Resource A Mammalian Organelle Map by Protein Correlation Profiling (2009)
Leonard J. Foster, Yanling Zhang, Yong Zhang, Xiaohui Xie, Vamsi K. Mootha, ...
Protein localization to membrane-enclosed organelles is a central feature of cellular organization. Using protein correlation profiling, we have mapped 1,404 proteins to ten subcellular locations in...
TXNIP Regulates Peripheral Glucose Metabolism in Humans (2007)
Hemang Parikh, Emma Carlsson, William A. Chutkow, Lovisa E. Johansson, Heidi Storgaard, Pernille Poulsen, ...
BackgroundType 2 diabetes mellitus (T2DM) is characterized by defects in insulin secretion and action. Impaired glucose uptake in skeletal muscle is believed to be one of the earliest features in the...
tBID, a membrane-targeted death ligand, oligomerizes BAK to release cytochrome c (2000)
Wei, Michael C., Lindsten, Tullia, Mootha, Vamsi K., Weiler, Solly, Gross, Atan, Ashiya, Mona, ...
Identification of a gene causing human cytochrome c oxidase deficiency by integrative genomics
Mootha, Vamsi K., Lepage, Pierre, Miller, Kathleen, Bunkenborg, Jakob, Reich, Michael, Hjerrild, Majbrit, ...
Identifying the genes responsible for human diseases requires combining information about gene position with clues about biological function. The recent availability of whole-genome data sets of RNA...
Mootha, Vamsi K., Wei, Michael C., Buttle, Karolyn F., Scorrano, Luca, Panoutsakopoulou, Vily, Mannella, Carmen A., ...
Multiple apoptotic pathways release cytochrome c from the mitochondrial intermembrane space, resulting in the activation of downstream caspases. In vivo activation of Fas (CD95) resulted in...
tBID, a membrane-targeted death ligand, oligomerizes BAK to release cytochrome c
Wei, Michael C., Lindsten, Tullia, Mootha, Vamsi K., Weiler, Solly, Gross, Atan, Ashiya, Mona, ...
TNFR1/Fas engagement results in the cleavage of cytosolic BID to truncated tBID, which translocates to mitochondria. Immunodepletion and gene disruption indicate BID is required for cytochrome c...
Mootha, Vamsi K., Handschin, Christoph, Arlow, Dan, Xie, Xiaohui, St. Pierre, Julie, Sihag, Smita, ...
Recent studies have shown that genes involved in oxidative phosphorylation (OXPHOS) exhibit reduced expression in skeletal muscle of diabetic and prediabetic humans. Moreover, these changes may be...
Subramanian, Aravind, Tamayo, Pablo, Mootha, Vamsi K., Mukherjee, Sayan, Ebert, Benjamin L., Gillette, Michael A., ...
Although genomewide RNA expression analysis has become a routine tool in biomedical research, extracting biological insight from such information remains a major challenge. Here, we describe a...
Building an Application Framework for Integrative Genomics
Ray, Heta N., Mootha, Vamsi K., Boxwala, Aziz A.
The accelerated pace of biological research and the current availability of whole-genome data sets provides significant new sources of functional insight. We designed an architecture and framework...
Identification of a gene causing human cytochrome c oxidase deficiency by integrative genomics
Mootha, Vamsi K., Lepage, Pierre, Miller, Kathleen, Bunkenborg, Jakob, Reich, Michael, Hjerrild, Majbrit, ...
Identifying the genes responsible for human diseases requires combining information about gene position with clues about biological function. The recent availability of whole-genome data sets of RNA...
Mootha, Vamsi K., Wei, Michael C., Buttle, Karolyn F., Scorrano, Luca, Panoutsakopoulou, Vily, Mannella, Carmen A., ...
