Now showing items 4-14 of 14

    • Compositional marker in vivo reveals intramyocellular lipid turnover during fasting-induced lipolysis 

      Thankamony, Ajay; Kemp, Graham J; Koulman, Albert; Bokii, Vlada; Savage, David Bousfield; Boesch, Chris; Hodson, Leanne et al. (Nature Publishing Group, 2018-02-09)
      Intramyocellular lipid (IMCL) is of particular metabolic interest, but despite many proton magnetic resonance spectroscopy (¹H MRS) studies reporting IMCL content measured by the methylene (CH₂) resonance signal, little ...
    • Constitutive Activation of AKT2 in Humans Leads to Hypoglycemia Without Fatty Liver or Metabolic Dyslipidemia 

      Minic, M; Rocha, N; Harris, J; Groeneveld, MP; Leiter, S; Wareham, Nicholas John; Sleigh, Alison et al. (Oxford University Press, 2017-05-23)
      $\textbf{Context:}$ The activating p.Glu17Lys mutation in AKT2, a kinase mediating many of insulin’s metabolic actions, causes hypoinsulinemic hypoglycemia and left-sided hemihypertrophy. The wider metabolic profile and ...
    • Human biallelic MFN2 mutations induce mitochondrial dysfunction, upper body adipose hyperplasia, and suppression of leptin expression 

      Rocha, Nuno Miguel; Bulger, DA; Frontini, A; Titheradge, H; Gribsholt, SB; Knox, R; Page, M et al. (eLife Sciences Publications Ltd, 2017-04-17)
      MFN2 encodes mitofusin 2, a membrane-bound mediator of mitochondrial membrane fusion and inter-organelle communication. MFN2 mutations cause axonal neuropathy, with associated lipodystrophy only occasionally noted, however ...
    • Insulin resistance uncoupled from dyslipidemia due to C-terminal PIK3R1 mutations 

      Huang-Doran, Isabel; Tomlinson, Patsy; Payne, Felicity; Gast, Alexandra; Sleigh, Alison; Bottomley, William; Harris, Julie et al. (American Society for Clinical Investigation, 2016-10-05)
      Obesity-related insulin resistance is associated with fatty liver, dyslipidemia, and low plasma adiponectin. Insulin resistance due to insulin receptor (INSR) dysfunction is associated with none of these, but when due to ...
    • Intrahepatic Lipid Content and Insulin Resistance Are More Strongly Associated with Impaired NEFA Suppression after Oral Glucose Loading Than with Fasting NEFA Levels in Healthy Older Individuals 

      Finucane, Francis M.; Sharp, Stephen J.; Hatunic, Mensud; Sleigh, Alison; De Lucia Rolfe, Ema; Sayer, Avan Aihie; Cooper, Cyrus et al. (2013-5-2)
      Introduction. The mechanisms underlying the association between insulin resistance and intrahepatic lipid (IHL) accumulation are not completely understood. We sought to determine whether this association was explained by ...
    • The metabolic syndrome- associated small G protein ARL15 plays a role in adipocyte differentiation and adiponectin secretion. 

      Rocha, Nuno Miguel; Payne, Felicity; Huang-Doran, Isabel; Sleigh, Alison; Fawcett, Katherine; Adams, Claire Louise; Stears, Anna et al. (Nature Publishing Group, 2017-12-14)
      Common genetic variants at the ARL15 locus are associated with plasma adiponectin, insulin and HDL cholesterol concentrations, obesity, and coronary atherosclerosis. The ARL15 gene encodes a small GTP-binding protein whose ...
    • ³¹P magnetization transfer measurements of Pi->ATP flux in exercising human muscle 

      Sleigh, Alison; Savage, David Bousfield; Williams, Guy Barnett; Porter, David; Carpenter, Thomas Adrian; Brindle, Kevin Michael; Kemp, Graham J (American Physiological Society, 2016)
      Fundamental criticisms have been made over the use of 31P-MRS magnetization transfer estimates of Pi->ATP flux (VPi-ATP) in human resting skeletal muscle for assessing mitochondrial function. Although the discrepancy in ...
    • Randomised controlled trial of the efficacy of aerobic exercise in reducing metabolic risk in healthy older people: The Hertfordshire Physical Activity Trial 

      Finucane, Francis M; Horton, Jessica; Purslow, Lisa R; Savage, David Bousfield; Brage, Soren; Besson, Herve; Horton, Kenneth et al. (2009-06-19)
      Abstract Background While there are compelling observational data confirming that individuals who exercise are healthier, the efficacy of aerobic exercise interventions to reduce metabolic risk and improve insulin sensitivity ...
    • Simple and effective exercise design for assessing in vivo mitochondrial function in clinical applications using 31P magnetic resonance spectroscopy 

      Sleigh, Alison; Lupson, Victoria; Thankamony, Ajay; Dunger, David Brian; Savage, David Bousfield; Carpenter, Thomas Adrian; Kemp, Graham J (Nature Publishing Group, 2016-01-11)
      The growing recognition of diseases associated with dysfunction of mitochondria poses an urgent need for simple measures of mitochondrial function. Assessment of the kinetics of replenishment of the phosphocreatine pool ...
    • Truncation of POC1A associated with short stature and extreme insulin resistance 

      Chen, Jian-Hua; Segni, Maria; Payne, Felicity; Huang-Doran, Isabel; Sleigh, Alison; Adams, Claire Louise; UK10K, Frances Lucy et al. (Bioscientifica, 2015-10-01)
      We describe a female proband with primordial dwarfism, skeletal dysplasia, facial dysmorphism, extreme dyslipidaemic insulin resistance and fatty liver associated with a novel homozygous frameshift mutation in POC1A, ...
    • Validity of visceral adiposity estimates from DXA against MRI in Kuwaiti men and women. 

      Mohammad, A; De, Lucia Rolfe Emanuella; Sleigh, Alison; Kivisild, Toomas; Behbehani, K; Wareham, Nicholas John; Brage, Soren et al. (Nature Publishing Group, 2017-01-09)
      ${\bf Objectives:}$ The prevalence of obesity and diabetes in the Middle East is amongst the highest in the world. Valid measures of abdominal adiposity are essential to understanding the metabolic consequences of obesity. ...