Gene Symbol: ACADL
Description: acyl-CoA dehydrogenase long chain
Alias: ACAD4, LCAD, long-chain specific acyl-CoA dehydrogenase, mitochondrial, acyl-Coenzyme A dehydrogenase, long chain
Species: human
Products:     ACADL

Top Publications

  1. Illig T, Gieger C, Zhai G, Römisch Margl W, Wang Sattler R, Prehn C, et al. A genome-wide perspective of genetic variation in human metabolism. Nat Genet. 2010;42:137-41 pubmed publisher
    ..For eight out of nine replicated loci (FADS1, ELOVL2, ACADS, ACADM, ACADL, SPTLC3, ETFDH and SLC16A9), the genetic variant is located in or near genes encoding enzymes or solute carriers ..
  2. Ip B, Liu C, Lichtenstein A, von Lintig J, Wang X. Lycopene and apo-10'-lycopenoic acid have differential mechanisms of protection against hepatic steatosis in β-carotene-9',10'-oxygenase knockout male mice. J Nutr. 2015;145:268-76 pubmed publisher
    ..Sex disparity of BCO2-KO mice was observed in the outcomes of HSFD-induced liver steatosis and plasma lipids. ..
  3. Huang Y, Powers C, Madala S, Greis K, Haffey W, Towbin J, et al. Cardiac metabolic pathways affected in the mouse model of barth syndrome. PLoS ONE. 2015;10:e0128561 pubmed publisher
    ..Our results identify the critical pathways affected by the Taz-deficiency in mitochondria and establish a future framework for development of therapeutic options for BTHS. ..
  4. Kwon S, Seok S, Yau P, Li X, Kemper B, Kemper J. Obesity and aging diminish sirtuin 1 (SIRT1)-mediated deacetylation of SIRT3, leading to hyperacetylation and decreased activity and stability of SIRT3. J Biol Chem. 2017;292:17312-17323 pubmed publisher
    ..Improving mitochondrial SIRT3 functions by inhibiting SIRT3 acetylation may offer a new therapeutic approach for obesity- and aging-related diseases associated with mitochondrial dysfunction. ..
  5. Wang G, Li Y, Zhai Y, Gong L, Tian J, Hong M, et al. Theacrine protects against nonalcoholic fatty liver disease by regulating acylcarnitine metabolism. Metabolism. 2018;85:227-239 pubmed publisher
    ..deacetylase SIRT3 and consequently, the increased activity of long-chain acyl coenzyme A dehydrogenase (LCAD) through deacetylation...
  6. Uppala R, McKinney R, Brant K, Fabisiak J, Goetzman E. Nickel inhibits mitochondrial fatty acid oxidation. Biochem Biophys Res Commun. 2015;463:806-10 pubmed publisher
    ..In conclusion, inhibition of fatty acid oxidation by nickel, concurrent with increased glucose metabolism, represents a form of metabolic reprogramming that may contribute to nickel-induced carcinogenesis. ..
  7. Alaygut D, Torun Bayram M, Kasap B, Soylu A, Turkmen M, Kavukcu S. Rhabdomyolysis with different etiologies in childhood. World J Clin Pediatr. 2017;6:161-168 pubmed publisher
    ..It is important to distinguish the sporadic and recurrent rhabdomyolysis cases from each other. Recurrent rhabdomyolysis cases should follow up more regardful and attentive. ..
  8. Majerowicz D, Calderón Fernández G, Alves Bezerra M, De Paula I, Cardoso L, Juarez M, et al. Lipid metabolism in Rhodnius prolixus: Lessons from the genome. Gene. 2017;596:27-44 pubmed publisher
    ..These results provide fundamental data to be used in future research on insect lipid metabolism and its possible relevance to Chagas' disease transmission. ..
  9. 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
    ..Our results establish the capacity of our protocol for fast analysis of cellular and mitochondrial parameters by image cytometry in HDFs from patients with inherited metabolic diseases. ..

More Information

Publications126 found, 100 shown here

  1. Ohn J, Hwang J, Moon M, Ahn H, Kim H, Koo Y, et al. Small heterodimer partner (SHP) deficiency protects myocardia from lipid accumulation in high fat diet-fed mice. PLoS ONE. 2017;12:e0186021 pubmed publisher
    ..We confirmed the reduced expression of PPAR?1 and PPAR? target genes such as CD36, medium-chain acyl-CoA dehydrogenase, long-chain acyl-CoA dehydrogenase, and very long-chain acyl-CoA dehydrogenase by SHP KO after HFD. ..
