Search Results - "Mootha, V. K."

Coenzyme Q deficiency and cerebellar ataxia associated with an aprataxin mutation by QUINZII, C. M, KATTAH, A. G, NAINI, A, AKMAN, H. O, MOOTHA, V. K, DIMAURO, S, HIRANO, M

“…Primary muscle coenzyme Q10 (CoQ10) deficiency is an apparently autosomal recessive condition with heterogeneous clinical presentations. Patients with these…”
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Circulating branched-chain amino acid concentrations are associated with obesity and future insulin resistance in children and adolescents by McCormack, S. E., Shaham, O., McCarthy, M. A., Deik, A. A., Wang, T. J., Gerszten, R. E., Clish, C. B., Mootha, V. K., Grinspoon, S. K., Fleischman, A.

“…Summary What is already known about this subject Circulating concentrations of branched‐chain amino acids (BCAAs) can affect carbohydrate metabolism in…”
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A reversible component of mitochondrial respiratory dysfunction in apoptosis can be rescued by exogenous cytochrome c by Mootha, Vamsi K., Wei, Michael C., Buttle, Karolyn F., Scorrano, Luca, Panoutsakopoulou, Vily, Mannella, Carmen A., Korsmeyer, Stanley J.

“…Multiple apoptotic pathways release cytochrome c from the mitochondrial intermembrane space, resulting in the activation of downstream caspases. In vivo…”
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Maximum oxidative phosphorylation capacity of the mammalian heart by Mootha, V K, Arai, A E, Balaban, R S

“…It is difficult to estimate the maximum in vivo aerobic ATP production rate of the intact heart independent of limitations imposed by blood flow, oxygen…”
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Mitochondrial clearance of calcium facilitated by MICU2 controls insulin secretion by Vishnu, N., Hamilton, A., Bagge, A., Wernersson, A., Cowan, E., Barnard, H., Sancak, Y., Kamer, K.J., Spégel, P., Fex, M., Tengholm, A., Mootha, V.K., Nicholls, D.G., Mulder, H.

“…Transport of Ca2+ into pancreatic β cell mitochondria facilitates nutrient-mediated insulin secretion. However, the underlying mechanism is unclear. Recent…”
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PGC-1α-responsive genes involved in oxidative phosphorylation are coordinately downregulated in human diabetes by Altshuler, David, Groop, Leif C, Mootha, Vamsi K, Lindgren, Cecilia M, Eriksson, Karl-Fredrik, Subramanian, Aravind, Sihag, Smita, Lehar, Joseph, Puigserver, Pere, Carlsson, Emma, Ridderstråle, Martin, Laurila, Esa, Houstis, Nicholas, Daly, Mark J, Patterson, Nick, Mesirov, Jill P, Golub, Todd R, Tamayo, Pablo, Spiegelman, Bruce, Lander, Eric S, Hirschhorn, Joel N

“…DNA microarrays can be used to identify gene expression changes characteristic of human disease. This is challenging, however, when relevant differences are…”
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Defects in Adaptive Energy Metabolism with CNS-Linked Hyperactivity in PGC-1α Null Mice by Lin, Jiandie, Wu, Pei-Hsuan, Tarr, Paul T., Lindenberg, Katrin S., St-Pierre, Julie, Zhang, Chen-yu, Mootha, Vamsi K., Jäger, Sibylle, Vianna, Claudia R., Reznick, Richard M., Cui, Libin, Manieri, Monia, Donovan, Mi X., Wu, Zhidan, Cooper, Marcus P., Fan, Melina C., Rohas, Lindsay M., Zavacki, Ann Marie, Cinti, Saverio, Shulman, Gerald I., Lowell, Bradford B., Krainc, Dimitri, Spiegelman, Bruce M.

“…PGC-1α is a coactivator of nuclear receptors and other transcription factors that regulates several metabolic processes, including mitochondrial biogenesis and…”
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Integrated Analysis of Protein Composition, Tissue Diversity, and Gene Regulation in Mouse Mitochondria by Mootha, Vamsi K., Bunkenborg, Jakob, Olsen, Jesper V., Hjerrild, Majbrit, Wisniewski, Jacek R., Stahl, Erich, Bolouri, Marjan S., Ray, Heta N., Sihag, Smita, Kamal, Michael, Patterson, Nick, Lander, Eric S., Mann, Matthias

“…Mitochondria are tailored to meet the metabolic and signaling needs of each cell. To explore its molecular composition, we performed a proteomic survey of…”
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Errα and Gabpa/b Specify PGC-1α-Dependent Oxidative Phosphorylation Gene Expression That Is Altered in Diabetic Muscle by Mootha, Vamsi K., Handschin, Christoph, Arlow, Dan, Xie, Xiaohui, St. Pierre, Julie, Sihag, Smita, Yang, Wenli, Altshuler, David, Puigserver, Pere, Patterson, Nick, Willy, Patricia J., Schulman, Ira G., Heyman, Richard A., Lander, Eric S., Spiegelman, Bruce M.

