long chain acyl coa dehydrogenase

Summary

Summary: A flavoprotein oxidoreductase that has specificity for long-chain fatty acids. It forms a complex with ELECTRON-TRANSFERRING FLAVOPROTEINS and conveys reducing equivalents to UBIQUINONE.

Top Publications

  1. ncbi Rhabdomyolysis caused by an inherited metabolic disease: very long-chain acyl-CoA dehydrogenase deficiency
    Nicol C Voermans
    Neuromuscular Center Nijmegen, Department of Neurology, Radboud University Nijmegen Medical Center, The Netherlands
    Am J Med 119:176-9. 2006
  2. pmc Mitochondrial dysfunction due to long-chain Acyl-CoA dehydrogenase deficiency causes hepatic steatosis and hepatic insulin resistance
    Dongyan Zhang
    Howard Hughes Medical Institute, Yale University School of Medicine, New Haven, CT 06510, USA
    Proc Natl Acad Sci U S A 104:17075-80. 2007
  3. ncbi Evidence for impaired gluconeogenesis in very long-chain acyl-CoA dehydrogenase-deficient mice
    U Spiekerkoetter
    Department of General Pediatrics, University Children s Hospital, Moorenstrasse 5, 40225 Dusseldorf, Germany
    Horm Metab Res 38:625-30. 2006
  4. ncbi Dietary phytoestrogens increase metabolic resistance (cold tolerance) in long-chain acyl-CoA dehydrogenase-deficient mice
    A Michele Schuler
    Department of Genetics, University of Alabama at Birmingham, USA
    J Nutr 134:1028-31. 2004
  5. pmc Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency
    B S Andresen
    Research Unit for Molecular Medicine, Skejby Sygehus, DK 8200 Arhus N, Denmark, Germany
    Am J Hum Genet 64:479-94. 1999
  6. pmc Targeted disruption of mouse long-chain acyl-CoA dehydrogenase gene reveals crucial roles for fatty acid oxidation
    D M Kurtz
    Department of Comparative Medicine, Schools of Medicine and Dentistry, University of Alabama, Birmingham, AL 35294, USA
    Proc Natl Acad Sci U S A 95:15592-7. 1998
  7. pmc Treatment of cardiomyopathy and rhabdomyolysis in long-chain fat oxidation disorders using an anaplerotic odd-chain triglyceride
    Charles R Roe
    Institute of Metabolic Disease, Baylor University Medical Center, Dallas, Texas 75226, USA
    J Clin Invest 110:259-69. 2002
  8. ncbi Gestational, pathologic and biochemical differences between very long-chain acyl-CoA dehydrogenase deficiency and long-chain acyl-CoA dehydrogenase deficiency in the mouse
    K B Cox
    Department of Genomics and Pathobiology, 1670 University Boulevard, University of Alabama at Birmingham, Birmingham, AL 35294 0019, USA
    Hum Mol Genet 10:2069-77. 2001
  9. ncbi Pitfalls of neonatal screening for very-long-chain acyl-CoA dehydrogenase deficiency using tandem mass spectrometry
    Ina Schymik
    Department of General Pediatrics, University Children s Hospital, Duesseldorf, Germany
    J Pediatr 149:128-30. 2006
  10. ncbi Normal acylcarnitine levels during confirmation of abnormal newborn screening in long-chain fatty acid oxidation defects
    M F Browning
    Department of Metabolism, Children s Hospital and Harvard Medical School, Boston, Massachusetts 02115, USA
    J Inherit Metab Dis 28:545-50. 2005

Detail Information

Publications207 found, 100 shown here

  1. ncbi Rhabdomyolysis caused by an inherited metabolic disease: very long-chain acyl-CoA dehydrogenase deficiency
    Nicol C Voermans
    Neuromuscular Center Nijmegen, Department of Neurology, Radboud University Nijmegen Medical Center, The Netherlands
    Am J Med 119:176-9. 2006
  2. pmc Mitochondrial dysfunction due to long-chain Acyl-CoA dehydrogenase deficiency causes hepatic steatosis and hepatic insulin resistance
    Dongyan Zhang
    Howard Hughes Medical Institute, Yale University School of Medicine, New Haven, CT 06510, USA
    Proc Natl Acad Sci U S A 104:17075-80. 2007
    ..These data demonstrate that primary defects in mitochondrial fatty acid oxidation capacity can lead to diacylglycerol accumulation, PKCepsilon activation, and hepatic insulin resistance...
  3. ncbi Evidence for impaired gluconeogenesis in very long-chain acyl-CoA dehydrogenase-deficient mice
    U Spiekerkoetter
    Department of General Pediatrics, University Children s Hospital, Moorenstrasse 5, 40225 Dusseldorf, Germany
    Horm Metab Res 38:625-30. 2006
    ..Whether this is due to lack of a substrate, inhibitory effects on other gluconeogenic enzymes or impaired transcription of gluconeogenic enzymes needs to be resolved in the future...
  4. ncbi Dietary phytoestrogens increase metabolic resistance (cold tolerance) in long-chain acyl-CoA dehydrogenase-deficient mice
    A Michele Schuler
    Department of Genetics, University of Alabama at Birmingham, USA
    J Nutr 134:1028-31. 2004
    ..Furthermore, they suggest changes that could improve pediatric formula constituents, especially with regard to management of children with inborn errors of fatty acid oxidation...
  5. pmc Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency
    B S Andresen
    Research Unit for Molecular Medicine, Skejby Sygehus, DK 8200 Arhus N, Denmark, Germany
    Am J Hum Genet 64:479-94. 1999
    ..This clear genotype-phenotype relationship is in sharp contrast to what has been observed in medium-chain acyl-CoA dehydrogenase deficiency, in which no correlation between genotype and phenotype can be established...
  6. pmc Targeted disruption of mouse long-chain acyl-CoA dehydrogenase gene reveals crucial roles for fatty acid oxidation
    D M Kurtz
    Department of Comparative Medicine, Schools of Medicine and Dentistry, University of Alabama, Birmingham, AL 35294, USA
    Proc Natl Acad Sci U S A 95:15592-7. 1998
    ..Approximately 10% of adult LCAD -/- males developed cardiomyopathy, and sudden death was observed in 4 of 75 LCAD -/- mice. These results demonstrate the crucial roles of mitochondrial FAO and LCAD in vivo...
  7. pmc Treatment of cardiomyopathy and rhabdomyolysis in long-chain fat oxidation disorders using an anaplerotic odd-chain triglyceride
    Charles R Roe
    Institute of Metabolic Disease, Baylor University Medical Center, Dallas, Texas 75226, USA
    J Clin Invest 110:259-69. 2002
    ..There was no evidence of propionyl overload in these patients. The treatment has been well tolerated for up to 26 months and opens new avenues for the management of patients with mitochondrial fat oxidation disorders...
