ACADVL

Summary

Gene Symbol: ACADVL
Description: acyl-CoA dehydrogenase very long chain
Alias: ACAD6, LCACD, VLCAD, very long-chain specific acyl-CoA dehydrogenase, mitochondrial, acyl-Coenzyme A dehydrogenase, very long chain
Species: human
Products:     ACADVL

Top Publications

  1. de la Rosa Rodriguez M, Sugahara G, Hooiveld G, Ishida Y, Tateno C, Kersten S. The whole transcriptome effects of the PPAR? agonist fenofibrate on livers of hepatocyte humanized mice. BMC Genomics. 2018;19:443 pubmed publisher
    ..the fenofibrate-treated mice, including many established PPAR? targets such as FABP1, HADHB, HADHA, VNN1, PLIN2, ACADVL and HMGCS2...
  2. Tenopoulou M, Chen J, Bastin J, Bennett M, Ischiropoulos H, Doulias P. Strategies for correcting very long chain acyl-CoA dehydrogenase deficiency. J Biol Chem. 2015;290:10486-94 pubmed publisher
    Very long acyl-CoA dehydrogenase (VLCAD) deficiency is a genetic pediatric disorder presenting with a spectrum of phenotypes that remains for the most part untreatable...
  3. Petrie M, Suneja M, Faidley E, Shields R. A minimal dose of electrically induced muscle activity regulates distinct gene signaling pathways in humans with spinal cord injury. PLoS ONE. 2014;9:e115791 pubmed publisher
    ..However, chronic training increased the mRNA expression of specific metabolic pathway genes (BRP44, BRP44L, SDHB, ACADVL), mitochondrial fission and fusion genes (MFF, MFN1, MFN2), and slow muscle fiber genes (MYH6, MYH7, MYL3, MYL2)...
  4. Carvalho C, Vasanth S, Shinawi M, Russell C, Ramocki M, Brown C, et al. Dosage changes of a segment at 17p13.1 lead to intellectual disability and microcephaly as a result of complex genetic interaction of multiple genes. Am J Hum Genet. 2014;95:565-78 pubmed publisher
    ..phenotype in zebrafish embryos revealed a complex genetic architecture: dosage perturbation of four genes (ASGR1, ACADVL, DVL2, and GABARAP) impeded neurodevelopment and decreased dosage of the same loci caused a reduced mitotic index ..
  5. Giuliani E, Coppi F, Bertolotti V, Gorlato G, Zavatta M, Barbieri A. Critical illness in energy metabolism genetic disorder: rhabdomyolysis, acute kidney injury, respiratory arrest. West Indian Med J. 2013;62:773-5 pubmed publisher
    In very long-chain acylCoA dehydrogenase deficiency (VLCAD), the activity of this enzyme is either reduced or absent with the inability to use long-chain fatty acids as energy substrates...
  6. Choi J, Ravipati A, Nimmagadda V, Schubert M, Castellani R, Russell J. Potential roles of PINK1 for increased PGC-1α-mediated mitochondrial fatty acid oxidation and their associations with Alzheimer disease and diabetes. Mitochondrion. 2014;18:41-8 pubmed publisher
    ..of two key enzymes of the mitochondrial β-oxidation machinery, acyl-coenzyme A dehydrogenase, very long chain (ACADVL) and mitochondrial trifunctional enzyme subunit α are significantly decreased in AD and diabetic brains...
  7. Tarasenko T, Cusmano Ozog K, McGuire P. Tissue acylcarnitine status in a mouse model of mitochondrial ?-oxidation deficiency during metabolic decompensation due to influenza virus infection. Mol Genet Metab. 2018;: pubmed publisher
    ..mouse adapted influenza and using a pair-feeding strategy in a mouse model of long-chain fatty acid oxidation (Acadvl-/-), our goals were to isolate the effects of infection on tissue acylcarnitines and determine how they ..
  8. Li X, DING Y, Ma Y, Liu Y, Wang Q, Song J, et al. Very long-chain acyl-coenzyme A dehydrogenase deficiency in Chinese patients: eight case reports, including one case of prenatal diagnosis. Eur J Med Genet. 2015;58:134-9 pubmed publisher
    ..The clinical features and ACADVL gene mutations were analyzed...
  9. Muroya Y, Ito O. Effect of clofibrate on fatty acid metabolism in the kidney of puromycin-induced nephrotic rats. Clin Exp Nephrol. 2016;20:862-870 pubmed
    ..in MCAD, CYP4A, PGC-1α and ERRα expressions with increased PPARα, very long-chain acyl-CoA dehydrogenase (VLCAD) and long-chain acyl-CoA dehydrogenase (LCAD) expressions...

