Now showing items 1-20 of 26

    • Architecture of the Mitochondrial Calcium Uniporter 

      Oxenoid, Kirill; Dong, Ying; Cao, Chan; Cui, Tanxing; Sancak, Yasemin; Markhard, Andrew L.; Grabarek, Zenon; Kong, Liangliang; Liu, Zhijun; Ouyang, Bo; Cong, Yao; Mootha, Vamsi K.; Chou, James J. (2016)
      Mitochondria from multiple, eukaryotic clades uptake and buffer large amounts of calcium (Ca2+) via an inner membrane transporter called the uniporter. Early studies demonstrated that this transport requires a mitochondrial ...
    • Associations between plasma branched-chain amino acids, β-aminoisobutyric acid and body composition 

      Rietman, Annemarie; Stanley, Takara L.; Clish, Clary; Mootha, Vamsi; Mensink, Marco; Grinspoon, Steven K.; Makimura, Hideo (Cambridge University Press, 2016)
      Plasma branched-chain amino acids (BCAA) are elevated in obesity and associated with increased cardiometabolic risk. β-Aminoisobutyric acid (B-AIBA), a recently identified small molecule metabolite, is associated with ...
    • Atypical Case Of Wolfram Syndrome Revealed Through Targeted Exome Sequencing In A Patient With Suspected Mitochondrial Disease 

      Lieber, Daniel Solomon; Vafai, Scott Bradley; Horton, Laura C; Slate, Nancy G; Liu, Shangtao; Borowsky, Mark L; Calvo, Sarah E; Schmahmann, Jeremy Dan; Mootha, Vamsi Krishna (BioMed Central, 2012)
      Background: Mitochondrial diseases comprise a diverse set of clinical disorders that affect multiple organ systems with varying severity and age of onset. Due to their clinical and genetic heterogeneity, these diseases are ...
    • A Chemical Screen Probing the Relationship between Mitochondrial Content and Cell Size 

      Kitami, Toshimori; Logan, David J.; Negri, Joseph Michael; Hasaka, Thomas; Tolliday, Nicola J.; Carpenter, Anne E.; Spiegelman, Bruce Michael; Mootha, Vamsi Krishna (Public Library of Science, 2012)
      The cellular content of mitochondria changes dynamically during development and in response to external stimuli, but the underlying mechanisms remain obscure. To systematically identify molecular probes and pathways that ...
    • Common Inherited Variation in Mitochondrial Genes Is Not Enriched for Associations with Type 2 Diabetes or Related Glycemic Traits 

      Segrè, Ayellet V.; Groop, Leif; Mootha, Vamsi Krishna; Daly, Mark Joseph; Altshuler, David Matthew (Public Library of Science, 2010)
      Mitochondrial dysfunction has been observed in skeletal muscle of people with diabetes and insulin-resistant individuals. Furthermore, inherited mutations in mitochondrial DNA can cause a rare form of diabetes. However, ...
    • Computational and Experimental Approaches For Evaluating the Genetic Basis of Mitochondrial Disorders 

      Lieber, Daniel Solomon (2013-10-08)
      Mitochondria are responsible for many fundamental biological pathways and metabolic processes, including aerobic ATP production by the mitochondrial respiratory chain. In humans, mitochondrial dysfunction can lead to severe ...
    • A Computational Screen for Regulators of Oxidative Phosphorylation Implicates SLIRP in Mitochondrial RNA Homeostasis 

      Baughman, Joshua M.; Nilsson, Roland; Gohil, Vishal; Arlow, Daniel H.; Gauhar, Zareen; Mootha, Vamsi Krishna (Public Library of Science, 2009)
      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. While the core protein ...
    • Discovery of Genes Essential for Heme Biosynthesis through Large-Scale Gene Expression Analysis 

      Nilsson, Roland; Schultz, Iman J.; Pierce, Eric Adam; Soltis, Kathleen A.; Naranuntarat, Amornrat; Ward, Diane M.; Baughman, Joshua M.; Paradkar, Prasad N.; Kingsley, Paul D.; Culotta, Valeria C.; Kaplan, Jerry B.; Palis, James; Paw, Barry Htin; Mootha, Vamsi Krishna (Elsevier BV, 2009)
      Heme biosynthesis consists of a series of eight enzymatic reactions that originate in mitochondria and continue in the cytosol before returning to mitochondria. Although these core enzymes are well studied, additional ...
    • Engineered ascorbate peroxidase as a genetically-encoded reporter for electron microscopy 

      Martell, Jeffrey D.; Deerinck, Thomas J.; Sancak, Yasemin; Poulos, Thomas L.; Mootha, Vamsi K.; Sosinsky, Gina E.; Ellisman, Mark H.; Ting, Alice Y. (2013)
      Electron microscopy (EM) is the standard method for imaging cellular structures with nanometer resolution, but existing genetic tags are inactive in most cellular compartments1 or require light and are difficult to use2. ...
    • Expansion of Biological Pathways Based on Evolutionary Inference 

      Li, Yang; Calvo, Sarah E; Gutman, Roee; Liu, Jun; Mootha, Vamsi Krishna (Elsevier BV, 2014)
      The availability of diverse genomes makes it possible to predict gene function based on shared evolutionary history. This approach can be challenging, however, for pathways whose components do not exhibit a shared history ...
    • Genetic and Functional Studies of Non-Coding Variants in Human Disease 