  8. ncbi Gestational, pathologic and biochemical differences between very long-chain acyl-CoA dehydrogenase deficiency and long-chain acyl-CoA dehydrogenase deficiency in the mouse
    K B Cox
    Department of Genomics and Pathobiology, 1670 University Boulevard, University of Alabama at Birmingham, Birmingham, AL 35294 0019, USA
    Hum Mol Genet 10:2069-77. 2001
    ..In contrast, no live mice with a compound LCAD(-/-)//VLCAD(-/-) genotype were detected...
  9. ncbi Pitfalls of neonatal screening for very-long-chain acyl-CoA dehydrogenase deficiency using tandem mass spectrometry
    Ina Schymik
    Department of General Pediatrics, University Children s Hospital, Duesseldorf, Germany
    J Pediatr 149:128-30. 2006
    ..An increased C14:1-carnitine level can also occur in heterozygous individuals. Elevated C14:1-carnitine level on neonatal screening warrants further diagnostic workup even if a repeat sample demonstrates normal acylcarnitine levels...
  10. ncbi Normal acylcarnitine levels during confirmation of abnormal newborn screening in long-chain fatty acid oxidation defects
    M F Browning
    Department of Metabolism, Children s Hospital and Harvard Medical School, Boston, Massachusetts 02115, USA
    J Inherit Metab Dis 28:545-50. 2005
    ..None the less, molecular testing identified trifunctional protein (TFP) deficiency (McKusick 600890) and very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency (McKusick 201475)...
  11. ncbi Neonatal screening for very long-chain acyl-coA dehydrogenase deficiency: enzymatic and molecular evaluation of neonates with elevated C14:1-carnitine levels
    Michaela Liebig
    Department of General Pediatrics, University Children s Hospital, Moorenstrasse 5, D 40225 Dusseldorf, Germany
    Pediatrics 118:1065-9. 2006
    ..Mildly elevated C14:1-carnitine on day 3 of life strongly suggests very long-chain acyl-coenzyme A dehydrogenase deficiency...
  12. pmc A Delphi clinical practice protocol for the management of very long chain acyl-CoA dehydrogenase deficiency
    Georgianne L Arnold
    Department of Pediatrics, University of Rochester, School of Medicine and Dentistry, Rochester, NY 14642, USA
    Mol Genet Metab 96:85-90. 2009
    ..This consensus protocol is intended to assist clinicians in the diagnosis and management of screen-positive newborns for VLCAD deficiency until evidence-based guidelines are available...
  13. ncbi Biochemical, clinical and molecular findings in LCHAD and general mitochondrial trifunctional protein deficiency
    S E Olpin
    Department of Clinical Chemistry, Sheffield Children s Hospital, Sheffield, UK
    J Inherit Metab Dis 28:533-44. 2005
    ..The mild clinical presentation and relative difficulty in diagnosis suggest that this form of TFP is probably underdiagnosed...
  14. ncbi Human acyl-CoA dehydrogenase-9 plays a novel role in the mitochondrial beta-oxidation of unsaturated fatty acids
    Regina Ensenauer
    Department of Medical Genetics, Pediatric and Adolescent Medicine, Mayo Clinic College of Medicine, Rochester, Minnesota 55905, USA
    J Biol Chem 280:32309-16. 2005
    ..Because of the substrate specificity and abundance of ACAD-9 in brain, we speculate that it may play a role in the turnover of lipid membrane unsaturated fatty acids that are essential for membrane integrity and structure...
  15. ncbi Characterization of L-aminocarnitine, an inhibitor of fatty acid oxidation
    Malika Chegary
    Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases F0 222, Academic Medical Center, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands
    Mol Genet Metab 93:403-10. 2008
    ..Therefore, we conclude that in intact cells L-AC inhibits CPT2. Combined with our observation that l-AC does not activate PPAR, we suggest that L-AC is useful to simulate a FAO defect in cells from different origin...
  16. ncbi Long-chain fatty acid oxidation during early human development
    Nadia A Oey
    Department of Pediatrics, University of Amsterdam, 1105 AZ Amsterdam, The Netherlands
    Pediatr Res 57:755-9. 2005
    ..The observed pattern of expression during early human development is well in line with the spectrum of clinical signs and symptoms reported in patients with VLCAD or LCHAD/MTP deficiency...
  17. ncbi Synergistic heterozygosity in mice with inherited enzyme deficiencies of mitochondrial fatty acid beta-oxidation
    A Michele Schuler
    Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, USA
    Mol Genet Metab 85:7-11. 2005
    ..These results substantiate the concept of synergistic heterozygosity and illustrate the potential complexity involved in diagnosis and characterization of inborn errors of fatty acid metabolism in humans...
  18. ncbi Molecular basis of very long chain acyl-CoA dehydrogenase deficiency in three Israeli patients: identification of a complex mutant allele with P65L and K247Q mutations, the former being an exonic mutation causing exon 3 skipping
    H Watanabe
    Department of Pediatrics, Gifu University School of Medicine, Gifu, Japan
    Hum Mutat 15:430-8. 2000
    ..The P65L mutation locates 11 bases upstream of a splice donor site of intron 3. This is an example of an exonic mutation which affects exon-splicing...
  19. ncbi Mitochondrial fatty acid beta-oxidation in the human eye and brain: implications for the retinopathy of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
    Tiina Tyni
    Department of Pediatric Neurology, Hospital for Children and Adolescents, Helsinki University Central Hospital, 00029 HUS, Helsinki, Finland
    Pediatr Res 56:744-50. 2004
    ..Reduced energy generation in the choroid plexus may contribute to the cerebral edema observed in patients with beta-oxidation defects...
  20. ncbi Is autism a disorder of fatty acid metabolism? Possible dysfunction of mitochondrial beta-oxidation by long chain acyl-CoA dehydrogenase
    Tonya Clark-Taylor
    Med Hypotheses 62:970-5. 2004
    ..It is hypothesized that LCAD deficiency may be a cause of autism. Similarities between metabolic disturbances in autism, and those of disorders of fatty acid beta-oxidation are discussed...
  21. ncbi Quantitative fibroblast acylcarnitine profiles in mitochondrial fatty acid beta-oxidation defects: phenotype/metabolite correlations
    Keow Giak Sim
    Department of Paediatrics and Child Health, University of Sydney, NSW, Australia
    Mol Genet Metab 76:327-34. 2002
    ..This would be particularly useful information for the asymptomatic/pre-symptomatic FAO-deficient infant detected by the expanded newborn screening program, in whom the risk of developing symptoms later in life is not known...