More Information

Publications82

  1. Yang Y, Feng Y, Zhang X, Nakajima T, Tanaka N, Sugiyama E, et al. Activation of PPAR? by Fatty Acid Accumulation Enhances Fatty Acid Degradation and Sulfatide Synthesis. Tohoku J Exp Med. 2016;240:113-22 pubmed publisher
    Very-long-chain acyl-CoA dehydrogenase (VLCAD) catalyzes the first reaction in the mitochondrial fatty acid ?-oxidation pathway...
  2. Lepori V, Mühlhause F, Sewell A, Jagannathan V, Janzen N, Rosati M, et al. A Nonsense Variant in the ACADVL Gene in German Hunting Terriers with Exercise Induced Metabolic Myopathy. G3 (Bethesda). 2018;8:1545-1554 pubmed publisher
    ..Whole genome sequence analysis of one affected dog and 191 controls revealed a nonsense variant in the ACADVL gene encoding acyl-CoA dehydrogenase very long chain, c.1728C>A or p.(Tyr576*)...
  3. Weber C, Schäff C, Kautzsch U, Borner S, Erdmann S, Bruckmaier R, et al. Variable liver fat concentration as a proxy for body fat mobilization postpartum has minor effects on insulin-induced changes in hepatic gene expression related to energy metabolism in dairy cows. J Dairy Sci. 2017;100:1507-1520 pubmed publisher
    ..carboxylase, cytosolic phosphoenolpyruvate carboxykinase (PEPCK; PCK1), acyl-CoA-dehydrogenase very long chain (ACADVL), and hydroxyl-methyl-glutaryl-CoA-synthase 1 increased, but the mRNA abundance of solute carrier family 2 (SLC2A2 ..
  4. Tucci S, Behringer S, Spiekerkoetter U. De novo fatty acid biosynthesis and elongation in very long-chain acyl-CoA dehydrogenase-deficient mice supplemented with odd or even medium-chain fatty acids. FEBS J. 2015;282:4242-53 pubmed publisher
    ..medium-chain triglyceride (MCT)-based diet is the mainstay of treatment in very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency (VLCADD)...
  5. Diekman E, de Sain van der Velden M, Waterham H, Kluijtmans L, Schielen P, Van Veen E, et al. The Newborn Screening Paradox: Sensitivity vs. Overdiagnosis in VLCAD Deficiency. JIMD Rep. 2016;27:101-6 pubmed publisher
    ..020 was isolated and sequenced. Children homozygous or compound heterozygous for mutations in the ACADVL gene were traced back and invited for detailed clinical, biochemical, and genetic evaluation...
  6. Yamamoto S, Ogasawara N, Yamamoto K, Uemura C, Takaya Y, Shiraishi T, et al. Mitochondrial proteins NIP-SNAP-1 and -2 are a target for the immunomodulatory activity of clarithromycin, which involves NF-?B-mediated cytokine production. Biochem Biophys Res Commun. 2017;483:911-916 pubmed publisher
    ..associated protein 25-like protein homolog (NIP-SNAP)-1 and -2 and very long-chain acyl-CoA dehydrogenase (VLCAD) as CAM-binding proteins...
  7. Hagenbuchner J, Scholl Buergi S, Karall D, Ausserlechner M. Very long-/ and long Chain-3-Hydroxy Acyl CoA Dehydrogenase Deficiency correlates with deregulation of the mitochondrial fusion/fission machinery. Sci Rep. 2018;8:3254 pubmed publisher
    ..By analyzing mitochondrial morphology we uncovered that mutations within the HADHA or the ACADVL gene not only affect fatty acid oxidation, but also cause significant changes in the DNM1L/MFN2 ratio leading to ..
  8. Wajner M, Amaral A. Mitochondrial dysfunction in fatty acid oxidation disorders: insights from human and animal studies. Biosci Rep. 2015;36:e00281 pubmed publisher
    ..MCAD), long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) and very long-chain acyl-CoA dehydrogenase (VLCAD) deficiencies...
  9. Rodríguez Calvo R, Chanda D, Oligschlaeger Y, Miglianico M, Coumans W, Barroso E, et al. Small heterodimer partner (SHP) contributes to insulin resistance in cardiomyocytes. Biochim Biophys Acta. 2017;1862:541-551 pubmed publisher
    ..SHP overexpressing cells further showed altered expression of genes involved in lipid metabolism, i.e., Acaca, Acadvl or Ucp3, augmented NF-?B DNA-binding activity and induced transcripts of inflammatory genes, i.e...
  10. Kang E, Kim Y, Kang M, Heo S, Kim G, Choi I, et al. Clinical and genetic characteristics of patients with fatty acid oxidation disorders identified by newborn screening. BMC Pediatr. 2018;18:103 pubmed publisher
    ..8?±?4.8 days: 5 with very-long-chain acyl-CoA dehydrogenase (VLCAD) deficiency, 5 with medium chain acyl-CoA dehydrogenase (MCAD) deficiency, 1 with primary carnitine deficiency, 1 ..