  2. Cardoso A, Kakimoto P, Kowaltowski A. Diet-sensitive sources of reactive oxygen species in liver mitochondria: role of very long chain acyl-CoA dehydrogenases. PLoS ONE. 2013;8:e77088 pubmed publisher
    ..This production is stimulated by the lack of NAD(+). Overall, our studies uncover VLCAD as a novel, diet-sensitive, source of mitochondrial ROS. ..
  3. 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
    ..insufficiency significantly decreased mRNA levels of ?-oxidation-related genes such as CPT1?, PGC1?, PPAR?, VLCAD, LCAD, MCAD, and UCP1...
  4. Khodabukus A, Baar K. Glucose concentration and streptomycin alter in vitro muscle function and metabolism. J Cell Physiol. 2015;230:1226-34 pubmed publisher
    ..However, LG resulted in increases in the β-oxidation enzymes LCAD and VLCAD and the fatty acid transporter CPT-1, indicative of a greater capacity for fat oxidation...
  5. Tala A, Damiano F, Gallo G, Pinatel E, Calcagnile M, Testini M, et al. Pirin: A novel redox-sensitive modulator of primary and secondary metabolism in Streptomyces. Metab Eng. 2018;48:254-268 pubmed publisher
  6. Hoffmann L, Seibt A, Herebian D, Spiekerkoetter U. Monounsaturated 14:1n-9 and 16:1n-9 fatty acids but not 18:1n-9 induce apoptosis and necrosis in murine HL-1 cardiomyocytes. Lipids. 2014;49:25-37 pubmed publisher
  7. Wajner M, Amaral A. Mitochondrial dysfunction in fatty acid oxidation disorders: insights from human and animal studies. Biosci Rep. 2015;36:e00281 pubmed publisher
    ..The elucidation of the toxic mechanisms of these compounds may offer new perspectives for potential novel adjuvant therapeutic strategies in selected disorders of this group. ..
  8. Chowdhury M, Mesalam A, Khan I, Joo M, Lee K, Xu L, et al. Improved Developmental Competence in Embryos Treated with Lycopene during In Vitro Culture. Mol Reprod Dev. 2017;: pubmed publisher
    ..factor 9), BMP15 (Bone morphogenetic protein 15), SOD2 (Superoxide dismutase 2), NDUFA2 (NADH dehydrogenase), ACADL (Acyl-CoA dehydrogenase, long chain), and ACSL3 (Acyl-CoA synthetase 3, long-chain membrane 3) transcription ..
  9. Sun H, Liu D. Hydrodynamic delivery of interleukin 15 gene promotes resistance to high fat diet-induced obesity, fatty liver and improves glucose homeostasis. Gene Ther. 2015;22:341-7 pubmed publisher
    ..enhanced expression of genes responsible for lipolysis and glucose metabolism such as Cpt1-α, Cpt1-β, Acadm, Acadl and Glut-4...
  10. Agarwal N, Iyer D, Gabbi C, Saha P, Patel S, Mo Q, et al. HIV-1 viral protein R (Vpr) induces fatty liver in mice via LXR? and PPAR? dysregulation: implications for HIV-specific pathogenesis of NAFLD. Sci Rep. 2017;7:13362 pubmed publisher
    ..hepatic fatty acid ß-oxidation was associated with decreased mRNA expression of Ppar? and its targets Cpt1, Aox, Lcad, Ehhadh, Hsd10 and Acaa2, and blunted VLDL export with decreased expression of Mttp and its product microsomal ..
  11. Yan M, Qi H, Li J, Ye G, Shao Y, Li T, et al. Identification of SPOP related metabolic pathways in prostate cancer. Oncotarget. 2017;8:103032-103046 pubmed publisher
    ..both correlation analyses based on integrated data and cBioportal revealed that FH, ELOVL2 and ACADL genes might be involved in SPOP-mutation-related upregulation of these metabolic pathways...
  12. Diekman E, van der Pol W, Nievelstein R, Houten S, Wijburg F, Visser G. Muscle MRI in patients with long-chain fatty acid oxidation disorders. J Inherit Metab Dis. 2014;37:405-13 pubmed publisher
    ..Future studies are needed to investigate whether muscle MRI might be a useful tool to monitor disease course and to study pathogenesis of lcFAO related myopathy. ..