  22. ncbi Mouse models for disorders of mitochondrial fatty acid beta-oxidation
    A Michele Schuler
    Department of Genomics and Pathobiology, School of Medicine, University of Alabama at Birmingham, AL, USA
    ILAR J 43:57-65. 2002
    ..It is expected that these mouse models will provide vital contributions in understanding the mechanisms of disease pathogenesis of fatty acid oxidation disorders and the development of appropriate treatments and supportive care...
  23. ncbi Selective screening for fatty acid oxidation disorders by tandem mass spectrometry: difficulties in practical discrimination
    Yosuke Shigematsu
    Department of Health Science, School of Nursing, Fukui Medical University, Matsuoka cho, Fukui 910 1193, Japan
    J Chromatogr B Analyt Technol Biomed Life Sci 792:63-72. 2003
    ....
  24. ncbi A sensitive and simplified method to analyze free fatty acids in children with mitochondrial beta oxidation disorders using gas chromatography/mass spectrometry and dried blood spots
    Masahiko Kimura
    Department of Pediatrics, Shimane Medical University, 89 1 Enya, Izumo, Shimane 693 8501, Japan
    Clin Chim Acta 316:117-21. 2002
    ..A precise diagnosis of mitochondrial fatty acid beta-oxidation (FAO) disorders can be difficult as several enzymatic reactions are involved...
  25. ncbi Analysis of organic acids after incubation with (16-2H3)palmitic acid in fibroblasts from patients with mitochondrial beta-oxidation defects
    J H Osorio
    Institut Bioquímica Clínica, Corporació Sanitaria Clínic, 08028 Barcelona, Spain
    J Inherit Metab Dis 26:795-803. 2003
    ..For some mitochondrial beta-oxidation deficiencies, the characteristic profile enables us to approach the diagnosis with clear differentiation...
  26. ncbi Creatine kinase and uric acid: early warning for metabolic imbalance resulting from disorders of fatty acid oxidation
    D Marsden
    New England Newborn Screening Program, University of Massachusetts, Jamaica Plain, USA
    Eur J Pediatr 160:599-602. 2001
    ..Maximal levels of uric acid in this series were 6.2-21.5 mg/dl and of creatine kinase 879-27,557 U/l...
  27. ncbi Mutation analysis in mitochondrial fatty acid oxidation defects: Exemplified by acyl-CoA dehydrogenase deficiencies, with special focus on genotype-phenotype relationship
    N Gregersen
    Research Unit for Molecular Medicine, Aarhus University Hospital and Faculty of Health Sciences, Aarhus, Denmark
    Hum Mutat 18:169-89. 2001
    ..However, it remains to be seen to what extent mutation analysis will be used for diagnosis of fatty acid oxidation defects and other metabolic disorders...
  28. ncbi Carnitine supplementation induces acylcarnitine production in tissues of very long-chain acyl-CoA dehydrogenase-deficient mice, without replenishing low free carnitine
    Sonja Primassin
    Department of General Pediatrics, University Children s Hospital, Duesseldorf D 40225, Germany
    Pediatr Res 63:632-7. 2008
    ..The principle mechanism regulating carnitine homeostasis seems to be endogenous carnitine biosynthesis, also under conditions with increased demand of carnitine such as in VLCAD-deficiency...
  29. ncbi Long-chain 3-hydroxyacylCoA dehydrogenase deficiency: a new case presenting with liver dysfunction, cholestasis and fibrosis
    M H Odievre
    Department of Pediatrics and Biochemistry, Hĵpital Necker Enfants Malades, Paris, France
    Acta Paediatr 91:719-22. 2002
    ..This deficiency was due to a G1528C mutation on the paternal allele (mutation on the maternal allele as yet not identified). The patient improved dramatically with medium-chain triglyceride supplementation...
  30. ncbi The medium-/long-chain fatty acyl-CoA dehydrogenase (fadF) gene of Salmonella typhimurium is a phase 1 starvation-stress response (SSR) locus
    M P Spector
    Department of Biomedical Sciences, University of South Alabama, Mobile 36688, USA
    Microbiology 145:15-31. 1999
    ..typhimurium. However, fadF insertion mutations did not have an overt effect on mouse virulence...
  31. pmc Abnormal nonshivering thermogenesis in mice with inherited defects of fatty acid oxidation
    C Guerra
    The Jackson Laboratory, Bar Harbor, Maine 04609, USA
    J Clin Invest 102:1724-31. 1998
    ..oxidation to thermogenesis came from our finding that mice carrying the targeted inactivation of the long chain acyl CoA dehydrogenase gene (Acadl) are also sensitive to the cold...
  32. ncbi Potential of fibrates in the treatment of fatty acid oxidation disorders: revival of classical drugs?
    F Djouadi
    INSERM U393, Hopital Necker, Tour Lavoisier, 149 rue de Sevres, 75015, Paris, France
    J Inherit Metab Dis 29:341-2. 2006
    ..Correction of FAO is related to a drug-induced increase of residual enzyme activity, and this could provide a new treatment strategy for these disorders...
  33. ncbi A novel disease with deficiency of mitochondrial very-long-chain acyl-CoA dehydrogenase
    T Aoyama
    Department of Biochemistry, Shinshu University School of Medicine, Nagano, Japan
    Biochem Biophys Res Commun 191:1369-72. 1993
    ....
  34. ncbi Rat very-long-chain acyl-CoA dehydrogenase, a novel mitochondrial acyl-CoA dehydrogenase gene product, is a rate-limiting enzyme in long-chain fatty acid beta-oxidation system. cDNA and deduced amino acid sequence and distinct specificities of the cDNA-ex
    T Aoyama
    Department of Biochemistry, Shinshu University School of Medicine, Nagano, Japan
    J Biol Chem 269:19088-94. 1994
    ....
  35. pmc Purification of human very-long-chain acyl-coenzyme A dehydrogenase and characterization of its deficiency in seven patients
    T Aoyama
    Department of Biochemistry, Shinshu University School of Medicine, Matsumoto, Japan
    J Clin Invest 95:2465-73. 1995
    ..This frequency (> 57%) was much higher than that observed in patients with other disorders of mitochondrial long-chain fatty acid oxidation that may be accompanied by cardiac disease in infants...
  36. ncbi [Study on regulation of long-chain fatty acid metabolism with the use of computer analysis of complete bacterial genomes]
    N S Sadovskaia
    Mol Biol (Mosk) 35:1010-4. 2001
    ..We also demonstrate that the gene yafH encoding acyl-CoA dehydrogenase is identical to the gene fadE, previously identified by genetic techniques...