  11. Chang E, Kim Y. Vitamin D Insufficiency Exacerbates Adipose Tissue Macrophage Infiltration and Decreases AMPK/SIRT1 Activity in Obese Rats. Nutrients. 2017;9: pubmed publisher
    ..D insufficiency significantly decreased mRNA levels of ?-oxidation-related genes such as CPT1?, PGC1?, PPAR?, VLCAD, LCAD, MCAD, and UCP1...
  12. Escudero S, Zaganjor E, Lee S, Mill C, Morgan A, Crawford E, et al. Dynamic Regulation of Long-Chain Fatty Acid Oxidation by a Noncanonical Interaction between the MCL-1 BH3 Helix and VLCAD. Mol Cell. 2018;69:729-743.e7 pubmed publisher
    ..that the BCL-2 homology 3 (BH3) α helix of MCL-1 can directly engage very long-chain acyl-CoA dehydrogenase (VLCAD), a key enzyme of the mitochondrial fatty acid β-oxidation (FAO) pathway...
  13. Ko J, Seo J, Choi M, Song J, Lee K, Shin C. Rare Korean Cases of Very-long-chain Acyl-CoA Dehydrogenase Deficiency with a Novel Recurrent Mutation. Ann Clin Lab Sci. 2016;46:97-101 pubmed
    ..Ser207Pro) on ACADVL. Our patients were the first cases of the milder form of VLCADD, and the identical mutation detected might ..
  14. Fernandez Guerra P, Lund M, Corydon T, Cornelius N, Gregersen N, Palmfeldt J, et al. Application of an Image Cytometry Protocol for Cellular and Mitochondrial Phenotyping on Fibroblasts from Patients with Inherited Disorders. JIMD Rep. 2016;27:17-26 pubmed publisher
    ..patients with inherited diseases, we analysed HDFs from two patients with very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency (VLCADD), one with a severe clinical phenotype and one with a mild one...
  15. Bouvier D, Vianey Saban C, Ruet S, Acquaviva C. Development of a Tandem Mass Spectrometry Method for Rapid Measurement of Medium- and Very-Long-Chain Acyl-CoA Dehydrogenase Activity in Fibroblasts. JIMD Rep. 2017;35:71-78 pubmed publisher
    ..All VLCADD patients showed less than 35% residual VLCAD activity. This technique allowed also to confirm that a novel ACADVL gene mutation (c.1400T>C) is responsible for a defective VLCAD activity (residual activity at 10%).
  16. Ibeagha Awemu E, Li R, Ammah A, Dudemaine P, Bissonnette N, Benchaar C, et al. Transcriptome adaptation of the bovine mammary gland to diets rich in unsaturated fatty acids shows greater impact of linseed oil over safflower oil on gene expression and metabolic pathways. BMC Genomics. 2016;17:104 pubmed publisher
    ..Involvement of SCP2, PDK4, NQO1, F2RL1, DBI, CPT1A, CNTFR, CALB1, ACADVL, SPTLC3, PIK3CG, PIGZ, ADORA2B, TRIB3, HPGD, IGFBP2 and TXN in FA/lipid metabolism in dairy cows is being reported ..
  17. Sun R, Cao M, Zhang J, Yang W, Wei H, Meng X, et al. Benzene Exposure Alters Expression of Enzymes Involved in Fatty Acid ?-Oxidation in Male C3H/He Mice. Int J Environ Res Public Health. 2016;13: pubmed
    ..of FA transport- and ?-oxidation-related enzymes showed that expression of proteins Cpt1a, Crat, Acaa2, Aldh1l2, Acadvl, Crot, Echs1, and Hadha was significantly increased...
  18. Yang X, Zheng K, Lin K, Zheng G, Zou H, Wang J, et al. Energy Metabolism Disorder as a Contributing Factor of Rheumatoid Arthritis: A Comparative Proteomic and Metabolomic Study. PLoS ONE. 2015;10:e0132695 pubmed publisher
    ..LDHA), and the enzymes of aerobic oxidation and fatty acid oxidation were down-regulated (CS, DLST, PGD, ACSL4, ACADVL and HADHA) in RA patients...
  19. Smon A, Repič Lampret B, Groselj U, Zerjav Tansek M, Kovac J, Perko D, et al. Next generation sequencing as a follow-up test in an expanded newborn screening programme. Clin Biochem. 2018;52:48-55 pubmed publisher
    ..very long-chain acyl-CoA dehydrogenase deficiency had negative metabolic follow-up tests, but had two heterozygous ACADVL variants; one known disease-causing variant and one indel, namely c...
