of many diseases, including hereditary neuropathy, diabetes, amyotrophic lateral sclerosis (ALS), and multiple sclerosis. Mitochondrial dysfunction caused by mutations or toxins is also closely associated with both axonopathy and neurodegenerative disease. Through studies of Wld mutant mice, we found that enzymes involved in cellular energetics (NAD biosynthesis), the longevity-associated protein SIRT1, and resveratrol, a polyphenol found in red wine, can protect against axonal degeneration after injury or mitochondrial damage. To understand how deficits in neuronal metabolism lead to inappropriate responses to stress and result in disease, we are exploring how changes in energy utilization and production influence neuronal function in mice engineered to have deficits in NAD biosynthetic pathways, mitochondrial proteins, and AMP kinase subunits.
Research output: Contribution to journal › Article › peer-review
Research output: Contribution to journal › Article › peer-review
Research output: Contribution to journal › Article › peer-review
Research output: Contribution to journal › Article › peer-review
Research output: Contribution to journal › Article › peer-review