A plasma signature of human mitochondrial disease revealed through metabolic profiling of spent media from cultured muscle cells

by Shaham, Oded, Slate, Nancy G., Goldberger, Olga A., Xu, Qiuwei, Ramanathan, Arvind, Souza, Amanda, Clish, Clary, Sims, Katherine, Mootha, Vamsi K.
Published 2011

Mutations in MTFMT Underlie a Human Disorder of Formylation Causing Impaired Mitochondrial Translation

by Tucker, Elena J, Hershman, Steven G, Belcher-Timme, Casey A, Patel, Jinal, Goldberger, Olga A., Christodoulou, John, Silberstein, Jonathon M, McKenzie, Matthew, Ryan, Michael T, Compton, Alison G, Jaffe, Jacob D., Carr, Steven A., Calvo, Sarah E., RajBhandary, Uttam L, Thorburn, David R, Mootha, Vamsi K., Koehrer, Caroline
Published 2014