  13. Baruteau J, Sachs P, Broue P, Brivet M, Abdoul H, Vianey Saban C, et al. Clinical and biological features at diagnosis in mitochondrial fatty acid beta-oxidation defects: a French pediatric study of 187 patients. J Inherit Metab Dis. 2013;36:795-803 pubmed publisher
    ..The poor long-term prognoses reported are a strong argument for inclusion of FAODs in newborn screening programs. ..
  14. 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
    ..Studies in greater patient numbers are needed to correlate residual activities >10% with the genotype and the outcome. ..
  15. Yu D, Li H, Wang Y, Li C, You D, Jiang L, et al. Acyl-CoA dehydrogenase long chain expression is associated with esophageal squamous cell carcinoma progression and poor prognosis. Onco Targets Ther. 2018;11:7643-7653 pubmed publisher
    Acyl-CoA dehydrogenase long chain (ACADL) was revealed to have a correlation with malignant progression of cancer. However, whether ACADL plays a role in clinical therapy remains unclear...
  16. Potter B, Little J, Chakraborty P, Kronick J, Evans J, Frei J, et al. Variability in the clinical management of fatty acid oxidation disorders: results of a survey of Canadian metabolic physicians. J Inherit Metab Dis. 2012;35:115-23 pubmed publisher
  17. Spiekerkoetter U, Mueller M, Sturm M, Hofmann M, Schneider D. Lethal Undiagnosed Very Long-Chain Acyl-CoA Dehydrogenase Deficiency with Mild C14-Acylcarnitine Abnormalities on Newborn Screening. JIMD Rep. 2012;6:113-5 pubmed publisher
    ..Our observations are of great significance since they demonstrate the limitations of acylcarnitine analysis as screening tool for VLCAD-deficiency. ..
  18. Zheng J, Zhang Y, Hong F, Yang J, Tong F, Mao H, et al. [Screening for fatty acid oxidation disorders of newborns in Zhejiang province:prevalence, outcome and follow-up]. Zhejiang Da Xue Xue Bao Yi Xue Ban. 2017;46:248-255 pubmed
    ..PCD and SCADD are the most common FAODs in newborns in Zhejiang province. Most of FAOD patients are asymptomatic, and have normal growth and development after early intervention and management. ..
  19. Yamada K, Taketani T. Management and diagnosis of mitochondrial fatty acid oxidation disorders: focus on very-long-chain acyl-CoA dehydrogenase deficiency. J Hum Genet. 2019;64:73-85 pubmed publisher
    ..These drugs may be promising for the treatment of FAODs, though further studies are required. ..
  20. Chen Z, Liu F, Zheng N, Guo M, Bao L, Zhan Y, et al. Wuzhi capsule (Schisandra Sphenanthera extract) attenuates liver steatosis and inflammation during non-alcoholic fatty liver disease development. Biomed Pharmacother. 2019;110:285-293 pubmed publisher
    ..Western blotting was used to analyse the protein levels of PPAR-α, PPAR-γ, MCAD, LCAD, and p65 in the liver...
  21. Wilcken B. Fatty acid oxidation disorders: outcome and long-term prognosis. J Inherit Metab Dis. 2010;33:501-6 pubmed publisher
    ..Late-onset CPT II is characterised only by episodic rhabdomyolysis on severe exercise. CPT type IA deficiency may often be benign, although early presentation with hypoketotic hypoglycaemia certainly occurs. ..
  22. 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
    ..848T>C, c.342+1G>C genotype. Genotype alone remains limited in its predictive ability to determine which affected individuals are at risk for fatal complications. ..
  23. Olsen R, Dobrowolski S, Kjeldsen M, Hougaard D, Simonsen H, Gregersen N, et al. High-resolution melting analysis, a simple and effective method for reliable mutation scanning and frequency studies in the ACADVL gene. J Inherit Metab Dis. 2010;33:247-60 pubmed publisher
    ..Based on estimates of the expected disease incidence, we discuss the diagnostic accuracy of MS/MS-based newborn screening to identify VLCADD in Denmark. ..
  24. Keeler A, Conlon T, Walter G, Zeng H, Shaffer S, Dungtao F, et al. Long-term correction of very long-chain acyl-coA dehydrogenase deficiency in mice using AAV9 gene therapy. Mol Ther. 2012;20:1131-8 pubmed publisher
    ..These promising results suggest rAAV9 gene therapy as a potential treatment for VLCAD deficiency in humans. ..
  25. 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
    ..A larger prospective study is necessary to better define the clinical and metabolic ramifications of the defects identified in such patients. ..
