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2013
Targeted exome sequencing of suspected mitochondrial disorders.Lieber, DS, Calvo SE, Shanahan K., Slate NG, Liu S., Hershman SG, Gold NB, Chapman BA, Thorburn DR, Berry GT, Schmahmann JD, Borowsky ML, Mueller DM, Sims KB, and Mootha VK Neurology, 2013/05/07, Volume 80, Issue 19, p.1762-1770, (2013) Read More / View Supplemental Materials
Abstract
Proteomic mapping of mitochondria in living cells via spatially restricted enzymatic tagging.Rhee, HW, Zou P., Udeshi ND, Martell JD, Mootha VK, Carr SA, and Ting AY Science (New York, N.Y.), 2013/03/15, Volume 339, Issue 6125, p.1328-31, (2013) Read More / View Supplemental Materials
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Complementary RNA and Protein Profiling Identifies Iron as a Key Regulator of Mitochondrial Biogenesis.Rensvold, JW, Ong SE, Jeevananthan A., Carr SA, Mootha VK, and Pagliarini DJ Cell reports, 2013/01/09, (2013) Read More / View Supplemental Materials
Abstract
MICU2, a Paralog of MICU1, Resides within the Mitochondrial Uniporter Complex to Regulate Calcium Handling.Plovanich, M., Bogorad RL, Sancak Y., Kamer KJ, Strittmatter L., Li AA, Girgis HS, Kuchimanchi S., De Groot J., Speciner L., Taneja N., Oshea J., Koteliansky V., and Mootha VK PloS one, 2013/01/01, Volume 8, Issue 2, p.e55785, (2013) Read More / View Supplemental Materials
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2012
Mitochondrial disorders as windows into an ancient organelle.Vafai, SB, and Mootha VK Nature, 2012/11/14, Volume 491, Issue 7424, p.374-383, (2012) Read More / View Supplemental Materials
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Metabolite profiling identifies a key role for glycine in rapid cancer cell proliferation.Jain, M., Nilsson R., Sharma S., Madhusudhan N., Kitami T., Souza AL, Kafri R., Kirschner MW, Clish CB, and Mootha VK Science (New York, N.Y.), 2012/05/25, Volume 336, Issue 6084, p.1040-4, (2012) Read More / View Supplemental Materials
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Evolutionary diversity of the mitochondrial calcium uniporter.Bick, AG, Calvo SE, and Mootha VK Science (New York, N.Y.), 2012/05/18, Volume 336, Issue 6083, p.886, (2012) Read More / View Supplemental Materials
Abstract
A Chemical Screen Probing the Relationship between Mitochondrial Content and Cell Size.Kitami, T., Logan DJ, Negri J., Hasaka T., Tolliday NJ, Carpenter AE, Spiegelman BM, and Mootha VK PloS one, 2012/01/01, Volume 7, Issue 3, p.e33755, (2012) Read More / View Supplemental Materials
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2011
Disease gene discovery through integrative genomics.Giallourakis, C., Henson C., Reich M., Xie X., and Mootha VK Annual review of genomics and human genetics, 2011/12/08, Volume 6, p.381-406, (2011) Read More / View Supplemental Materials
Abstract
Mutations in MTFMT underlie a human disorder of formylation causing impaired mitochondrial translation.Tucker, EJ, Hershman SG, Köhrer C., Belcher-Timme CA, Patel J., Goldberger OA, Christodoulou J., Silberstein JM, McKenzie M., Ryan MT, Compton AG, Jaffe JD, Carr SA, Calvo SE, RajBhandary UL, Thorburn DR, and Mootha VK Cell metabolism, 2011/09/07, Volume 14, Issue 3, p.428-34, (2011) Read More / View Supplemental Materials
Abstract
Integrative genomics identifies MCU as an essential component of the mitochondrial calcium uniporter.Baughman, JM, Perocchi F., Girgis HS, Plovanich M., Belcher-Timme CA, Sancak Y., Bao XR, Strittmatter L., Goldberger O., Bogorad RL, Koteliansky V., and Mootha VK Nature, 2011/06/19, Volume 476, Issue 7360, p.341-5, (2011) Read More / View Supplemental Materials
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Metabolite profiles and the risk of developing diabetes.Wang, TJ, Larson MG, Vasan RS, Cheng S., Rhee EP, McCabe E., Lewis GD, Fox CS, Jacques PF, Fernandez C., O'Donnell CJ, Carr SA, Mootha VK, Florez JC, Souza A., Melander O., Clish CB, and Gerszten RE Nature medicine, 2011/04/01, Volume 17, Issue 4, p.448-53, (2011) Read More / View Supplemental Materials
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2010
The mitochondrial proteome and human disease.Calvo, SE, and Mootha VK Annual review of genomics and human genetics, 2010/09/22, Volume 11, p.25-44, (2010) Read More / View Supplemental Materials
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MICU1 encodes a mitochondrial EF hand protein required for Ca(2+) uptake.Perocchi, F., Gohil VM, Girgis HS, Bao XR, McCombs JE, Palmer AE, and Mootha VK Nature, 2010/09/16, Volume 467, Issue 7313, p.291-6, (2010) Read More / View Supplemental Materials
