Research output per year
Research output per year
Professor
Research activity per year
Amino Acid Genetics and Human Disease
Amino acids are the building blocks of proteins and other important biological molecules. The sulfur containing amino acid methionine is especially interesting as alterations in methionine metabolism and methionine-related pathways are found in many human diseases, including rare inborn errors of metabolism to common diseases such as cardiovascular disease and cancer. Methionine metabolism is a central metabolic node connecting a variety of important metabolic processes including folate/nucleotide biosynthesis, sulfur and redox metabolism, choline and lipid metabolism, polyamine metabolism, and a wide slew of methylation reactions involving the key methyl donor S-adenosylmethionine. The lab’s interest is understanding how mutations that affect key enzymes in methionine metabolism cause disease. Currently there are four major projects in the lab. Two concern the methionine salvage pathway gene, methylthioadenosine phosphorylase (MTAP). A third project involves studying a rare inborn error of methionine metabolism (CBS deficiency) using mouse models. The final project is related to understanding how alterations in amino acid metabolism contributes to renal cell carcinoma.
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