Calculated based on number of publications stored in Pure and citations from Scopus
Calculated based on number of publications stored in Pure and citations from Scopus
Calculated based on number of publications stored in Pure and citations from Scopus
1987 …2024

Research activity per year

Personal profile

Research interests

Amino Acid Genetics and Human Disease

  • Mouse models with altered sulfur amino acid homeostasis
  • Proteostasis modulators and mutant CBS
  • Targeting MTAP deletion in human cancer
  • Alterations in blood amino acids in human cancer patients.

Professional Information

Lab Overview

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.

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