  26. Primassin S, Tucci S, Herebian D, Seibt A, Hoffmann L, ter Veld F, et al. Pre-exercise medium-chain triglyceride application prevents acylcarnitine accumulation in skeletal muscle from very-long-chain acyl-CoA-dehydrogenase-deficient mice. J Inherit Metab Dis. 2010;33:237-46 pubmed publisher
    ..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. ..
  27. Bakermans A, van Weeghel M, Denis S, Nicolay K, Prompers J, Houten S. Carnitine supplementation attenuates myocardial lipid accumulation in long-chain acyl-CoA dehydrogenase knockout mice. J Inherit Metab Dis. 2013;36:973-81 pubmed publisher
    ..carnitine supplementation in an animal model of long-chain FAO deficiency, the long-chain acyl-CoA dehydrogenase (LCAD) knockout (KO) mouse...
  28. Kerner J, Yohannes E, Lee K, Virmani A, Koverech A, Cavazza C, et al. Acetyl-L-carnitine increases mitochondrial protein acetylation in the aged rat heart. Mech Ageing Dev. 2015;145:39-50 pubmed publisher
    ..Collectively, our data provide evidence for the first time that in the aged rat heart in vivo administration of acetylcarnitine provides acetyl groups for protein acetylation and affects the amount of mitochondrial proteins. ..
  29. Li Z, Zhai Y, Fang J, Zhou Q, Geng Y, Sun F. Purification, crystallization and preliminary crystallographic analysis of very-long-chain acyl-CoA dehydrogenase from Caenorhabditis elegans. Acta Crystallogr Sect F Struct Biol Cryst Commun. 2010;66:426-30 pubmed publisher
    ..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%. ..
  30. Alrob O, Sankaralingam S, Ma C, Wagg C, Fillmore N, Jaswal J, et al. Obesity-induced lysine acetylation increases cardiac fatty acid oxidation and impairs insulin signalling. Cardiovasc Res. 2014;103:485-97 pubmed publisher
    ..05). Activities of the fatty acid oxidation enzymes, long-chain acyl-CoA dehydrogenase (LCAD), and ?-hydroxyacyl-CoA dehydrogenase (?-HAD) were increased in hearts from HFD vs...
  31. Brown A, Crowe L, Andresen B, Anderson V, Boneh A. Neurodevelopmental profiles of children with very long chain acyl-CoA dehydrogenase deficiency diagnosed by newborn screening. Mol Genet Metab. 2014;113:278-82 pubmed publisher
    ..VLCAD deficiency does not have a significant impact on cognitive or motor skills. Some children may be vulnerable to speech, social and behavioural issues. ..
  32. Hesse J, Braun C, Behringer S, Matysiak U, Spiekerkoetter U, Tucci S. The diagnostic challenge in very-long chain acyl-CoA dehydrogenase deficiency (VLCADD). J Inherit Metab Dis. 2018;41:1169-1178 pubmed publisher
  33. Takahashi Y, Sano R, Nakajima T, Kominato Y, Kubo R, Takahashi K, et al. Combination of postmortem mass spectrometry imaging and genetic analysis reveals very long-chain acyl-CoA dehydrogenase deficiency in a case of infant death with liver steatosis. Forensic Sci Int. 2014;244:e34-7 pubmed publisher
    ..Thus, the deceased might have been vulnerable to energy crisis and sudden infant death. The present findings show that MALDI-IMS analysis as well as genetic analysis can be useful for elucidating the cause of death. ..
  34. Burrage L, Miller M, Wong L, Kennedy A, Sutton V, Sun Q, et al. Elevations of C14:1 and C14:2 Plasma Acylcarnitines in Fasted Children: A Diagnostic Dilemma. J Pediatr. 2016;169:208-13.e2 pubmed publisher
    ..Both metabolomics analysis and/or C14:1/C12:1 may distinguish C14:1 elevations from physiologic fasting-induced lipolysis vs VLCAD deficiency. ..
  35. Li Z, Heng J, Yan J, Guo X, Tang L, Chen M, et al. Integrated analysis of gene expression and methylation profiles of 48 candidate genes in breast cancer patients. Breast Cancer Res Treat. 2016;160:371-383 pubmed
    ..Total 23 genes (ACADL, APC, BRCA2, CADM1, CAV1, CCND2, CST6, EGFR, ESR2, GSTP1, ICAM5, NPY, PGR, PTGS2, RECK, RUNX3, SFRP1, SOX17, SYK, ..
