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.
URL
Fingerprint
- 1 Similar Profiles
Collaborations and top research areas from the last five years
-
Dietary Shift Leads to Venous Thrombosis-Induced Congestive Liver Failure in CBS-Deficient Mice
Lee, H. O., Qai, C. Q., Slifker, M. J. & Kruger, W. D., Sep 2025, In: Journal of Inherited Metabolic Disease. 48, 5, e70076.Research output: Contribution to journal › Article › peer-review
-
Deciphering pathophysiological mechanisms underlying cystathionine beta-synthase-deficient homocystinuria using targeted metabolomics, liver proteomics, sphingolipidomics and analysis of mitochondrial function
Majtan, T., Olsen, T., Sokolova, J., Krijt, J., Křížková, M., Ida, T., Ditrói, T., Hansikova, H., Vit, O., Petrak, J., Kuchař, L., Kruger, W. D., Nagy, P., Akaike, T. & Kožich, V., Jul 2024, In: Redox Biology. 73, p. 103222 103222.Research output: Contribution to journal › Article › peer-review
Open Access8 Scopus citations -
Impact of primary sequence changes on the self-association properties of mammalian cystathionine beta-synthase enzymes
Lee, H., Gupta, K., Wang, L., Dunbrack, R. L., Majtan, T. & Kruger, W. D., Dec 2024, In: Protein Science. 33, 12, p. e5223 e5223.Research output: Contribution to journal › Article › peer-review
-
Real-time detection of enzymatically formed hydrogen sulfide by pathogenic variants of cystathionine beta-synthase using hemoglobin I of Lucina pectinata as a biosensor
Myszkowska, J., Klotz, K., Leandro, P., Kruger, W. D., Froese, D. S., Baumgartner, M. R., Spiekerkoetter, U. & Hannibal, L., Oct 2024, In: Free Radical Biology and Medicine. 223, p. 281-295 15 p.Research output: Contribution to journal › Article › peer-review
Open Access2 Scopus citations -
An orally administered enzyme therapeutic for homocystinuria that suppresses homocysteine by metabolizing methionine in the gastrointestinal tract
Skvorak, K., Mitchell, V., Teadt, L., Franklin, K. A., Lee, H. O., Kruse, N., Huitt-Roehl, C., Hang, J., Du, F., Galanie, S., Guan, S., Aijaz, H., Zhang, N., Rajkovic, G., Kruger, W. D., Ismaili, M. H. A., Huisman, G., McCluskie, K. & Silverman, A. P., Aug 2023, In: Molecular Genetics and Metabolism. 139, 4, p. 107653 107653.Research output: Contribution to journal › Article › peer-review
Open Access7 Scopus citations