“…Recent studies have shown that genes involved in oxidative phosphorylation (OXPHOS) exhibit reduced expression in skeletal muscle of diabetic and prediabetic…”
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tBID, a membrane-targeted death ligand, oligomerizes BAK to release cytochrome c by Wei, M C, Lindsten, T, Mootha, V K, Weiler, S, Gross, A, Ashiya, M, Thompson, C B, Korsmeyer, S J

“…TNFR1/Fas engagement results in the cleavage of cytosolic BID to truncated tBID, which translocates to mitochondria. Immunodepletion and gene disruption…”
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Identification of a Gene Causing Human Cytochrome c Oxidase Deficiency by Integrative Genomics by Mootha, Vamsi K., Lepage, Pierre, Miller, Kathleen, Bunkenborg, Jakob, Reich, Michael, Hjerrild, Majbrit, Delmonte, Terrye, Villeneuve, Amelie, Sladek, Robert, Xu, Fenghao, Mitchell, Grant A., Morin, Charles, Mann, Matthias, Hudson, Thomas J., Robinson, Brian, Rioux, John D., Lander, Eric S.

“…Identifying the genes responsible for human diseases requires combining information about gene position with clues about biological function. The recent…”
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Meclizine is neuroprotective in models of Huntington's disease by GOHIL, Vishal M, OFFNER, Nicolas, WALKER, James A, SHETH, Sunil A, FOSSALE, Elisa, GUSELLA, James F, MACDONALD, Marcy E, NERI, Christian, MOOTHA, Vamsi K

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Medical thoracoscopy for undiagnosed pleural effusions: experience from a tertiary care hospital in north India by Mootha, V K, Agarwal, R, Singh, N, Aggarwal, A N, Gupta, D, Jindal, S K

“…Medical thoracoscopy, also called pleuroscopy, has received renewed interest in the recent past for diagnostic as well as therapeutic uses. In this study, we…”
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Disease gene discovery through integrative genomics by Giallourakis, Cosmas, Henson, Charlotte, Reich, Michael, Xie, Xiaohui, Mootha, Vamsi K

“…The availability of complete genome sequences and the wealth of large-scale biological data sets now provide an unprecedented opportunity to elucidate the…”
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A novel mitochondrial tRNAPhe mutation causes MERRF syndrome by MANCUSO, M, FILOSTO, M, MOOTHA, V. K, ROCCHI, A, PISTOLESI, S, MURRI, L, DIMAURO, S, SICILIANO, G

“…A woman with typical features of myoclonic epilepsy with ragged red fibers (MERRF) had a novel heteroplasmic mutation (G611A) in the mitochondrial DNA tRNA…”
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Assessment of uncoupling activity of uncoupling protein 3 using a yeast heterologous expression system by Zhang, Chen-Yu, Hagen, Thilo, Mootha, Vamsi K, Slieker, Lawrence J, Lowell, Bradford B

“…Uncoupling protein 3L, uncoupling protein 1 and the mitochondrial oxoglutarate carrier were expressed in Saccharomyces cerevisae. Effects on different…”
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A Mitochondrial Protein Compendium Elucidates Complex I Disease Biology by Pagliarini, David J., Calvo, Sarah E., Chang, Betty, Sheth, Sunil A., Vafai, Scott B., Ong, Shao-En, Walford, Geoffrey A., Sugiana, Canny, Boneh, Avihu, Chen, William K., Hill, David E., Vidal, Marc, Evans, James G., Thorburn, David R., Carr, Steven A., Mootha, Vamsi K.

“…Mitochondria are complex organelles whose dysfunction underlies a broad spectrum of human diseases. Identifying all of the proteins resident in this organelle…”
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Pheochromocytoma-induced cardiomyopathy by Mootha, V K, Feldman, J, Mannting, F, Winters, G L, Johnson, W

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Spectroscopic Determination of Cytochrome c Oxidase Content in Tissues Containing Myoglobin or Hemoglobin by Balaban, Robert S., Mootha, Vamsi K., Arai, Andrew

“…A simple spectroscopic method for determining the cytochrome c oxidase, cytochrome a, a3, content in tissue and mitochondria samples independent of myoglobin…”
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Next-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletions by RONCHI, Dario, GARONE, Caterina, CORTI, Stefania, BRESOLIN, Nereo, MOOTHA, Vamsi K, MOGGIO, Maurizio, DIMAURO, Salvatore, COMI, Giacomo P, SCIACCO, Monica, BORDONI, Andreina, GUTIERREZ RIOS, Purificacion, CALVO, Sarah E, RIPOLONE, Michela, RANIERI, Michela, RIZZUTI, Mafalda, VILLA, Luisa, MAGRI, Francesca

“…The molecular diagnosis of mitochondrial disorders still remains elusive in a large proportion of patients, but advances in next generation sequencing are…”
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