  20. Chuaijit S, Boonyatistan W, Boonchuay P, Metheetrairut C, Suthammarak W. Identification of a novel mitochondrial complex I assembly factor ACDH-12 in Caenorhabditis elegans. Mitochondrion. 2018;: pubmed publisher
    ..Although ACDH-12 has long been recognized as a very long-chain acyl-CoA dehydrogenase (VLCAD), the knockdown nematodes did not exhibit any change in body fat content...
  21. Stępień K, Roberts M, Hendriksz C. Very-Long-Chain Acyl-CoA Dehydrogenase Deficiency--diagnostic difficulties and own experience in multidisciplinary management. Dev Period Med. 2015;19:450-3 pubmed
    ..Very-long-chain Acyl-CoA dehydrogenase (VLCAD) deficiency should always be considered as a differential diagnosis of myopathy-related symptoms...
  22. Souri M, Aoyama T, Hoganson G, Hashimoto T. Very-long-chain acyl-CoA dehydrogenase subunit assembles to the dimer form on mitochondrial inner membrane. FEBS Lett. 1998;426:187-90 pubmed
    This paper describes the process of dimer assembly of mitochondrial very-long-chain acyl-CoA dehydrogenase (VLCAD) subunit. Mature VLCAD is a homodimer of a 70-kDa protein associated with the mitochondrial membrane...
  23. Ryder B, Knoll D, Love D, Shepherd P, Love J, Reed P, et al. The natural history of elevated tetradecenoyl-L-carnitine detected by newborn screening in New Zealand: implications for very long chain acyl-CoA dehydrogenase deficiency screening and treatment. J Inherit Metab Dis. 2016;39:409-414 pubmed publisher
    ..1226C > T (p.Thr409Met) ACADVL gene variant...
  24. Mathur A, Sims H, Gopalakrishnan D, Gibson B, Rinaldo P, Vockley J, et al. Molecular heterogeneity in very-long-chain acyl-CoA dehydrogenase deficiency causing pediatric cardiomyopathy and sudden death. Circulation. 1999;99:1337-43 pubmed
    ..Very-long-chain acyl-CoA dehydrogenase (VLCAD) catalyzes the first step in the beta-oxidation spiral of fatty acid metabolism, the crucial pathway for cardiac ..
  25. Zia A, Kolodny E, Pastores G. Very long chain acyl-CoA dehydrogenase deficiency in a pair of mildly affected monozygotic twin sister in their late fifties. J Inherit Metab Dis. 2007;30:817 pubmed
    Very long-chain acyl-CoA dehydrogenase (VLCAD) catalyses the initial step of mitochondrial beta-oxidation of long-chain fatty acids with a chain length of 14 to 20 carbons...
  26. Coughlin C, Ficicioglu C. Genotype-phenotype correlations: sudden death in an infant with very-long-chain acyl-CoA dehydrogenase deficiency. J Inherit Metab Dis. 2010;33 Suppl 3:S129-31 pubmed publisher
    ..Despite the early onset of the disease, the patient was found to have a missense mutation within the ACADVL gene with a c.848T>C, c.342+1G>C genotype...
  27. Obaid A, Nashabat M, Alfadhel M, Alasmari A, Al Mutairi F, Alswaid A, et al. Clinical, Biochemical, and Molecular Features in 37 Saudi Patients with Very Long Chain Acyl CoA Dehydrogenase Deficiency. JIMD Rep. 2018;40:47-53 pubmed publisher
    ..deficiency (OMIM#201475) is an autosomal recessive disorder of fatty acid beta oxidation caused by defect in the ACADVL. The aim of this study was to analyze the clinical, biochemical, and molecular features of VLCAD deficiency in ..
  28. Laforet P, Acquaviva Bourdain C, Rigal O, Brivet M, Penisson Besnier I, Chabrol B, et al. Diagnostic assessment and long-term follow-up of 13 patients with Very Long-Chain Acyl-Coenzyme A dehydrogenase (VLCAD) deficiency. Neuromuscul Disord. 2009;19:324-9 pubmed publisher
    Very Long-Chain Acyl-CoA dehydrogenase (VLCAD) deficiency is an inborn error of mitochondrial long-chain fatty acid oxidation (FAO) most often occurring in childhood with cardiac or liver involvement, but rhabdomyolysis attacks have also ..
  29. Ensenauer R, He M, Willard J, Goetzman E, Corydon T, Vandahl B, et al. Human acyl-CoA dehydrogenase-9 plays a novel role in the mitochondrial beta-oxidation of unsaturated fatty acids. J Biol Chem. 2005;280:32309-16 pubmed
    ..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. ..
  30. Cox G, Souri M, Aoyama T, Rockenmacher S, Varvogli L, Rohr F, et al. Reversal of severe hypertrophic cardiomyopathy and excellent neuropsychologic outcome in very-long-chain acyl-coenzyme A dehydrogenase deficiency. J Pediatr. 1998;133:247-53 pubmed
    Very-long-chain acyl-coenzyme A dehydrogenase (VLCAD) deficiency is a disorder of fatty acid beta oxidation that reportedly has high rates of morbidity and mortality...