  37. ncbi Mechanisms of the depot specificity of peroxisome proliferator-activated receptor gamma action on adipose tissue metabolism
    Mathieu Laplante
    Laval Hospital Research Centre, Laval University, Quebec, QC, Canada G1V 4G5
    Diabetes 55:2771-8. 2006
    ....
  38. ncbi Enzymes of fatty acid beta-oxidation in developing brain
    H Reichmann
    Department of Pediatrics, College of Physicians and Surgeons, Columbia University, New York, New York
    J Neurochem 51:339-44. 1988
    ....
  39. ncbi Immunochemical characterization of variant long-chain acyl-CoA dehydrogenase in cultured fibroblasts from nine patients with long-chain acyl-CoA dehydrogenase deficiency
    Y Indo
    Yale University School of Medicine, Department of Human Genetics, New Haven, Connecticut 06510
    Pediatr Res 30:211-5. 1991
    ..If this is the case, it should be possible to devise a molecular diagnostic method for LCAD deficiency...
  40. ncbi Increased lipolysis in LCHAD deficiency
    M U Halldin
    Department of Women s and Children s Health, University Children s Hospital, SE 751 85, Uppsala, Sweden
    J Inherit Metab Dis 30:39-46. 2007
    ..This is achieved at the price of an augmented risk for fatty acid infiltration and toxic effects of beta-oxidation intermediates. This highlights the importance of avoiding fasting in these patients...
  41. ncbi Organic acid profiles resembling a beta-oxidation defect in two patients with coeliac disease
    C G Costa
    Department of Clinical Chemistry, Free University Hospital, Amsterdam, The Netherlands
    J Inherit Metab Dis 19:177-80. 1996
  42. ncbi Choice of oils for essential fat supplements can enhance production of abnormal metabolites in fat oxidation disorders
    Charles R Roe
    Institute of Metabolic Disease, Baylor University Medical Center, 3812 Elm Street, Dallas, TX 75226, USA
    Mol Genet Metab 92:346-50. 2007
    ..Essential fatty acid supplementation with oils should consider these findings to decrease production of disease-specific acyl-CoA intermediates...
  43. ncbi Rhabdomyolysis in early-onset very long-chain acyl-CoA dehydrogenase deficiency despite normal glucose after fasting
    H M Engbers
    Metabolic Diseases, Wilhelmina Children s Hospital, Lundlaan 6, Utrecht 3508AB, The Netherlands
    J Inherit Metab Dis 28:1151-2. 2005
    ..Rhabdomyolysis may occur in the absence of hypoglycaemia in young infants as well as in older patients...
  44. ncbi 2,6-Dimethylheptanoyl-CoA is a specific substrate for long-chain acyl-CoA dehydrogenase (LCAD): evidence for a major role of LCAD in branched-chain fatty acid oxidation
    R J Wanders
    Department of Clinical Chemistry, Emma Children s Hospital, Academic Medical Centre, University of Amsterdam, P O Box 22700, 1100 DE Amsterdam, The Netherlands
    Biochim Biophys Acta 1393:35-40. 1998
    ....
  45. ncbi Bezafibrate increases very-long-chain acyl-CoA dehydrogenase protein and mRNA expression in deficient fibroblasts and is a potential therapy for fatty acid oxidation disorders
    F Djouadi
    INSERM U393, Hopital Necker Enfants Malades, Paris 75015, France
    Hum Mol Genet 14:2695-703. 2005
    ....
  46. ncbi Very-long-chain acyl-CoA dehydrogenase subunit assembles to the dimer form on mitochondrial inner membrane
    M Souri
    Department of Biochemistry, Shinshu University School of Medicine, Matsumoto, Nagano, Japan
    FEBS Lett 426:187-90. 1998
    ..These results suggest that association of VLCAD protein with mitochondrial inner membrane is necessary for dimer assembly and formation of mature VLCAD...
  47. ncbi Differentiation of long-chain fatty acid oxidation disorders using alternative precursors and acylcarnitine profiling in fibroblasts
    D S Roe
    Kimberly H Courtwright and Joseph W Summers Institute of Metabolic Disease, Baylor University Medical Center, Dallas, TX, USA
    Mol Genet Metab 87:40-7. 2006
    ..These methods may be considered useful alternatives to specific enzyme assays for differentiation between these long-chain fatty acid oxidation disorders, as well as provide insight into new treatment strategies...
  48. ncbi Altered constitutive expression of fatty acid-metabolizing enzymes in mice lacking the peroxisome proliferator-activated receptor alpha (PPARalpha)
    T Aoyama
    Department of Biochemistry, Shinshu University School of Medicine, Matsumoto, Nagano 390, Japan
    J Biol Chem 273:5678-84. 1998
    ....
  49. pmc Genetic basis for correction of very-long-chain acyl-coenzyme A dehydrogenase deficiency by bezafibrate in patient fibroblasts: toward a genotype-based therapy
    S Gobin-Limballe
    Universite Paris Descartes, Centre National de la Recherche Scientifique Biotram, Paris, France
    Am J Hum Genet 81:1133-43. 2007
    ..Finally, this study emphasizes the potential of bezafibrate, a widely prescribed hypolipidemic drug, for the correction of VLCAD deficiency and exemplifies the integration of molecular information in a therapeutic strategy...
  50. ncbi Re-evaluation of fatty acid metabolism-related gene expression in nonalcoholic fatty liver disease
    Motoyuki Kohjima
    Department of Medicine and Bioregulatory Science, Graduate School of Medical Sciences, Kyushu University, 812 8582 Fukuoka, Japan
    Int J Mol Med 20:351-8. 2007
    ..Further studies will be needed to clarify how fatty acid synthesis is increased by SREBP-1c, which is under the control of insulin and AMP-activated protein kinase...
  51. ncbi Review: Metabolic cardiomyopathy and conduction system defects in children
    Enid Gilbert-Barness
    Department of Pathology, University of South Florida, Tampa General Hospital, Tampa, Florida 33601, USA
    Ann Clin Lab Sci 34:15-34. 2004
    ..Although the histological appearance of some of these disorders may be diagnostic, molecular analysis is necessary to define clearly the particular type of cardiomyopathy...
  52. ncbi [Diagnosis of inborn errors of metabolism using tandem mass spectrometry and gas chromatography mass spectrometry]
    Lian Shu Han
    Department of Pediatric Endocrinology and Genetic Metabolism, Shanghai Institute for Pediatric Research, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai 200092, China
    Zhonghua Yi Xue Za Zhi 88:2122-6. 2008
    ..To investigate the effects of tandem mass spectrometry (MS/MS) combined with gas chromatography mass spectrometry (GC-MS) in the diagnosis of inborn errors of metabolism in children...
