Characterization of the human homozygous R182W POLG2 mutation in mitochondrial DNA depletion syndrome

por Hoff, Kirsten E., DeBalsi, Karen L., Sanchez-Quintero, Maria J., Longley, Matthew J., Hirano, Michio, Naini, Ali B., Copeland, William C.
Publicado 2018

A Case Study of Dysfunctional Nicotinamide Metabolism in a 20-Year-Old Male

por DeBalsi, Karen L., Newman, John H., Sommerville, Laura J., Phillips, John A., Hamid, Rizwan, Cogan, Joy, Fessel, Joshua P., Evans, Anne M., Network, Undiagnosed Diseases, Kennedy, Adam D.
Publicado 2023

Muscle-Specific Overexpression of PGC-1α Does Not Augment Metabolic Improvements in Response to Exercise and Caloric Restriction

por Wong, Kari E., Mikus, Catherine R., Slentz, Dorothy H., Seiler, Sarah E., DeBalsi, Karen L., Ilkayeva, Olga R., Crain, Karen I., Kinter, Michael T., Kien, C. Lawrence, Stevens, Robert D., Muoio, Deborah M.
Publicado 2015