  31. Bartha J, Bugatto F, Fernández Deudero A, Fernández Macías R, Perdomo G. Tissue specific expression of human fatty acid oxidation enzyme genes in late pregnancy. Lipids Health Dis. 2016;15:200 pubmed
    ..91). LCHAD and MCAD are differentially expressed in maternal and fetal tissues during normal late pregnancy, which may represent a metabolic adaptation in response to physiological maternal dyslipidemia during late pregnancy. ..
  32. Zhang R, Li Y, Qiu W, Ye J, Han L, Zhang H, et al. Clinical features and mutations in seven Chinese patients with very long chain acyl-CoA dehydrogenase deficiency. World J Pediatr. 2014;10:119-25 pubmed publisher
    ..dehydrogenase deficiency (VLCADD) is an inherited metabolic disease caused by deleterious mutations in the ACADVL gene that encodes very long chain acyl-CoA dehydrogenase (VLCAD), and which can present as cardiomyopathy in ..
  33. Kabuyama Y, Suzuki T, Nakazawa N, Yamaki J, Homma M, Homma Y. Dysregulation of very long chain acyl-CoA dehydrogenase coupled with lipid peroxidation. Am J Physiol Cell Physiol. 2010;298:C107-13 pubmed publisher
    ..This analysis shows that the phosphorylation of Ser586 of very long chain acyl-CoA dehydrogenase (VLCAD) is significantly reduced in IPF cells. Similar results are obtained from immunoblotting with anti-pS586 antibody...
  34. Soon P, Libe R, Benn D, Gill A, Shaw J, Sywak M, et al. Loss of heterozygosity of 17p13, with possible involvement of ACADVL and ALOX15B, in the pathogenesis of adrenocortical tumors. Ann Surg. 2008;247:157-64 pubmed
  35. Pena L, van Calcar S, Hansen J, Edick M, Walsh Vockley C, Leslie N, et al. Outcomes and genotype-phenotype correlations in 52 individuals with VLCAD deficiency diagnosed by NBS and enrolled in the IBEM-IS database. Mol Genet Metab. 2016;118:272-81 pubmed publisher
    Very long chain acyl-CoA dehydrogenase (VLCAD) deficiency can present at various ages from the neonatal period to adulthood, and poses the greatest risk of complications during intercurrent illness or after prolonged fasting...
  36. Campbell C, Ganesh J, Ficicioglu C. Two newborns with nutritional vitamin B12 deficiency: challenges in newborn screening for vitamin B12 deficiency. Haematologica. 2005;90:ECR45 pubmed
    ..Further studies are needed to establish the sensitivity of these three markers in screening for Vitamin B12 deficiency. ..
  37. Gobin Limballe S, McAndrew R, Djouadi F, Kim J, Bastin J. Compared effects of missense mutations in Very-Long-Chain Acyl-CoA Dehydrogenase deficiency: Combined analysis by structural, functional and pharmacological approaches. Biochim Biophys Acta. 2010;1802:478-84 pubmed publisher
    ..we first analyzed fourteen disease-causing amino acid changes using the recently described crystal structure of VLCAD. The predicted effects varied from the replacement of amino acid residues lining the substrate binding cavity, ..
  38. Aoyama T, Uchida Y, Kelley R, Marble M, Hofman K, Tonsgard J, et al. A novel disease with deficiency of mitochondrial very-long-chain acyl-CoA dehydrogenase. Biochem Biophys Res Commun. 1993;191:1369-72 pubmed
    ..presence and absence of antibodies against medium-chain, long-chain, and very-long-chain acyl-CoA dehydrogenases (VLCAD)...
  39. Spiekerkoetter U. Effects of a fat load and exercise on asymptomatic VLCAD deficiency. J Inherit Metab Dis. 2007;30:405 pubmed
    The patient was identified via family screening at the age of 3 years when very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency was diagnosed in his sister by newborn screening...
  40. Aoyama T, Wakui K, Fukushima Y, Orii K, Hashimoto T. Assignment of the human mitochondrial very-long-chain acyl-CoA dehydrogenase gene (LCACD) to 17p13 by in situ hybridization. Genomics. 1996;37:144-5 pubmed
  41. Isackson P, Sutton K, Hostetler K, Vladutiu G. Novel mutations in the gene encoding very long-chain acyl-CoA dehydrogenase identified in patients with partial carnitine palmitoyltransferase II deficiency. Muscle Nerve. 2013;47:224-9 pubmed publisher
    ..the reaction product of CPTII is the substrate for very long-chain acyl-CoA dehydrogenase (VLCAD), we examined the ACADVL gene in these patients by sequence analysis...