  53. ncbi Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report
    L S Han
    Department of Pediatric Endocrinology and Genetic Metabolism, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai Institute for Pediatric Research, Shanghai, 200092, China
    J Inherit Metab Dis 30:507-14. 2007
    ..Fatty acid oxidation disorders are relatively rare in the Chinese, but medium-chain acyl-CoA dehydrogenase deficiency should be further investigated...
  54. ncbi Effect of heat stress and bezafibrate on mitochondrial beta-oxidation: comparison between cultured cells from normal and mitochondrial fatty acid oxidation disorder children using in vitro probe acylcarnitine profiling assay
    Hong Li
    Department of Pediatrics, Shimane University School of Medicine, Izumo, Shimane, Japan
    Brain Dev 32:362-70. 2010
    ..Our approach is a simple and promising strategy to evaluate the effects of heat stress or therapeutic drugs on mitochondrial FAO...
  55. ncbi Dietary oxidized fat prevents ethanol-induced triacylglycerol accumulation and increases expression of PPARalpha target genes in rat liver
    Robert Ringseis
    Institut fur Ernahrungswissenschaften, Martin Luther Universitat Halle Wittenberg, D 06108 Halle Saale, Germany
    J Nutr 137:77-83. 2007
    ..This study shows that OF prevents an alcohol-induced triacylglycerol accumulation in rats possibly by upregulation of hepatic PPARalpha-responsive genes involved in oxidation of fatty acids, whereas CLA does not exert such an effect...
  56. ncbi Tandem mass spectrometric analysis for amino, organic, and fatty acid disorders in newborn dried blood spots: a two-year summary from the New England Newborn Screening Program
    T H Zytkovicz
    New England Newborn Screening Program, University of Massachusetts Medical School, Jamaica Plain, 305 South St, Jamaica Plain, MA 02130, USA
    Clin Chem 47:1945-55. 2001
    ..Limited information is available for setting the marker cutoffs and for the resulting positive predictive values...
  57. ncbi Comparative frequency and severity of hypoglycemia in selected organic acidemias, branched chain amino acidemia, and disorders of fructose metabolism
    H G Worthen
    Department of Pediatrics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia
    Brain Dev 16:81-5. 1994
    ..The purpose of this report is to provide the pediatrician, particularly in the Middle East, with a diagnostic guideline to the identification and management of different types of organic acidemias, based on co-existing hypoglycemia...
  58. ncbi PPAR agonists treatment is effective in a nonalcoholic fatty liver disease animal model by modulating fatty-acid metabolic enzymes
    Yeon Seok Seo
    Department of Internal Medicine, Korea University College of Medicine, Guro Hospital, Seoul, Korea
    J Gastroenterol Hepatol 23:102-9. 2008
    ....
  59. ncbi [Combined use of tandem mass spectrometry with urine gas chromatography/mass spectrometry is useful for diagnosis of inborn errors of metabolism in children]
    Li juan Xie
    Department of Pediatrics, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai 200092, China
    Zhongguo Dang Dai Er Ke Za Zhi 10:31-4. 2008
    ..We report our experience with tandem mass spectrometry combined with urine gas chromatography/mass spectrometry as a means of definitively diagnosing inborn errors of metabolism...
  60. ncbi Analysis of cysteinyl leukotrienes and their metabolites in bile of patients with peroxisomal or mitochondrial beta-oxidation defects
    Ertan Mayatepek
    Department of General Pediatrics, University Children s Hospital, Moorenstrasse 5, D 40225, Dusseldorf, Germany
    Clin Chim Acta 345:89-92. 2004
    ..g. contributing to liver injury. In addition, our data confirm that the beta-oxidation of cysteinyl LTs in vivo occurs in peroxisomes and not in mitochondria...
  61. ncbi Peroxisomal straight-chain Acyl-CoA oxidase and D-bifunctional protein are essential for the retroconversion step in docosahexaenoic acid synthesis
    H M Su
    Department of Neurogenetics, Kennedy Krieger Institute, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, USA
    J Biol Chem 276:38115-20. 2001
    ..Our data are consistent with the retroconversion hypothesis and demonstrate that peroxisomal beta-oxidation enzymes acyl-CoA oxidase and D-bifunctional protein are essential for this process in human skin fibroblasts...
  62. ncbi Central administration of corticotropin-releasing factor induces thermogenesis by changes in mitochondrial bioenergetics in neonatal chicks
    A Mujahid
    Laboratory of Advanced Animal and Marine Bioresources, Faculty of Agriculture, Kyushu University, 6 10 1, Hakozaki, Higashi ku, Fukuoka 812 8581, Japan
    Neuroscience 155:845-51. 2008
    ....
  63. ncbi Molecular mechanisms of alcoholic fatty liver: role of peroxisome proliferator-activated receptor alpha
    David W Crabb
    Department of Medicine, Indiana University, Emerson Hall, Room 317, 545 Barnhill Drive, Indianapolis, IN 46202, USA
    Alcohol 34:35-8. 2004
    ..Blockade of PPARalpha function during ethanol consumption contributes to the development of alcoholic fatty liver, which can be overcome by WY14,643...
  64. ncbi Enhanced acyl-CoA dehydrogenase activity is associated with improved mitochondrial and contractile function in heart failure
    Julie H Rennison
    Department of Physiology and Biophysics, School of Medicine E553, Case Western Reserve University, 10900 Euclid Avenue, Cleveland, OH 44106 4970, USA
    Cardiovasc Res 79:331-40. 2008
    ..The aim of the present study was to investigate possible mechanisms by which high fat feeding improved mitochondrial and contractile function in heart failure...
  65. ncbi Regulation of cardiac fatty acids metabolism in transgenic mice overexpressing bovine GH
    Fausto Bogazzi
    Department of Endocrinology and Metabolism, University of Pisa, Ospedale Cisanello, Pisa, Italy
    J Endocrinol 201:419-27. 2009
    ..In conclusion, chronic GH excess increased FA metabolism in the young age, whereas its action was overwhelmed in elder ages likely by GH-independent mechanisms, leading to reduced expression of key enzyme of FA metabolism...
  66. pmc Purification, crystallization and preliminary crystallographic analysis of very-long-chain acyl-CoA dehydrogenase from Caenorhabditis elegans
    Zhijie Li
    National Laboratory of Biomacromolecules, Institute of Biophysics, Chinese Academy of Sciences, Beijing 100101, People s Republic of China
    Acta Crystallogr Sect F Struct Biol Cryst Commun 66:426-30. 2010
    ..A preliminary molecular-replacement solution further confirmed the presence of two molecules in one asymmetric unit, which yields a Matthews coefficient V(M) of 2.76 A(3) Da(-1) and a solvent content of 55%...
