Zobrazeno 1 - 10
of 75
pro vyhledávání: '"Rebecca D. Ganetzky"'
Publikováno v:
Journal of Mass Spectrometry and Advances in the Clinical Lab, Vol 33, Iss , Pp 21- (2024)
Externí odkaz:
https://doaj.org/article/610062cc44534ff2a1c52db4874daa0c
Publikováno v:
Journal of Mass Spectrometry and Advances in the Clinical Lab, Vol 31, Iss , Pp 49-58 (2024)
Objectives: Ketone bodies (KBs) serve as important energy sources that spare glucose, providing the primary energy for cardiac muscle, skeletal muscle during aerobic exercise, and the brain during periods of catabolism. The levels and relationships b
Externí odkaz:
https://doaj.org/article/6f2bc733ab2b43dba15dc5f37dc417db
Autor:
Parith Wongkittichote, Sanmati R. Cuddapah, Stephen R. Master, Dorothy K. Grange, Dennis Dietzen, Stephen M. Roper, Rebecca D. Ganetzky
Publikováno v:
JIMD Reports, Vol 64, Iss 5, Pp 367-374 (2023)
Abstract Dihydrolipoamide dehydrogenase (DLD; E3) oxidizes lipoic acid. Restoring the oxidized state allows lipoic acid to act as a necessary electron sink for the four mitochondrial keto‐acid dehydrogenases: pyruvate dehydrogenase, alpha‐ketoglu
Externí odkaz:
https://doaj.org/article/78e25699a85f48dfa105ff6dbe8a8d83
Autor:
Jessica R.C. Priestley, Lisa M. Pace, Kuntal Sen, Anjali Aggarwal, Cesar Augusto P.F. Alves, Ian M. Campbell, Sanmati R. Cuddapah, Nicole M. Engelhardt, Marina Eskandar, Paloma C. Jolín García, Andrea Gropman, Ingo Helbig, Xinying Hong, Vykuntaraju K. Gowda, Laina Lusk, Pamela Trapane, Varunvenkat M. Srinivasan, Pim Suwannarat, Rebecca D. Ganetzky
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 33, Iss , Pp 100931- (2022)
Malate dehydrogenases (MDH) serve a critical role in maintaining equilibrium of the NAD+/NADH ratio between the mitochondria and cytosol through the catalysis of the oxidation of L-malate to oxaloacetate in a reversible, NADH-dependent manner. MDH2 e
Externí odkaz:
https://doaj.org/article/0c442fea3131425d94111374d304a8a9
Autor:
Jessica R. C. Priestley, Hana Alharbi, Katharine Press Callahan, Herodes Guzman, Irma Payan-Walters, Ligia Smith, Can Ficicioglu, Rebecca D. Ganetzky, Rebecca C. Ahrens-Nicklas
Publikováno v:
International Journal of Neonatal Screening, Vol 6, Iss 2, p 39 (2020)
Tyrosinemia type I (TT1) is an inborn error of tyrosine metabolism with features including liver dysfunction, cirrhosis, and hepatocellular carcinoma; renal dysfunction that may lead to failure to thrive and bone disease; and porphyric crises. Once f
Externí odkaz:
https://doaj.org/article/08630d920cd6486c840ff141d3a206fb
Autor:
Xingmin Feng, Phillip Scheinberg, Colin O. Wu, Leigh Samsel, Olga Nunez, Courtney Prince, Rebecca D. Ganetzky, J. Philip McCoy, Jaroslaw P. Maciejewski, Neal S. Young
Publikováno v:
Haematologica, Vol 96, Iss 4 (2011)
Although aplastic anemia and myelodysplasia have been extensively investigated, little is known about their circulating cytokine patterns. We compared plasma soluble cytokines in 33 aplastic anemia, 57 myelodysplasia patients, and 48 healthy controls
Externí odkaz:
https://doaj.org/article/6caa8226840140d0bacffd44e2c16969
Autor:
Parith Wongkittichote, Rebecca D Ganetzky, Matthew M Demczko, Xinying Hong, Miao He, Stephen R Master
Publikováno v:
Clinical Chemistry. 69:661-664
Publikováno v:
Clinical Chemistry. 69:564-582
Background Mitochondria are cytosolic organelles within most eukaryotic cells. Mitochondria generate the majority of cellular energy in the form of adenosine triphosphate (ATP) through oxidative phosphorylation (OxPhos). Pathogenic variants in mitoch
Autor:
Johanna, Elander, Elizabeth M, McCormick, Maria, Värendh, Karin, Stenfeldt, Rebecca D, Ganetzky, Amy, Goldstein, Zarazuela, Zolkipli-Cunningham, Laura E, MacMullen, Rui, Xiao, Marni J, Falk, Johannes K, Ehinger
Publikováno v:
Molecular Genetics and Metabolism. 137:230-238
In this retrospective cohort study of 193 consecutive subjects with primary mitochondrial disease (PMD) seen at the Children's Hospital of Philadelphia Mitochondrial Medicine Frontier Program, we assessed prevalence, severity, and time of onset of se
Autor:
Rebecca D. Ganetzky, Andrew L. Markhard, Irene Yee, Sheila Clever, Alan Cahill, Hardik Shah, Zenon Grabarek, Tsz-Leung To, Vamsi K. Mootha
Publikováno v:
New England Journal of Medicine. 387:1395-1403
We describe the case of identical twin boys who presented with low body weight despite excessive caloric intake. An evaluation of their fibroblasts showed elevated oxygen consumption and decreased mitochondrial membrane potential. Exome analysis reve