  42. Zhang L, Ding J, Yang B, He G, Roe C. Characterization of the bidirectional promoter region between the human genes encoding VLCAD and PSD-95. Genomics. 2003;82:660-8 pubmed
    ..Interestingly, the human genes encoding VLCAD (ACADVL) and PSD-95 (DLG4) are adjacently located in the head-to-head orientation on chromosome 17p...
  43. Merinero B, Alcaide P, Martin Hernandez E, Morais A, Garcia Silva M, Quijada Fraile P, et al. Four Years' Experience in the Diagnosis of Very Long-Chain Acyl-CoA Dehydrogenase Deficiency in Infants Detected in Three Spanish Newborn Screening Centers. JIMD Rep. 2018;39:63-74 pubmed publisher
    ..were classified as false positives, with normal biochemical parameters and no mutations in the exonic region of ACADVL. All these carriers and the false positive cases remained asymptomatic...
  44. Matsusue A, Hara K, Kashiwagi M, Kageura M, Sugimura T, Kubo S. Genetic analysis of the rhabdomyolysis-associated genes in forensic autopsy cases of methamphetamine abusers. Leg Med (Tokyo). 2011;13:7-11 pubmed publisher
    ..ryanodine receptor 1 (RYR 1), carnitine palmitoyltransferase II (CPT II), very long-chain acyl-CoA dehydrogenase (VLCAD), and cytochrome P450 (CYP) 2D6 genes...
  45. Vengalil S, Preethish Kumar V, Polavarapu K, Christopher R, Gayathri N, Natarajan A, et al. Fatty acid oxidation defects presenting as primary myopathy and prominent dropped head syndrome. Neuromuscul Disord. 2017;27:986-996 pubmed publisher
    ..medium chain acyl CoA dehydrogenase deficiency (MCAD)?=?4; very long chain acyl CoA dehydrogenase deficiency (VLCAD)?=?7; MADD?=?6; carnitine uptake defect and short chain acyl CoA dehydrogenase (SCAD) deficiency?=?1 each...
  46. Fukao T, Watanabe H, Orii K, Takahashi Y, Hirano A, Kondo T, et al. Myopathic form of very-long chain acyl-coa dehydrogenase deficiency: evidence for temperature-sensitive mild mutations in both mutant alleles in a Japanese girl. Pediatr Res. 2001;49:227-31 pubmed
    ..These results indicate that both mutations were temperature-sensitive mild mutations, the result being the mildest phenotype of very-long chain acyl-CoA dehydrogenase deficiency. ..
  47. Tucci S, Mingirulli N, Wehbe Z, Dumit V, Kirschner J, Spiekerkoetter U. Mitochondrial fatty acid biosynthesis and muscle fiber plasticity in very long-chain acyl-CoA dehydrogenase-deficient mice. FEBS Lett. 2018;592:219-232 pubmed publisher
    The white skeletal muscle of very long-chain acyl-CoA-dehydrogenase-deficient (VLCAD-/- ) mice undergoes metabolic modification to compensate for defective ?-oxidation in a progressive and time-dependent manner by upregulating ..
  48. Watanabe H, Orii K, Fukao T, Song X, Aoyama T, Ijlst L, et al. 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. Hum Mutat. 2000;15:430-8 pubmed
    Very long chain acyl-CoA dehydrogenase (VLCAD) deficiency is a life-threatening disorder of mitochondrial fatty acid beta-oxidation. We identified four novel mutations in three unrelated patients...
  49. Strauss A, Powell C, Hale D, Anderson M, Ahuja A, Brackett J, et al. Molecular basis of human mitochondrial very-long-chain acyl-CoA dehydrogenase deficiency causing cardiomyopathy and sudden death in childhood. Proc Natl Acad Sci U S A. 1995;92:10496-500 pubmed
    ..Very-long-chain acyl-CoA dehydrogenase [VLCAD; very-long-chain-acyl-CoA:(acceptor) 2,3-oxidoreductase, EC 1.3.99.13] catalyzes the first step in beta-oxidation...
  50. Pan Z, Chen S, Pan X, Wang Z, Han H, Zheng W, et al. Differential gene expression identified in Uigur women cervical squamous cell carcinoma by suppression subtractive hybridization. Neoplasma. 2010;57:123-8 pubmed
    ..Our results revealed that ACADVL, CEBPB, IFITM1 and DNAJC9 are involved in cervical carcinogenesis.
  51. Smith E, Proud C. cdc2-cyclin B regulates eEF2 kinase activity in a cell cycle- and amino acid-dependent manner. EMBO J. 2008;27:1005-16 pubmed publisher
    ..These data closely match the control of Ser359 phosphorylation and indicate that cdc2 may be regulated by mTORC1. ..