  67. ncbi The inhibitory effect of genistein on hepatic steatosis is linked to visceral adipocyte metabolism in mice with diet-induced non-alcoholic fatty liver disease
    Mi Hyun Kim
    Department of Food and Nutrition, College of Human Ecology, Seoul National University, 599 Gwanangno, Gwanak Gu, Seoul 151 742, South Korea
    Br J Nutr 104:1333-42. 2010
    ..Collectively, these findings show that genistein may prevent NAFLD via the regulation of visceral adipocyte metabolism and adipocytokines...
  68. ncbi Role of peroxisomal oxidation in the conversion of arachidonic acid to eicosatrienoic acid in human skin fibroblasts
    A A Spector
    Department of Biochemistry, University of Iowa, Iowa City 52242, USA
    Prostaglandins Leukot Essent Fatty Acids 60:377-82. 1999
    ....
  69. ncbi Bioenergetics in glutaryl-coenzyme A dehydrogenase deficiency: a role for glutaryl-coenzyme A
    Sven W Sauer
    Department of General Pediatrics, Division of Inborn Metabolic Diseases, University Children s Hospital of Heidelberg, Im Neuenheimer Feld 150, D 69120 Heidelberg, Germany
    J Biol Chem 280:21830-6. 2005
    ..In conclusion, our results demonstrate that bioenergetic impairment may play an important role in the pathomechanisms underlying neurodegenerative changes in glutaryl-CoA dehydrogenase deficiency...
  70. ncbi Perioperative management of a child with very-long-chain acyl-coenzyme A dehydrogenase deficiency
    L A Steiner
    Department of Anaesthesia, Universitätskinderspital beider Basel UKBB, Basel, Switzerland
    Paediatr Anaesth 12:187-91. 2002
    ..Considering reports about a possible interference of propofol with fatty acid oxidation and to avoid the unnecessary administration of fatty acids, propofol should not be used in these patients...
  71. ncbi Metabolic profiling of infant urine using comprehensive two-dimensional gas chromatography: Application to the diagnosis of organic acidurias and biomarker discovery
    Konstantinos A Kouremenos
    Australian Centre for Research on Separation Science, School of Applied Sciences, R M I T University, GPO Box 2476 V, Melbourne, Victoria 3001, Australia
    J Chromatogr A 1217:104-11. 2010
    ..This study illustrates the potential of GCxGC-ToFMS for the diagnosis of organic acidurias and detailed analysis of the complex profiles that are often associated with these disorders...
  72. ncbi Heat stress deteriorates mitochondrial beta-oxidation of long-chain fatty acids in cultured fibroblasts with fatty acid beta-oxidation disorders
    Hong Li
    Department of Pediatrics, Shimane University School of Medicine, 89 1 Enya cho, Izumo, Shimane 693 8501, Japan
    J Chromatogr B Analyt Technol Biomed Life Sci 878:1669-72. 2010
    ....
  73. ncbi Pre-exercise medium-chain triglyceride application prevents acylcarnitine accumulation in skeletal muscle from very-long-chain acyl-CoA-dehydrogenase-deficient mice
    Sonja Primassin
    Department of General Pediatrics, University Children s Hospital, Moorenstrasse 5, Duesseldorf, Germany
    J Inherit Metab Dis 33:237-46. 2010
    ..In contrast, continuous MCT treatment produces a higher skeletal muscle content of long-chain acylcarnitines after exercise and increases hepatic lipid storage in VLCAD KO mice...
  74. pmc Chronic AMP-activated protein kinase activation and a high-fat diet have an additive effect on mitochondria in rat skeletal muscle
    Natasha Fillmore
    Department of Physiology and Developmental Biology, Birgham Young University, Provo, UT 84602, USA
    J Appl Physiol (1985) 109:511-20. 2010
    ....
  75. pmc Mitochondrial fatty acid oxidation disorders: pathophysiological studies in mouse models
    Ute Spiekerkoetter
    Department of General Pediatrics, University Children s Hospital, Duesseldorf, Germany
    J Inherit Metab Dis 33:539-46. 2010
    ..In summary, knowledge about the different pathogenetic mechanisms and the resulting pathophysiology allows the development of specific new therapies...
  76. pmc Low expression of long-chain acyl-CoA dehydrogenase in human skeletal muscle
    Amy C Maher
    Department of Medical Science, McMaster University, Ontario, Canada
    Mol Genet Metab 100:163-7. 2010
    ..The purpose of this study was to investigate the expression levels of LCAD in human skeletal muscle...
  77. ncbi An autopsy case of rhabdomyolysis related to vegetamin and genetic analysis of the rhabdomyolysis-associated genes
    Aya Matsusue
    Department of Forensic Medicine, Faculty of Medicine, Fukuoka University, Japan
    J Forensic Leg Med 17:46-9. 2010
    ..There was no mutation in the VLCAD gene or CYP2C19 gene. The subject was heterozygous for CYP2D6*1 and CYP2D6*2...
  78. ncbi Evaluation of fatty acid metabolism-related gene expression in nonalcoholic fatty liver disease
    Makoto Nakamuta
    Department of Medicine and Bioregulatory Science, Graduate School of Medical Sciences, Kyushu University, 3 1 1 Maidashi, Higashi ku, Fukuoka 812 8582, Japan
    Int J Mol Med 16:631-5. 2005
    ....
  79. pmc A diagnostic algorithm for metabolic myopathies
    Andres Berardo
    Department of Neurology, Columbia University Medical Center, 630 West 168th Street, P and S 4 423, New York, NY 10032, USA
    Curr Neurol Neurosci Rep 10:118-26. 2010
    ....
  80. ncbi Heat stress modulates hepatocyte membrane proteins during endotoxemia
    Rene Przkora
    Shriners Hospital for Children and Department of Surgery, University of Texas Medical Branch, Galveston, TX 77550, USA
    Burns 33:628-33. 2007
    ..This study investigates the influence of HS on hepatocyte membrane proteins during endotoxemia using 2D gel electrophoresis...
  81. ncbi [Application of tandem mass spectrometry on the diagnosis of fatty acid oxidation disorders]
    Lian Shu Han
    Department of Pediatric Endocrinology and Genetic Metabolism, Shanghai Institute for Pediatric Research, Xinhua Hospital, Shanghai Jiaotong University School of Medical, Shanghai, 200092 PR China
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi 24:692-5. 2007
    ..To screen and diagnose fatty acid oxidation disorders (FAOD) in high risk children with inborn error of metabolism using tandem mass spectrometry...
  82. ncbi An overview of beta-oxidation disorders
    Dariusz Moczulski
    Katedra Medycyny Wewnetrznej, Uniwersytet Medyczny w Łodzi, Łódź
    Postepy Hig Med Dosw (Online) 63:266-77. 2009
    ....
