Zobrazeno 1 - 10
of 16
pro vyhledávání: '"Karen L DeBalsi"'
Autor:
Kirsten E Hoff, Karen L DeBalsi, Maria J Sanchez-Quintero, Matthew J Longley, Michio Hirano, Ali B Naini, William C Copeland
Publikováno v:
PLoS ONE, Vol 13, Iss 8, p e0203198 (2018)
Mutations in mitochondrial DNA (mtDNA) have been linked to a variety of metabolic, neurological and muscular diseases which can present at any time throughout life. MtDNA is replicated by DNA polymerase gamma (Pol γ), twinkle helicase and mitochondr
Externí odkaz:
https://doaj.org/article/df50385706fb4e65b9724f6ee0fdd5d7
Autor:
Rulan Shaath, Aljazi Al-Maraghi, Haytham Ali, Jehan AlRayahi, Adam D. Kennedy, Karen L. DeBalsi, Sura Hussein, Najwa Elbashir, Sujitha S. Padmajeya, Sasirekha Palaniswamy, Sarah H. Elsea, Ammira A. Akil, Noha A. Yousri, Khalid A. Fakhro
Publikováno v:
Metabolites, Vol 14, Iss 3, p 152 (2024)
Multi-omics approaches, which integrate genomics, transcriptomics, proteomics, and metabolomics, have emerged as powerful tools in the diagnosis of rare diseases. We used untargeted metabolomics and whole-genome sequencing (WGS) to gain a more compre
Externí odkaz:
https://doaj.org/article/363621f47bd04b7991f4b0b899d83913
Autor:
Karen L. DeBalsi, John H. Newman, Laura J. Sommerville, John A. Phillips, Rizwan Hamid, Joy Cogan, Joshua P. Fessel, Anne M. Evans, Undiagnosed Diseases Network, Adam D. Kennedy
Publikováno v:
Metabolites, Vol 13, Iss 3, p 399 (2023)
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 Center site. A previous metabolic panel showed that the patient had a critical deficiency
Externí odkaz:
https://doaj.org/article/121161c89d9a46c4b9ec32cc3cba8184
Autor:
Sarah E. Seiler, Ola J. Martin, Robert C. Noland, Dorothy H. Slentz, Karen L. DeBalsi, Olga R. Ilkayeva, Jie An, Christopher B. Newgard, Timothy R. Koves, Deborah M. Muoio
Publikováno v:
Journal of Lipid Research, Vol 55, Iss 4, Pp 635-644 (2014)
Carnitine acetyltransferase (CrAT) is a mitochondrial matrix enzyme that catalyzes the interconversion of acetyl-CoA and acetylcarnitine. Emerging evidence suggests that this enzyme functions as a positive regulator of total body glucose tolerance an
Externí odkaz:
https://doaj.org/article/4ee4bb6ffe9b483faa5be0ed9c3553fb
Autor:
Timothy R. Koves, Lauren M. Sparks, J.P. Kovalik, Merrie Mosedale, Ramamani Arumugam, Karen L. DeBalsi, Karen Everingham, Leigh Thorne, Esther Phielix, Ruth C. Meex, C. Lawrence Kien, Matthijs K.C. Hesselink, Patrick Schrauwen, Deborah M. Muoio
Publikováno v:
Journal of Lipid Research, Vol 54, Iss 2, Pp 522-534 (2013)
Intramuscular accumulation of triacylglycerol, in the form of lipid droplets (LD), has gained widespread attention as a hallmark of metabolic disease and insulin resistance. Paradoxically, LDs also amass in muscles of highly trained endurance athlete
Externí odkaz:
https://doaj.org/article/9283d0aa7a0f42f8a5917e7cca101b4e
Publikováno v:
Journal of Biological Chemistry. 292:4198-4209
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 p140 catalytic subunit (POLG) and the p55 homodimeric accessory subunit (POLG2), which en
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::83fa6b40d53a708e1c6fac5bff4e7501
https://doi.org/10.1074/jbc.m116.773341
https://doi.org/10.1074/jbc.m116.773341
Autor:
Karen L. DeBalsi, Ali Naini, William C. Copeland, Michio Hirano, Matthew J. Longley, Kirsten E. Hoff, Maria J. Sanchez-Quintero
Publikováno v:
PLoS ONE, Vol 13, Iss 8, p e0203198 (2018)
Mutations in mitochondrial DNA (mtDNA) have been linked to a variety of metabolic, neurological and muscular diseases which can present at any time throughout life. MtDNA is replicated by DNA polymerase gamma (Pol γ), twinkle helicase and mitochondr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::23854c34a5cf9919b307a1f17165d8c3
https://pubmed.ncbi.nlm.nih.gov/30157269
https://pubmed.ncbi.nlm.nih.gov/30157269
Publikováno v:
Human Molecular Genetics. 24:5184-5197
Human mitochondrial DNA (mtDNA) is replicated and repaired by the mtDNA polymerase gamma, polγ. Polγ is composed of three subunits encoded by two nuclear genes: (1) POLG codes for the 140-kilodalton (kDa) catalytic subunit, p140 and (2) POLG2 encod
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c03713a058d525f1d7a36d113a7e4039
https://doi.org/10.1093/hmg/ddv240
https://doi.org/10.1093/hmg/ddv240
Autor:
Karen L. DeBalsi, Karen I. Crain, Olga Ilkayeva, Michael Kinter, Robert Stevens, Sarah E. Seiler, Dorothy H. Slentz, C. Lawrence Kien, Catherine R. Mikus, Kari E. Wong, Deborah M. Muoio
Publikováno v:
Diabetes
This study used mice with muscle-specific overexpression of PGC-1α, a transcriptional coactivator that promotes mitochondrial biogenesis, to determine whether increased oxidative potential facilitates metabolic improvements in response to lifestyle
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::23ceb101519ca31a28acdd818de8ac43
http://europepmc.org/articles/PMC4407850
http://europepmc.org/articles/PMC4407850
Autor:
Deborah M. Muoio, Karen L. DeBalsi, Timothy R. Koves, Dorothy H. Slentz, Robert C. Noland, Ola J. Martin, Olga Ilkayeva, Sarah E. Seiler, Jie An, Christopher B. Newgard
Publikováno v:
Journal of Lipid Research, Vol 55, Iss 4, Pp 635-644 (2014)
Carnitine acetyltransferase (CrAT) is a mitochondrial matrix enzyme that catalyzes the interconversion of acetyl-CoA and acetylcarnitine. Emerging evidence suggests that this enzyme functions as a positive regulator of total body glucose tolerance an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2bfc7ccd7b26bc8d05fe34d5489ca8bc
http://www.sciencedirect.com/science/article/pii/S0022227520376537
http://www.sciencedirect.com/science/article/pii/S0022227520376537