  52. Zhou C, Blumberg B. Overlapping gene structure of human VLCAD and DLG4. Gene. 2003;305:161-6 pubmed
    Very-long-chain acyl-CoA dehydrogenase (VLCAD) is a major enzyme catalysing the first step in mitochondrial beta-oxidation of long-chain fatty acids...
  53. Shin E, Kang H, Yang H, Jung E, Jeung E. The Regulation of Fatty Acid Oxidation in Human Preeclampsia. Reprod Sci. 2016;23:1422-33 pubmed publisher
    ..experiment using human preeclamptic placenta, expression of acyl-coenzyme A dehydrogenase very long chain (ACADVL), which is involved in fatty acid ?-oxidation (FAO), was detected...
  54. Kanabus M, Fassone E, Hughes S, Bilooei S, Rutherford T, Donnell M, et al. The pleiotropic effects of decanoic acid treatment on mitochondrial function in fibroblasts from patients with complex I deficient Leigh syndrome. J Inherit Metab Dis. 2016;39:415-426 pubmed publisher
    ..and qPCR studies suggested that treating cells with C10 supports fatty acid metabolism, through increasing ACADVL and CPT1 expression, whilst downregulating genes involved in glucose metabolism (PDK3, PDK4)...
  55. Yue Y, Zhang L, Zhang X, Li X, Yu H. De novo lipogenesis and desaturation of fatty acids during adipogenesis in bovine adipose-derived mesenchymal stem cells. In Vitro Cell Dev Biol Anim. 2018;54:23-31 pubmed publisher
    ..FA deposition-related genes (DGAT1 and ACAT1) increased until day 14. Lipolysis genes (CPT-1A, VLCAD, and ACO) showed a variant expression pattern...
  56. Andresen B, Olpin S, Poorthuis B, Scholte H, Vianey Saban C, Wanders R, et al. Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency. Am J Hum Genet. 1999;64:479-94 pubmed
    Very-long-chain acyl-CoA dehydrogenase (VLCAD) catalyzes the initial rate-limiting step in mitochondrial fatty acid beta-oxidation...
  57. Hoffmann L, Haussmann U, Mueller M, Spiekerkoetter U. VLCAD enzyme activity determinations in newborns identified by screening: a valuable tool for risk assessment. J Inherit Metab Dis. 2012;35:269-77 pubmed publisher
    ..Whereas VLCAD residual activities of less than 10% are clearly diagnostic and indicate patients at risk of clinical disease, the ..
  58. Goetzman E, Wang Y, He M, Mohsen A, Ninness B, Vockley J. Expression and characterization of mutations in human very long-chain acyl-CoA dehydrogenase using a prokaryotic system. Mol Genet Metab. 2007;91:138-47 pubmed
    Very long-chain acyl-CoA dehydrogenase (VLCAD) catalyzes the first enzymatic step in the mitochondrial beta-oxidation of fatty acids 14-20 carbons in length...
  59. Aoyama T, Souri M, Ushikubo S, Kamijo T, Yamaguchi S, Kelley R, et al. Purification of human very-long-chain acyl-coenzyme A dehydrogenase and characterization of its deficiency in seven patients. J Clin Invest. 1995;95:2465-73 pubmed
    Mitochondrial very-long-chain acyl-coenzyme A dehydrogenase (VLCAD) was purified from human liver. The molecular masses of the native enzyme and the subunit were estimated to be 154 and 70 kD, respectively...
  60. Andresen B, Bross P, Vianey Saban C, Divry P, Zabot M, Roe C, et al. Cloning and characterization of human very-long-chain acyl-CoA dehydrogenase cDNA, chromosomal assignment of the gene and identification in four patients of nine different mutations within the VLCAD gene. Hum Mol Genet. 1996;5:461-72 pubmed
    Very-long-chain acyl-CoA dehydrogenase (VLCAD) is one of four straight-chain acyl-CoA dehydrogenase (ACD) enzymes, which are all nuclear encoded mitochondrial flavoproteins catalyzing the initial step in fatty acid beta-oxidation...
  61. Schiff M, Mohsen A, Karunanidhi A, McCracken E, Yeasted R, Vockley J. Molecular and cellular pathology of very-long-chain acyl-CoA dehydrogenase deficiency. Mol Genet Metab. 2013;109:21-7 pubmed publisher
    ..All 13 patients were suspected of having VLCADD either because of abnormal NBS or suggestive clinical findings. ACADVL genomic DNA sequencing data were available for twelve of them...
  62. Evans M, Andresen B, Nation J, Boneh A. VLCAD deficiency: Follow-up and outcome of patients diagnosed through newborn screening in Victoria. Mol Genet Metab. 2016;118:282-7 pubmed publisher
    Very long chain acyl-CoA dehydrogenase (VLCAD) deficiency is an inherited metabolic disorder of fatty acid oxidation...