Multiple apoptotic pathways release cytochrome c from the mitochondrial intermembrane space, resulting in the activation of downstream caspases. In vivo activation of Fas (CD95) resulted in...
tBID, a membrane-targeted death ligand, oligomerizes BAK to release cytochrome c
Wei, Michael C., Lindsten, Tullia, Mootha, Vamsi K., Weiler, Solly, Gross, Atan, Ashiya, Mona, ...
TNFR1/Fas engagement results in the cleavage of cytosolic BID to truncated tBID, which translocates to mitochondria. Immunodepletion and gene disruption indicate BID is required for cytochrome c...
Mootha, Vamsi K., Handschin, Christoph, Arlow, Dan, Xie, Xiaohui, St. Pierre, Julie, Sihag, Smita, ...
Recent studies have shown that genes involved in oxidative phosphorylation (OXPHOS) exhibit reduced expression in skeletal muscle of diabetic and prediabetic humans. Moreover, these changes may be...
Subramanian, Aravind, Tamayo, Pablo, Mootha, Vamsi K., Mukherjee, Sayan, Ebert, Benjamin L., Gillette, Michael A., ...
Although genomewide RNA expression analysis has become a routine tool in biomedical research, extracting biological insight from such information remains a major challenge. Here, we describe a...
Building an Application Framework for Integrative Genomics
Ray, Heta N., Mootha, Vamsi K., Boxwala, Aziz A.
The accelerated pace of biological research and the current availability of whole-genome data sets provides significant new sources of functional insight. We designed an architecture and framework...
TXNIP Regulates Peripheral Glucose Metabolism in Humans
Parikh, Hemang, Carlsson, Emma, Chutkow, William A, Johansson, Lovisa E, Storgaard, Heidi, Poulsen, Pernille, ...
Vamsi Mootha, Leif Groop, and colleagues report that TXNIP regulates insulin-dependent and -independent pathways of glucose uptake in human skeletal muscle and that its expression is elevated in...
Handschin, Christoph, Choi, Cheol Soo, Chin, Sherry, Kim, Sheene, Kawamori, Dan, Kurpad, Amarnath J., ...
The transcriptional coactivator PPARγ coactivator 1α (PGC-1α) is a strong activator of mitochondrial biogenesis and oxidative metabolism. While expression of PGC-1α and many of its mitochondrial...
Shaham, Oded, Wei, Ru, Wang, Thomas J, Ricciardi, Catherine, Lewis, Gregory D, Vasan, Ramachandran S, ...
Glucose ingestion after an overnight fast triggers an insulin-dependent, homeostatic program that is altered in diabetes. The full spectrum of biochemical changes associated with this transition is...
Lewis, Gregory D., Wei, Ru, Liu, Emerson, Yang, Elaine, Shi, Xu, Martinovic, Maryann, ...
Emerging metabolomic tools have created the opportunity to establish metabolic signatures of myocardial injury. We applied a mass spectrometry–based metabolite profiling platform to 36 patients...
Mutation of C20orf7 Disrupts Complex I Assembly and Causes Lethal Neonatal Mitochondrial Disease
Sugiana, Canny, Pagliarini, David J., McKenzie, Matthew, Kirby, Denise M., Salemi, Renato, Abu-Amero, Khaled K., ...
Complex I (NADH:ubiquinone oxidoreductase) is the first and largest multimeric complex of the mitochondrial respiratory chain. Human complex I comprises seven subunits encoded by mitochondrial DNA...
Calvo, Sarah E., Pagliarini, David J., Mootha, Vamsi K.
Upstream ORFs (uORFs) are mRNA elements defined by a start codon in the 5′ UTR that is out-of-frame with the main coding sequence. Although uORFs are present in approximately half of human and...
Baughman, Joshua M., Nilsson, Roland, Gohil, Vishal M., Arlow, Daniel H., Gauhar, Zareen, Mootha, Vamsi K.
The human oxidative phosphorylation (OxPhos) system consists of approximately 90 proteins encoded by nuclear and mitochondrial genomes and serves as the primary cellular pathway for ATP biosynthesis....