  83. ncbi UMD (Universal mutation database): a generic software to build and analyze locus-specific databases
    C Beroud
    INSERM U383, Hopital Necker Enfants Malades, Clinique Maurice Lamy, Paris, France
    Hum Mutat 15:86-94. 2000
    ..Four new LSDBs are under construction (VLCAD, MCAD, KIR6, and COL4A5). Finally, the data can be transferred to core databases...
  84. ncbi Carnitine palmitoyltransferase 2: New insights on the substrate specificity and implications for acylcarnitine profiling
    Sara Violante
    Metabolism and Genetics Group, Research Institute for Medicines and Pharmaceutical Sciences, iMed UL, Faculdade de Farmacia, Universidade de Lisboa, Av Prof Gama Pinto, 1649 003 Lisboa, Portugal
    Biochim Biophys Acta 1802:728-32. 2010
    ....
  85. ncbi Disorders of mitochondrial fatty acyl-CoA beta-oxidation
    R J Wanders
    Academic Medical Center, University of Amsterdam, The Netherlands
    J Inherit Metab Dis 22:442-87. 1999
    ..In addition, a simple flowchart is presented as a guide to the identification of mitochondrial FAO-disorders. Finally, treatment strategies are discussed briefly...
  86. pmc Resistance to high-fat diet-induced obesity and insulin resistance in mice with very long-chain acyl-CoA dehydrogenase deficiency
    Dongyan Zhang
    Howard Hughes Medical Institute, Yale University School of Medicine, New Haven, CT 06510, USA
    Cell Metab 11:402-11. 2010
    ....
  87. pmc On-chip acidification rate measurements from single cardiac cells confined in sub-nanoliter volumes
    Igor A Ges
    Department of Biomedical Engineering, Vanderbilt University, Nashville, TN, USA
    Biomed Microdevices 10:347-54. 2008
    ..8 mM of Ca(2+). The NanoPhysiometer concept can be extended to study ischemia/reperfusion injury or disorders of other biological systems to identify strategies for treatment and possible pharmacological targets...
  88. pmc Women have higher protein content of beta-oxidation enzymes in skeletal muscle than men
    Amy C Maher
    Department of Medical Science, McMaster University, Hamilton, Ontario, Canada
    PLoS ONE 5:e12025. 2010
    ..In conclusion, women have more protein content of the major enzymes involved in long and medium chain fatty acid oxidation which could account for the observed differences in fat oxidation during exercise...
  89. ncbi Electrospray tandem mass spectrometry for analysis of acylcarnitines in dried postmortem blood specimens collected at autopsy from infants with unexplained cause of death
    D H Chace
    Neo Gen Screening, PO Box 219, Bridgeville, PA 15017, USA
    Clin Chem 47:1166-82. 2001
    ..Tandem mass spectrometry (MS/MS) may reveal disorders of fatty acid oxidation in deaths of previously unknown cause...
  90. ncbi High-resolution melting analysis, a simple and effective method for reliable mutation scanning and frequency studies in the ACADVL gene
    Rikke Katrine Jentoft Olsen
    Research Unit for Molecular Medicine, Aarhus University Hospital, Skejby, Brendstrupgaardsvej, Aarhus N, Denmark
    J Inherit Metab Dis 33:247-60. 2010
    ..Based on estimates of the expected disease incidence, we discuss the diagnostic accuracy of MS/MS-based newborn screening to identify VLCADD in Denmark...
  91. ncbi Concurrent infantile pneumomediastinum and pneumoperitoneum
    Meghan A Arnold
    Department of Surgery, The Johns Hopkins Hospital, 600 N Wolfe St, Harvey Bldg, Room 319, Baltimore, MD 21287, USA
    Arch Surg 143:197-9. 2008
    ..We review the radiographic findings associated with air dissection syndrome and discuss the management of concurrent nonsurgical pneumomediastinum and pneumoperitoneum in an infant...
  92. ncbi Dexamethasone facilitates lipid accumulation and mild feed restriction improves fatty acids oxidation in skeletal muscle of broiler chicks (Gallus gallus domesticus)
    Xiaojuan Wang
    Department of Animal Science, Shandong Agricultural University, Taian, Shandong 271018, PR China
    Comp Biochem Physiol C Toxicol Pharmacol 151:447-54. 2010
    ..Glucocorticoids (GCs) regulated muscle fatty acid metabolism in a different way from energy deficit caused by mild feed restriction...
  93. ncbi Effect of a hypolipidemic drug, Di (2-ethylhexyl) phthalate, on mRNA-expression associated fatty acid and acetate metabolism in rat tissues
    Ai Itsuki-Yoneda
    Department of Nutritional Science, Faculty of Health and Welfare Science, Okayama Prefectural University, Soja shi, Okayama, Japan
    Biosci Biotechnol Biochem 71:414-20. 2007
    ..From these results, it is suggested that DEHP-treatment increased fatty acid oxidation and acetate formation in liver and testes, and that acetate utilization was increased in peripheral tissues such as the heart...
  94. ncbi Metabolic encephalopathy in Egyptian children
    A Hindawy
    Pediatric Department, Cairo University, Egypt
    Bratisl Lek Listy 108:75-82. 2007
    ..Timely detection of these disorders including screening for MCADD can have a favorable impact on the outcome of these patients (Tab. 11, Fig. 3, Ref. 24) Full Text (Free, PDF)...
  95. pmc Microgram-order ammonium perfluorooctanoate may activate mouse peroxisome proliferator-activated receptor alpha, but not human PPARalpha
    Toshiki Nakamura
    Department of Occupational and Environmental Health, Nagoya University Graduate School of Medicine, 65 Tsurumai Cho, Showa Ku, Nagoya, Aichi 466 8550, Japan
    Toxicology 265:27-33. 2009
    ..Taken together, human PPARalpha may be less responsive to PFOA than that of mice when a relatively low dose is applied. This information may be very valuable in considering whether PFOA influences the lipid metabolism in humans...
  96. ncbi Inborn errors of metabolism and pregnancy
    J H Walter
    Willink Biochemical Genetics Unit, Royal Manchester Children s Hospital, UK
    J Inherit Metab Dis 23:229-36. 2000
    ..Because of the rarity of individual disorders, our knowledge of risks associated with pregnancy is limited. Even for more common inborn errors such as phenylketonuria, there remain a number of questions that have not been fully answered...
  97. ncbi Gene and protein expression changes in response to normoxic perfusion in mouse hearts
    Nóra Faragó
    Laboratory of Functional Genomics, Biological Research Center, Hungarian Academy of Sciences, H 6726, Szeged, Hungary
    J Pharmacol Toxicol Methods 57:145-54. 2008
    ..Therefore, here we investigated the time-dependent effect of normoxic, normothermic perfusion on global gene expression at mRNA and protein levels...