      Alston, Jessica Shea (2013-03-08)
      Genome-wide association studies (GWAS) of common diseases have identified hundreds of genomic regions harboring disease-associated variants. Translating these findings into an improved understanding of human disease requires ...
    • Homozygous deletion in MICU1 presenting with fatigue and lethargy in childhood 

      Lewis-Smith, David; Kamer, Kimberli J.; Griffin, Helen; Childs, Anne-Marie; Pysden, Karen; Titov, Denis; Duff, Jennifer; Pyle, Angela; Taylor, Robert W.; Yu-Wai-Man, Patrick; Ramesh, Venkateswaran; Horvath, Rita; Mootha, Vamsi K.; Chinnery, Patrick F. (Wolters Kluwer, 2016)
      Objective: To define the mechanism responsible for fatigue, lethargy, and weakness in 2 cousins who had a normal muscle biopsy. Methods: Exome sequencing, long-range PCR, and Sanger sequencing to identify the pathogenic ...
    • Leveraging genomic approaches to characterize mitochondrial RNA biology 

      Wolf, Ashley Robin (2014-06-06)
      Transcription and translation of mammalian mitochondrial DNA (mtDNA) occurs within the mitochondrial matrix to produce oxidative phosphorylation subunits required for efficient energy production. These mtDNA-encoded subunits ...
    • Linking Human Genetic Variation to Mitochondrial Metabolism 

      Strittmatter, Laura Anne (2014-06-06)
      Genetic variation has a powerful impact on human metabolism and disease. Traditionally, this relationship has either been studied at a high level using top-down descriptive studies of patients with genetically defined ...
    • MCU encodes the pore conducting mitochondrial calcium currents 

      Chaudhuri, Dipayan; Sancak, Yasemin; Mootha, Vamsi K; Clapham, David E (eLife Sciences Publications, Ltd, 2013)
      Mitochondrial calcium (Ca2+) import is a well-described phenomenon regulating cell survival and ATP production. Of multiple pathways allowing such entry, the mitochondrial Ca2+ uniporter is a highly Ca2+-selective channel ...
    • Meclizine Preconditioning Protects the Kidney Against Ischemia–Reperfusion Injury 

      Kishi, Seiji; Campanholle, Gabriela; Gohil, Vishal M.; Perocchi, Fabiana; Brooks, Craig R.; Morizane, Ryuji; Sabbisetti, Venkata; Ichimura, Takaharu; Mootha, Vamsi K.; Bonventre, Joseph V. (Elsevier, 2015)
      Global or local ischemia contributes to the pathogenesis of acute kidney injury (AKI). Currently there are no specific therapies to prevent AKI. Potentiation of glycolytic metabolism and attenuation of mitochondrial ...
    • Metabolic enzyme expression highlights a key role for MTHFD2 and the mitochondrial folate pathway in cancer 

      Nilsson, Roland; Jain, Mohit; Madhusudhan, Nikhil; Sheppard, Nina Gustafsson; Strittmatter, Laura; Kampf, Caroline; Huang, Jenny; Asplund, Anna; Mootha, Vamsi K (2014)
      Metabolic remodeling is now widely regarded as a hallmark of cancer, but it is not clear whether individual metabolic strategies are frequently exploited by many tumours. Here we compare messenger RNA profiles of 1,454 ...
    • A Metabolic Signature of Mitochondrial Dysfunction Revealed through a Monogenic Form of Leigh Syndrome 

      Thompson Legault, Julie; Strittmatter, Laura; Tardif, Jessica; Sharma, Rohit; Tremblay-Vaillancourt, Vanessa; Aubut, Chantale; Boucher, Gabrielle; Clish, Clary B.; Cyr, Denis; Daneault, Caroline; Waters, Paula J.; Vachon, Luc; Morin, Charles; Laprise, Catherine; Rioux, John D.; Mootha, Vamsi K.; Des Rosiers, Christine (2015)
      SUMMARY A decline in mitochondrial respiration represents the root cause of a large number of inborn errors of metabolism. It is also associated with common age-associated diseases and the aging process. To gain insight ...
    • MICU2, a Paralog of MICU1, Resides within the Mitochondrial Uniporter Complex to Regulate Calcium Handling 

      Plovanich, Molly Elizabeth; Bogorad, Roman L.; Sancak, Yasemin; Kamer, Kimberli Jean; Strittmatter, Laura Anne; Li, Andrew Amos; Girgis, Hany S.; Kuchimanchi, Satya; De Groot, Jack; Speciner, Lauren; Taneja, Nathan; OShea, Jonathan; Koteliansky, Victor; Mootha, Vamsi Krishna (Public Library of Science, 2013)
      Mitochondrial calcium uptake is present in nearly all vertebrate tissues and is believed to be critical in shaping calcium signaling, regulating ATP synthesis and controlling cell death. Calcium uptake occurs through a ...
    • MitoCarta2.0: an updated inventory of mammalian mitochondrial proteins 

      Calvo, Sarah E.; Clauser, Karl R.; Mootha, Vamsi K. (Oxford University Press, 2016)
      Mitochondria are complex organelles that house essential pathways involved in energy metabolism, ion homeostasis, signalling and apoptosis. To understand mitochondrial pathways in health and disease, it is crucial to have ...