Mutations in MTFMT Underlie a Human Disorder of Formylation Causing Impaired Mitochondrial Translation
Elena J Tucker, Steven G Hershman, Caroline Koehrer, Casey A Belcher-Timme, Jinal Patel, Olga A Goldberger, John Christodoulou, Jonathon M Silberstein, Matthew McKenzie, Michael T Ryan, Alison G Compton, Jacob D Jaffe, Steven A Carr, Sarah E Calvo, Uttam L RajBhandary, David R Thorburn, Vamsi K Mootha
Cell Metabolism | CELL PRESS | Published : 2011
Awarded by National Institutes of Health
We thank J. Silke and P. Ekert for providing the pF_5x_UAS_MCS_SV40_puroGEV16-W vector, C. Guiducci, C. Sougnez, L. Ambrogia, and J. Wilkinson, for assistance with sample preparation and sequencing, T. Fennel, M. DePristo, E. Banks, and K. Garimella for assistance with bioinformatic analysis, S. Flynn for assistance with IRBs, and the subjects and referring physicians who participated in the study. This work was supported by an Australian Postgraduate Award to E.J.T., a National Defense Science and Engineering Graduate Fellowship to S.G.H., an Australian National Health and Medical Research Council (NHMRC) Career Development Award to M.M., an NHMRC Principal Research fellowship to D.R.T., the Victorian Government's Operational Infrastructure Support Program, and grants from the Ramaciotti Foundation and the James and Vera Lawson Trust to M.M., the NHMRC to MM., M.T.R. and D.R.T., and the National Institutes of Health to U.L.R. (GM17151) and to V.K.M. (GM077465 and GM097136).