  98. ncbi High activity of fatty acid oxidation enzymes in human placenta: implications for fetal-maternal disease
    N A Oey
    Department of Paediatrics, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands
    J Inherit Metab Dis 26:385-92. 2003
    ....
  99. ncbi Effects of cyclic hypoxia on gene expression and reproduction in a grass shrimp, Palaemonetes pugio
    Nancy J Brown-Peterson
    Department of Coastal Sciences, The University of Southern Mississippi, 703 East Beach Dr, Ocean Springs, Mississippi 39564, USA
    Biol Bull 214:6-16. 2008
    ..Demographic analysis showed a lower estimated rate of population growth in grass shrimp exposed to both continuous and short-term cyclic hypoxia, suggesting population-level impacts on grass shrimp...
  100. ncbi Identification of differentially expressed proteins in adipose tissue of divergently selected broilers
    D Wang
    College of Animal Science and Technology, Northeast Agricultural University, Harbin 150030, P R China
    Poult Sci 88:2285-92. 2009
    ..The results, from the point of view of protein expression, establish the groundwork for further studies of the basic genetic control of growth and development of broiler adipose tissue...
  101. pmc Mitochondrial protein acylation and intermediary metabolism: regulation by sirtuins and implications for metabolic disease
    John C Newman
    Gladstone Institute of Virology and Immunology, San Francisco, California 94158, USA
    J Biol Chem 287:42436-43. 2012
    ..Here, we review the emerging role of mitochondrial sirtuins as metabolic sensors that respond to changes in the energy status of the cell and modulate the activities of key metabolic enzymes via protein deacylation...

Research Grants21

  1. Structure and Function of Enzymes in Fatty Acid Oxidation
    JUNG JA P KIM; Fiscal Year: 2013
    ....
  2. Regulation of mitochondrial metabolism by lysine acetylation
    Eric S Goetzman; Fiscal Year: 2013
    ....
  3. A MOUSE MODEL FOR HUMAN INHERITED DISEASES
    Philip A Wood; Fiscal Year: 2010
    ..The results of these studies could have wide ranging impact on understanding the underlying bases of many other inherited diseases. ..
  4. Proteomic profiling of NASH: disease mechanisms and novel treatment
    DENNIS PETERSEN; Fiscal Year: 2011
    ..These proposed experiments will provide new insight into the pathomechanisms of NAFLD and potential therapeutic approaches to the treatment of this liver disease. ..
  5. Gene Therapy for Lung and Cardiovascular Disease
    Nicholas Muzyczka; Fiscal Year: 2012
    ..The Cores will also serve as a mechanism to insure rapid exchange of information among all subprojects. ..
  6. Inborn Errors of Long Chain Fat Metabolism
    Gerard Vockley; Fiscal Year: 2013
    ..Specific Aim 3a is to examine surfactant metabolism in wild type and LCAD deficient primary pneumocytes. Specific Aim 3b is to characterize the incidence and spectrum of clinical symptoms in LCAD deficiency. ..
  7. Regulation of energy metabolism in the failing heart
    Raymond Russell; Fiscal Year: 2005
    ..The findings of these studies will help to characterize the defects in energy metabolism in the failing heart and aid in the design of therapies that improve energy transduction in the failing human heart. ..
  8. GASTROINTESTINAL PROTEINS--CELL AND MOLECULAR REGULATION
    Jeffrey Gordon; Fiscal Year: 2000
    ..and antichymotrypsin (project 4), liver and intestinal fatty acid binding proteins (project 5), and long chain acyl CoA dehydrogenase (project 6)...
  9. Adaptation to long chain fatty acid oxidation deficiency
    Arnold Strauss; Fiscal Year: 2007
    ..We will investigate its role by generating a HERS knockout in the last specific aim. ..
  10. Nutritional Treatment of Fat Oxidation Defect in Mice
    Henri Brunengraber; Fiscal Year: 2009
    ..To improve the survival of newborn MTP -/- mice. ..
  11. Fatty Acid Oxidation Disorders & Body Weight Regulation
    MELANIE GILLINGHAM; Fiscal Year: 2009
    ..Results from these studies will enhance our understanding of the role of FAO in body composition and insulin resistance, and may provide a new dietary treatment to prevent obesity in children with long-chain FAO disorders. ..
  12. CHARACTERIZATION & THERAPY OF NEW FAT OXIDATION DEFECTS
    Charles Roe; Fiscal Year: 1991
    ..The major objectives, therefore, are to characterize and demonstrate new defects of fat oxidation and to investigate a potential therapy...
  13. Diet treatment of Galactosemic Infants: A Pilot Study
    Can Ficicioglu; Fiscal Year: 2007
    ..Evidence from this study may have a future impact on how newborn galactosemics are treated with a potential for moderating long-term complications. [unreadable] [unreadable]..
  14. Effects of ethanol on AMP kinase signaling
    David Crabb; Fiscal Year: 2008
    ..It may also shed light on the pathogenesis of non-alcoholic fatty liver disease. [unreadable] [unreadable] [unreadable]..
  15. Alcohol abuse in a small rodent neuroAIDS model
    Johnny He; Fiscal Year: 2008
    ..unreadable] [unreadable] [unreadable]..
  16. Biochemical and Metabolic Properties of 10-HETE
    ARTHUR SPECTOR; Fiscal Year: 2006
    ..The ultimate goal of this project is to provide the additional mechanistic insight necessary to develop new therapeutic approaches to overcome the pathological actions of 20-HETE. ..
  17. ETHANOL OXIDATION IN GENETICALLY MODIFIED CELLS
    David Crabb; Fiscal Year: 2002
    ..This study should answer the question of how the presence of different isozymes of ADH modulates alcohol metabolic rates and intracellular acetaldehyde. ..
  18. REGULATION OF EXPRESSION OF ALDH2
    David Crabb; Fiscal Year: 2003
    ..These studies should further our understanding of the tissue-specific control of ALDH2 and the potential that dietary factors have on its expression. ..
  19. MITOCHONDRIAL DNA ANALYSIS IN CYCLIC VOMITING SYNDROME
    Richard Boles; Fiscal Year: 2002
    ..An extensive amount of clinical and laboratory data will be collected in all patients, allowing for the comparison of CVS sufferers with and without mtDNA mutations. ..
  20. Genetically Optimized Adipocyte Omega-3 Fatty Acids
    Philip Wood; Fiscal Year: 2004
    ..This unique model will allow specific evaluation of the benefits adipocytes with optimal concentrations of omega-3 fatty acids, without the confounding factors of diet. ..
  21. Attentional Dysfunction in Children with Phenylketonuria
    Georgianne Arnold; Fiscal Year: 2008
    ....