  63. Keuss M, Thomas Y, Mcarthur R, Wood N, Knebel A, Kurz T. Characterization of the mammalian family of DCN-type NEDD8 E3 ligases. J Cell Sci. 2016;129:1441-54 pubmed publisher
    ..Thus, the specificity between DCNL-type NEDD8 E3 enzymes and their cullin substrates is only apparent in well-defined physiological contexts and related to their subcellular distribution and restricted expression. ..
  64. Miller M, Burrage L, Gibson J, Strenk M, Lose E, Bick D, et al. Recurrent ACADVL molecular findings in individuals with a positive newborn screen for very long chain acyl-coA dehydrogenase (VLCAD) deficiency in the United States. Mol Genet Metab. 2015;116:139-45 pubmed publisher
    ..we report the molecular findings for 693 unrelated patients that sequentially received Sanger sequence analysis of ACADVL as a result of a positive NBS for VLCADD...
  65. Orii K, Aoyama T, Souri M, Orii K, Kondo N, Orii T, et al. Genomic DNA organization of human mitochondrial very-long-chain acyl-CoA dehydrogenase and mutation analysis. Biochem Biophys Res Commun. 1995;217:987-92 pubmed
    Very-long-chain acyl-CoA dehydrogenase (VLCAD) is a major enzyme catalyzing long-chain fatty acids in the first step of mitochondrial beta-oxidation system...
  66. Bouchard Mercier A, Rudkowska I, Lemieux S, Couture P, Vohl M. Polymorphisms in genes involved in fatty acid ?-oxidation interact with dietary fat intakes to modulate the plasma TG response to a fish oil supplementation. Nutrients. 2014;6:1145-63 pubmed publisher
    ..2 g EPA and 1.1 g DHA). Dietary fat intakes were measured using three-day food records. SNPs within RXRA, CPT1A, ACADVL, ACAA2, ABCD2, ACOX1 and ACAA1 genes were genotyped using TAQMAN methodology...
  67. Luo B, Zou T, Lu N, Chai F, Ye X, Wang Y, et al. Role of suppressor of cytokine signaling 3 in lipid metabolism: analysis based on a phage-display human liver cDNA library. Biochem Biophys Res Commun. 2011;416:39-44 pubmed publisher
    ..to the sequence of amino acids 644-655 of C-terminal extra-polypeptide of very-long-chain acyl-CoA dehydrogenase (VLCAD), which is 1 of 4 flavoproteins that catalyzing the initial step of the mitochondrial fatty acid ?-oxidation, ..
  68. Gobin Limballe S, Djouadi F, Aubey F, Olpin S, Andresen B, Yamaguchi S, et al. Genetic basis for correction of very-long-chain acyl-coenzyme A dehydrogenase deficiency by bezafibrate in patient fibroblasts: toward a genotype-based therapy. Am J Hum Genet. 2007;81:1133-43 pubmed
    Very-long-chain acyl-coenzyme A dehydrogenase (VLCAD) deficiency is an inborn mitochondrial fatty-acid beta-oxidation (FAO) defect associated with a broad mutational spectrum, with phenotypes ranging from fatal cardiopathy in infancy to ..
  69. Souri M, Aoyama T, Orii K, Yamaguchi S, Hashimoto T. Mutation analysis of very-long-chain acyl-coenzyme A dehydrogenase (VLCAD) deficiency: identification and characterization of mutant VLCAD cDNAs from four patients. Am J Hum Genet. 1996;58:97-106 pubmed
    Very-long-chain acyl-coenzyme A dehydrogenase (VLCAD) deficiency is a newly identified disease...
  70. Sun X, Yang Z, Wang J, Sun M, Wu S, Wang X. [Correlation between severe preeclampsia and abnormal expression of long-chain fatty acid oxidative enzyme]. Zhonghua Yi Xue Za Zhi. 2011;91:2026-9 pubmed
    ..The interacting mechanism and influence between fatty acid oxidation and the development of preeclampsia are worth further exploring. ..
  71. Aoyama T, Souri M, Ueno I, Kamijo T, Yamaguchi S, Rhead W, et al. Cloning of human very-long-chain acyl-coenzyme A dehydrogenase and molecular characterization of its deficiency in two patients. Am J Hum Genet. 1995;57:273-83 pubmed
    ..736 bp, respectively) encoding the precursor of human mitochondrial very-long-chain acyl-coenzyme A dehydrogenase (VLCAD) were cloned and sequenced...
  72. Smelt A, Poorthuis B, Onkenhout W, Scholte H, Andresen B, van Duinen S, et al. Very long chain acyl-coenzyme A dehydrogenase deficiency with adult onset. Ann Neurol. 1998;43:540-4 pubmed
    Very long chain acyl-coenzyme A (acyl-CoA) dehydrogenase (VLCAD) deficiency is a severe disorder of mitochondrial beta-oxidation in infants. We report adult onset of attacks of painful rhabdomyolysis...