Now showing items 21-26 of 26

    • Mitochondrial dysfunction remodels one-carbon metabolism in human cells 

      Bao, Xiaoyan Robert; Ong, Shao-En; Goldberger, Olga; Peng, Jun; Sharma, Rohit; Thompson, Dawn A; Vafai, Scott B; Cox, Andrew G; Marutani, Eizo; Ichinose, Fumito; Goessling, Wolfram; Regev, Aviv; Carr, Steven A; Clish, Clary B; Mootha, Vamsi K (eLife Sciences Publications, Ltd, 2016)
      Mitochondrial dysfunction is associated with a spectrum of human disorders, ranging from rare, inborn errors of metabolism to common, age-associated diseases such as neurodegeneration. How these lesions give rise to diverse ...
    • Natural Product Screening Reveals Naphthoquinone Complex I Bypass Factors 

      Vafai, Scott B.; Mevers, Emily; Higgins, Kathleen W.; Fomina, Yevgenia; Zhang, Jianming; Mandinova, Anna; Newman, David; Shaw, Stanley Y.; Clardy, Jon; Mootha, Vamsi K. (Public Library of Science, 2016)
      Deficiency of mitochondrial complex I is encountered in both rare and common diseases, but we have limited therapeutic options to treat this lesion to the oxidative phosphorylation system (OXPHOS). Idebenone and menadione ...
    • Next generation sequencing with copy number variant detection expands the phenotypic spectrum of HSD17B4-deficiency 

      Lieber, Daniel S; Hershman, Steven G; Slate, Nancy G; Calvo, Sarah E; Sims, Katherine B; Schmahmann, Jeremy D; Mootha, Vamsi K (BioMed Central, 2014)
      Background: D-bifunctional protein deficiency, caused by recessive mutations in HSD17B4, is a severe, infantile-onset disorder of peroxisomal fatty acid oxidation. Few affected patients survive past two years of age. ...
    • Personal Genomics and Mitochondrial Disease 

      Hershman, Steven Gregory (2013-09-30)
      Mitochondrial diseases involving dysfunction of the respiratory chain are the most common inborn errors of metabolism. Mitochondria are found in all cell types besides red blood cells; consequently, patients can present ...
    • Statistical Methods for Large-Scale Integrative Genomics 

      Li, Yang (2016-05-12)
      In the past 20 years, we have witnessed a significant advance of high-throughput genetic and genomic technologies. With the massively generated genomics data, there is a pressing need for statistical methods that can utilize ...
    • TXNIP Regulates Peripheral Glucose Metabolism in Humans 

      Parikh, Hemang; Carlsson, Emma; Johansson, Lovisa E; Storgaard, Heidi; Poulsen, Pernille; Ladd, Christine; Schulze, P. Christian; Mazzini, Michael J; Jensen, Christine Bjørn; Krook, Anna; Björnholm, Marie; Tornqvist, Hans; Zierath, Juleen R; Ridderstråle, Martin; Vaag, Allan; Groop, Leif C; Chutkow, William Alexander; Saxena, Richa; Altshuler, David Matthew; Lee, Richard Theodore; Mootha, Vamsi Krishna (Public Library of Science, 2007)
      Background: Type 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 natural history of ...