  36. Zhang Y, Bharathi S, Rardin M, Uppala R, Verdin E, Gibson B, et al. SIRT3 and SIRT5 regulate the enzyme activity and cardiolipin binding of very long-chain acyl-CoA dehydrogenase. PLoS ONE. 2015;10:e0122297 pubmed publisher
    ..Regulation of cardiolipin binding by reversible lysine acylation is a novel mechanism that is predicted to extrapolate to other metabolic proteins that localize to the inner mitochondrial membrane. ..
  37. Song Y, Tan X, Pan Y, Zhang L, Chen Q. Fatty Acid ?-Oxidation Is Essential in Leptin-Mediated Oocytes Maturation of Yellow Catfish Pelteobagrus fulvidraco. Int J Mol Sci. 2018;19: pubmed publisher
    ..changes in the expression of genes, including twenty-five up-regulated genes (CPT1, Acsl, Acadl, Acadm, Hadhb, Echsl, Hsd17b4, Acca, PPAR?, CYP8B1, ACOX1
  38. Lin X, Hamilton Williams E, Rainbow D, Hunter K, Dai Y, Cheung J, et al. Genetic interactions among Idd3, Idd5.1, Idd5.2, and Idd5.3 protective loci in the nonobese diabetic mouse model of type 1 diabetes. J Immunol. 2013;190:3109-20 pubmed publisher
    ..1/Ctla4, Idd5.2/Slc11a1, and Idd5.3/Acadl, yet it is unknown which of them interacts with Idd3/Il2...
  39. Tucci S, Flögel U, Spiekerkoetter U. Sexual dimorphism of lipid metabolism in very long-chain acyl-CoA dehydrogenase deficient (VLCAD-/-) mice in response to medium-chain triglycerides (MCT). Biochim Biophys Acta. 2015;1852:1442-50 pubmed publisher
    ..How these metabolic adaptations are finally regulated needs to be determined. More important, the relevance of these findings for humans under these dietary modifications needs to be investigated. ..
  40. Day T, Mewani R, Starr J, Li X, Chakravarty D, Ressom H, et al. Transcriptome and Proteome Analyses of TNFAIP8 Knockdown Cancer Cells Reveal New Insights into Molecular Determinants of Cell Survival and Tumor Progression. Methods Mol Biol. 2017;1513:83-100 pubmed
    ..g., IL-24, FAT3, LPHN2, EPHA3) and fatty acid oxidation gene ACADL, and decreased mRNA levels of oncogenes (e.g...
  41. Hamilton Williams E, Cheung J, Rainbow D, Hunter K, Wicker L, Sherman L. Cellular mechanisms of restored β-cell tolerance mediated by protective alleles of Idd3 and Idd5. Diabetes. 2012;61:166-74 pubmed publisher
    ..alleles encoding IL-2, Idd3 candidate gene, CTLA-4, NRAMP1, and acetyl-coenzyme A dehydrogenase, long-chain (ACADL) (candidate genes for the Idd5.1, Idd5.2, and Idd5.3 subregions) provide nearly complete diabetes protection...
  42. Scalais E, Bottu J, Wanders R, Ferdinandusse S, Waterham H, De Meirleir L. Familial very long chain acyl-CoA dehydrogenase deficiency as a cause of neonatal sudden infant death: improved survival by prompt diagnosis. Am J Med Genet A. 2015;167A:211-4 pubmed publisher
    ..It shows that very early metabolic screening is an effective approach to avoid sudden unexpected death. ..
  43. Cui H, Xie N, Banerjee S, Ge J, Guo S, Liu G. Impairment of Fatty Acid Oxidation in Alveolar Epithelial Cells Mediates Acute Lung Injury. Am J Respir Cell Mol Biol. 2019;60:167-178 pubmed publisher
    ..In summary, these data suggest that FAO is essential to AEC bioenergenesis and functional homeostasis. This study also indicates that FAO impairment-induced AEC dysfunction is an important contributing factor to the pathogenesis of ALI. ..
  44. 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 publisher
    ..with increased PPARα, very long-chain acyl-CoA dehydrogenase (VLCAD) and long-chain acyl-CoA dehydrogenase (LCAD) expressions. Clofibrate is protective against renal lipotoxicity in PAN nephrosis...