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Common inherited variation in mitochondrial genes is not enriched for associations with type 2 diabetes or related glycemic traits.Segrè, AV, DIAGRAM Consortium, investigators MAGIC, Groop L., Mootha VK, Daly M. J., and Altshuler D. PLoS genetics, 2010/08/12, Volume 6, Issue 8, (2010) Read More / View Supplemental Materials
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Nutrient-sensitized screening for drugs that shift energy metabolism from mitochondrial respiration to glycolysis.Gohil, VM, Sheth SA, Nilsson R., Wojtovich AP, Lee JH, Perocchi F., Chen W., Clish CB, and Mootha VK Nature biotechnology, 2010/03/01, Volume 28, Issue 3, p.249-55, (2010) Read More / View Supplemental Materials
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A plasma signature of human mitochondrial disease revealed through metabolic profiling of spent media from cultured muscle cells.Shaham, O., Xu Q., Ramanathan A., Souza AL, Clish CB, and Mootha VK Proceedings of the National Academy of Sciences of the United States of America, 2010/01/26, Volume 107, Issue 4, p.1571-5, (2010) Read More / View Supplemental Materials
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2009
Upstream open reading frames cause widespread reduction of protein expression and are polymorphic among humans.Calvo, SE, Pagliarini DJ, and Mootha VK Proceedings of the National Academy of Sciences of the United States of America, 2009/05/05, Volume 106, Issue 18, p.7507-12, (2009) Read More / View Supplemental Materials
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2008
Metabolite profiling of blood from individuals undergoing planned myocardial infarction reveals early markers of myocardial injury.Lewis, GD, Wei R., Liu E., Yang E., Shi X., Martinovic M., Farrell L., Asnani A., Cyrille M., Ramanathan A., Shaham O., Berriz G., Lowry PA, Palacios IF, Taşan M., Roth FP, Min J., Baumgartner C., Keshishian H., Addona T., et al. The Journal of clinical investigation, 2008/10/01, Volume 118, Issue 10, p.3503-12, (2008) Read More / View Supplemental Materials
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A mitochondrial protein compendium elucidates complex I disease biology.Pagliarini, DJ, Calvo SE, Chang B., Sheth SA, Vafai SB, Ong SE, Walford GA, Sugiana C., Boneh A., Chen WK, Hill DE, Vidal M., Evans JG, Thorburn DR, Carr SA, and Mootha VK Cell, 2008/07/11, Volume 134, Issue 1, p.112-23, (2008) Read More / View Supplemental Materials
Abstract
Large-scale chemical dissection of mitochondrial function.Wagner, BK, Kitami T., Gilbert TJ, Peck D., Ramanathan A., Schreiber SL, Golub T. R., and Mootha VK Nature biotechnology, 2008/03/01, Volume 26, Issue 3, p.343-51, (2008) Read More / View Supplemental Materials
Abstract
Metabolic profiling of the human response to a glucose challenge reveals distinct axes of insulin sensitivity.Shaham, O., Wei R., Wang TJ, Ricciardi C., Lewis GD, Vasan RS, Carr SA, Thadhani R., Gerszten RE, and Mootha VK Molecular systems biology, 2008/01/01, Volume 4, p.214, (2008) Read More / View Supplemental Materials
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2006
Systematic identification of human mitochondrial disease genes through integrative genomics.Calvo, S., Jain M., Xie X., Sheth SA, Chang B., Goldberger OA, Spinazzola A., Zeviani M., Carr SA, and Mootha VK Nature genetics, 2006/05/01, Volume 38, Issue 5, p.576-82, (2006) Read More / View Supplemental Materials
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2005
Gene set enrichment analysis: a knowledge-based approach for interpreting genome-wide expression profiles.Subramanian, A., Tamayo P., Mootha VK, Mukherjee S., Ebert BL, Gillette MA, Paulovich A., Pomeroy SL, Golub T. R., Lander E. S., and Mesirov J. P. Proceedings of the National Academy of Sciences of the United States of America, 2005/10/25, Volume 102, Issue 43, p.15545-50, (2005) Read More / View Supplemental Materials
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2004
Erralpha and Gabpa/b specify PGC-1alpha-dependent oxidative phosphorylation gene expression that is altered in diabetic muscle.Mootha, VK, Handschin C., Arlow D., Xie X., St Pierre J., Sihag S., Yang W., Altshuler D., Puigserver P., Patterson N., Willy PJ, Schulman IG, Heyman RA, Lander E. S., and Spiegelman BM Proceedings of the National Academy of Sciences of the United States of America, 2004/04/27, Volume 101, Issue 17, p.6570-5, (2004) Read More / View Supplemental Materials
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  • Showing 1-25 of 25 Results