|1.||Spiekerkoetter, Ute: 4 articles (07/2015 - 11/2010)|
|2.||Strauss, Arnold W: 4 articles (02/2014 - 09/2003)|
|3.||Tucci, Sara: 3 articles (07/2015 - 11/2010)|
|4.||Wanders, Ronald J A: 3 articles (01/2015 - 07/2004)|
|5.||Wood, Philip A: 3 articles (05/2010 - 10/2007)|
|6.||Tian, Liqun: 3 articles (05/2010 - 10/2007)|
|7.||Spiekerkoetter, U: 3 articles (08/2009 - 05/2003)|
|8.||Wendel, U: 3 articles (08/2009 - 05/2003)|
|9.||Matern, Dietrich: 3 articles (03/2009 - 08/2006)|
|10.||Exil, Vernat J: 3 articles (05/2007 - 09/2003)|
|1.||Cytochrome-c Oxidase Deficiency
01/01/1992 - "Cytochrome c oxidase deficiency and long-chain acyl coenzyme A dehydrogenase deficiency with Leigh's subacute necrotizing encephalomyelopathy."
01/01/1993 - "To confirm the specificity of these studies in differentiating primary from secondary carnitine deficiency disorders, we have studied carnitine uptake in the cultured skin fibroblasts from 5 children who have various enzymatic defects in intramitochondrial beta-oxidation including short-chain, medium-chain and long-chain acyl-CoA dehydrogenase and short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiencies, and in 4 children with cytochrome oxidase deficiency. "
05/05/2010 - "The increased insulin sensitivity in the VLCAD(-/-) mice were protected from diet-induced obesity and insulin resistance due to chronic activation of AMPK and PPARalpha, resulting in increased fatty acid oxidation and decreased intramyocellular and hepatocellular diacylglycerol content."
05/05/2010 - "Paradoxically, mice with an inherited deficiency of the mitochondrial fatty acid oxidation enzyme, very long-chain acyl-CoA dehydrogenase (VLCAD), were protected from high-fat diet-induced obesity and liver and muscle insulin resistance. "
01/01/2012 - "RT-PCR studies showed that ASP (like ELE with known anti-obesity effects) diminished isocitrate dehydrogenase 3α, NADH dehydrogenase flavoprotein 1 (Comp I) mRNA and fatty acid synthase levels (white adipose tissue), increased carnitine palmitoyltransferase 1α and acyl-CoA dehydrogenase, very-long-chain mRNA levels (liver), and increased Glut4, citrate synthase, isocitrate dehydrogenase 3α, succinyl CoA synthase, peroxisomal 3-ketoacyl-CoA thiolase, dihydrolipoamide succinyl transferase and succinate dehydrogenase mRNA levels (skeletal muscle) under HFD conditions. "
|3.||Heart Diseases (Heart Disease)
01/01/2014 - "This study demonstrates significant toxicity of especially those fatty acid species in vitro that significantly accumulate in fatty acid oxidation defects presenting with cardiac disease such as very long-chain acyl-CoA dehydrogenase, carnitine acylcarnitine translocase and carnitine palmitoyl-CoA transferase deficiencies. "
12/01/1998 - "Acute, severe cardiomyopathy as main symptom of late-onset very long-chain acyl-coenzyme A dehydrogenase deficiency."
02/01/2014 - "Global VLCAD knockout mice recapitulate these phenotypes: mice develop cardiomyopathy, and cold exposure leads to rapid hypothermia and death. "
09/01/2011 - "Patients with very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency frequently present cardiomyopathy and heartbeat disorders. "
03/01/2009 - "Very long chain acyl-CoA dehydrogenase (VLCAD) deficiency is a disorder of oxidation of long chain fat, and can present as cardiomyopathy or fasting intolerance in the first months to years of life, or as myopathy in later childhood to adulthood. "
11/07/1995 - "This initial delineation of human mutations in VLCAD suggests that VLCAD deficiency reduces myocardial fatty acid beta-oxidation and energy production and is associated with cardiomyopathy and sudden death in childhood."
|5.||Hypoglycemia (Reactive Hypoglycemia)
06/01/2012 - "rAAV9-treated VLCAD(-/-) mice maintained euglycemia, whereas untreated VLCAD(-/-) mice suffered hypoglycemia following a fasting cold challenge. "
07/01/1985 - "Long-chain acyl coenzyme A dehydrogenase deficiency: an inherited cause of nonketotic hypoglycemia."
05/01/1993 - "Long-chain acyl-CoA dehydrogenase (LCAD) deficiency is an autosomal recessive disorder of fatty acid metabolism characterized by hypoglycemia, muscle weakness and hepato- and cardiomegaly to varying extents. "
09/01/1991 - "Long-chain acyl-CoA dehydrogenase (LCAD) deficiency is a disorder of mitochondrial fatty acid oxidation that is characterized by hypoglycemia, muscle weakness, and hepato- and cardiomegaly. "
03/01/2006 - "Mitochondrial very-long-chain acyl-CoA dehydrogenase (VLCAD) deficiency is associated with severe hypoglycemia, cardiac dysfunction, and sudden death in neonates and children. "
|4.||Messenger RNA (mRNA)
|5.||Carnitine O-Palmitoyltransferase (Carnitine Palmitoyltransferase II)
|6.||Succinate Dehydrogenase (Fumarate Reductase)
|7.||Palmitoyl Coenzyme A (Palmitoyl CoA)
|9.||Isocitrate Dehydrogenase (Isocitrate Dehydrogenase (NAD+))