Search Results - "DeBalsi, Karen L."

Role of the mitochondrial DNA replication machinery in mitochondrial DNA mutagenesis, aging and age-related diseases by DeBalsi, Karen L, Hoff, Kirsten E, Copeland, William C

“…Highlights • Mitochondrial dysfunction in conjunction with altered mitochondrial dynamics drives aging. • Spontaneous errors of replication cause mtDNA point…”
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Muscle-Specific Deletion of Carnitine Acetyltransferase Compromises Glucose Tolerance and Metabolic Flexibility by Muoio, Deborah M., Noland, Robert C., Kovalik, Jean-Paul, Seiler, Sarah E., Davies, Michael N., DeBalsi, Karen L., Ilkayeva, Olga R., Stevens, Robert D., Kheterpal, Indu, Zhang, Jingying, Covington, Jeffrey D., Bajpeyi, Sudip, Ravussin, Eric, Kraus, William, Koves, Timothy R., Mynatt, Randall L.

“…The concept of “metabolic inflexibility” was first introduced to describe the failure of insulin-resistant human subjects to appropriately adjust mitochondrial…”
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Carnitine Acetyltransferase Mitigates Metabolic Inertia and Muscle Fatigue during Exercise by Seiler, Sarah E., Koves, Timothy R., Gooding, Jessica R., Wong, Kari E., Stevens, Robert D., Ilkayeva, Olga R., Wittmann, April H., DeBalsi, Karen L., Davies, Michael N., Lindeboom, Lucas, Schrauwen, Patrick, Schrauwen-Hinderling, Vera B., Muoio, Deborah M.

“…Acylcarnitine metabolites have gained attention as biomarkers of nutrient stress, but their physiological relevance and metabolic purpose remain…”
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Characterization of the human homozygous R182W POLG2 mutation in mitochondrial DNA depletion syndrome by Hoff, Kirsten E, DeBalsi, Karen L, Sanchez-Quintero, Maria J, Longley, Matthew J, Hirano, Michio, Naini, Ali B, Copeland, William C

“…Mutations in mitochondrial DNA (mtDNA) have been linked to a variety of metabolic, neurological and muscular diseases which can present at any time throughout…”
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PPARγ coactivator-1α contributes to exercise-induced regulation of intramuscular lipid droplet programming in mice and humans by Koves, Timothy R., Sparks, Lauren M., Kovalik, J.P., Mosedale, Merrie, Arumugam, Ramamani, DeBalsi, Karen L., Everingham, Karen, Thorne, Leigh, Phielix, Esther, Meex, Ruth C., Kien, C. Lawrence, Hesselink, Matthijs K.C., Schrauwen, Patrick, Muoio, Deborah M.

“…Intramuscular accumulation of triacylglycerol, in the form of lipid droplets (LD), has gained widespread attention as a hallmark of metabolic disease and…”
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Integrating Genome Sequencing and Untargeted Metabolomics in Monozygotic Twins with a Rare Complex Neurological Disorder by Shaath, Rulan, Al-Maraghi, Aljazi, Ali, Haytham, AlRayahi, Jehan, Kennedy, Adam D, DeBalsi, Karen L, Hussein, Sura, Elbashir, Najwa, Padmajeya, Sujitha S, Palaniswamy, Sasirekha, Elsea, Sarah H, Akil, Ammira A, Yousri, Noha A, Fakhro, Khalid A

“…Multi-omics approaches, which integrate genomics, transcriptomics, proteomics, and metabolomics, have emerged as powerful tools in the diagnosis of rare…”
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A Case Study of Dysfunctional Nicotinamide Metabolism in a 20-Year-Old Male by DeBalsi, Karen L, Newman, John H, Sommerville, Laura J, Phillips, 3rd, John A, Hamid, Rizwan, Cogan, Joy, Fessel, Joshua P, Evans, Anne M, Undiagnosed Diseases Network, Kennedy, Adam D

“…We present a case study of a 20-year-old male with an unknown neurodegenerative disease who was referred to the Undiagnosed Diseases Network Vanderbilt Medical…”
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Obesity and lipid stress inhibit carnitine acetyltransferase activity[S] by Seiler, Sarah E., Martin, Ola J., Noland, Robert C., Slentz, Dorothy H., DeBalsi, Karen L., Ilkayeva, Olga R., An, Jie, Newgard, Christopher B., Koves, Timothy R., Muoio, Deborah M.

“…Carnitine acetyltransferase (CrAT) is a mitochondrial matrix enzyme that catalyzes the interconversion of acetyl-CoA and acetylcarnitine. Emerging evidence…”
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Synergistic Effects of the in cis T251I and P587L Mitochondrial DNA Polymerase γ Disease Mutations by DeBalsi, Karen L., Longley, Matthew J., Hoff, Kirsten E., Copeland, William C.

“…Human mitochondrial DNA (mtDNA) polymerase γ (Pol γ) is the only polymerase known to replicate the mitochondrial genome. The Pol γ holoenzyme consists of the…”
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POLG2 disease variants: analyses reveal a dominant negative heterodimer, altered mitochondrial localization and impaired respiratory capacity by Young, Matthew J, Humble, Margaret M, DeBalsi, Karen L, Sun, Kathie Y, Copeland, William C

“…Human mitochondrial DNA (mtDNA) is replicated and repaired by the mtDNA polymerase gamma, polγ. Polγ is composed of three subunits encoded by two nuclear…”
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Muscle-Specific Overexpression of PGC-1α Does Not Augment Metabolic Improvements in Response to Exercise and Caloric Restriction by 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

“…This study used mice with muscle-specific overexpression of PGC-1α, a transcriptional coactivator that promotes mitochondrial biogenesis, to determine whether…”
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Targeted Metabolomics Connects Thioredoxin-interacting Protein (TXNIP) to Mitochondrial Fuel Selection and Regulation of Specific Oxidoreductase Enzymes in Skeletal Muscle by DeBalsi, Karen L., Wong, Kari E., Koves, Timothy R., Slentz, Dorothy H., Seiler, Sarah E., Wittmann, April H., Ilkayeva, Olga R., Stevens, Robert D., Perry, Christopher G.R., Lark, Daniel S., Hui, Simon T., Szweda, Luke, Neufer, P. Darrell, Muoio, Deborah M.

“…Thioredoxin-interacting protein (TXNIP) is an α-arrestin family member involved in redox sensing and metabolic control. Growing evidence links TXNIP to…”
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Biochemical characterization of PolG exonuclease disease mutations by DeBalsi, Karen L., Longley, Matthew J., Hoff, Kirsten E., Gattis, Samuel G., Copeland, William C.

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

“…This study used mice with muscle-specific overexpression of PGC-1α, a transcriptional coactivator that promotes mitochondrial biogenesis, to determine whether…”
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Integrating Genome Sequencing and Untargeted Metabolomics in Monozygotic Twins with a Rare Complex Neurological Disorder by Shaath, Rulan, Al-Maraghi, Aljazi, Ali, Haytham, AlRayahi, Jehan, Kennedy, Adam D, DeBalsi, Karen L, Hussein, Sura, Elbashir, Najwa, Padmajeya, Sujitha S, Palaniswamy, Sasirekha, Elsea, Sarah H, Akil, Ammira A, Yousri, Noha A, Fakhro, Khalid A

“…Multi-omics approaches, which integrate genomics, transcriptomics, proteomics, and metabolomics, have emerged as powerful tools in the diagnosis of rare…”
Get full text