  45. Chen T, Liu J, Li N, Wang S, Liu H, Li J, et al. Mouse SIRT3 attenuates hypertrophy-related lipid accumulation in the heart through the deacetylation of LCAD. PLoS ONE. 2015;10:e0118909 pubmed publisher
    ..hearts and that this change was accompanied by a higher acetylation level of long-chain acyl CoA dehydrogenase (LCAD), which is a key enzyme participating in fatty acid oxidation...
  46. Jiang M, Liu L, Mei H, Li X, Cheng J, Cai Y. Detection of inborn errors of metabolism using GC-MS: over 3 years of experience in southern China. J Pediatr Endocrinol Metab. 2015;28:375-80 pubmed publisher
    ..Urease pretreatment is useful for the diagnosis of NICCD. In southern China, the majority of IEM were amino acid disorders and organic acid disorders. FAO disorders were relatively rare, which we need to investigate further. ..
  47. Deminice R, de Castro G, Francisco L, da Silva L, Cardoso J, Frajacomo F, et al. Creatine supplementation prevents fatty liver in rats fed choline-deficient diet: a burden of one-carbon and fatty acid metabolism. J Nutr Biochem. 2015;26:391-7 pubmed publisher
    ..Further, the downstream targets and fatty acids metabolism genes, UCP2, LCAD and CPT1a, were also normalized in the Cr group as compared to CDD-fed rats...
  48. Kakimoto P, Tamaki F, Cardoso A, Marana S, Kowaltowski A. H2O2 release from the very long chain acyl-CoA dehydrogenase. Redox Biol. 2015;4:375-80 pubmed publisher
    ..Our results add to a number of findings indicating that sources outside of the electron transport chain can generate significant, physiopathologically relevant, amounts of oxidants in mitochondria. ..
  49. 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
    ..Overall, this study provides biochemical evidence for a potential therapeutic modality to correct β-oxidation deficiencies. ..
  50. Regueira M, Riera M, Galardo M, Camberos M, Pellizzari E, Cigorraga S, et al. FSH and bFGF regulate the expression of genes involved in Sertoli cell energetic metabolism. Gen Comp Endocrinol. 2015;222:124-33 pubmed publisher
    ..CD36 (FAT/CD36), carnitine-palmitoyltransferase 1 (CPT1), long- and medium-chain 3-hydroxyacyl-CoA dehydrogenases (LCAD, MCAD), and of genes involved in mitochondrial biogenesis such as: nuclear respiratory factors 1 and 2 (NRF1, NRF2) ..
  51. Brown A, Crowe L, Boneh A, Anderson V. Parent Coping and the Behavioural and Social Outcomes of Children Diagnosed with Inherited Metabolic Disorders. JIMD Rep. 2017;31:29-36 pubmed publisher
    ..Early identification of issues in these domains may enhance referral for therapeutic interventions and family support programmes. ..
  52. 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
    ..These results indicate that PPAR? activation plays defensive and compensative roles by reducing cellular toxicity associated with fatty acids and sulfuric acid. ..
  53. Huang D, Li T, Li X, Zhang L, Sun L, He X, et al. HIF-1-mediated suppression of acyl-CoA dehydrogenases and fatty acid oxidation is critical for cancer progression. Cell Rep. 2014;8:1930-1942 pubmed publisher
    ..a PGC-1β-mediated pathway by which HIF-1 inhibits the medium- and long-chain acyl-CoA dehydrogenases (MCAD and LCAD), resulting in decreased reactive oxygen species levels and enhanced proliferation...
  54. Tucci S, Floegel U, Beermann F, Behringer S, Spiekerkoetter U. Triheptanoin: long-term effects in the very long-chain acyl-CoA dehydrogenase-deficient mouse. J Lipid Res. 2017;58:196-207 pubmed publisher
    ..Despite this, the hepatic lipic content was increased upon triheptanoin supplementation. Our data demonstrate that the concept of anaplerosis does not apply to all tissues equally. ..
  55. Tucci S, Krogmann A, Herebian D, Spiekerkoetter U. Renal response to short- and long-term exercise in very-long-chain acyl-CoA dehydrogenase-deficient (VLCAD(-/-)) mice. Mol Cell Pediatr. 2014;1:5 pubmed publisher
    ..Our data demonstrate that despite Acadvl ablation, the kidney of VLCAD(-/-) mice fully compensates for impaired fatty acid oxidation by enhanced glycogen utilization and preserves renal energy metabolism and function. ..
  56. Tucci S. Very long-chain acyl-CoA dehydrogenase (VLCAD-) deficiency-studies on treatment effects and long-term outcomes in mouse models. J Inherit Metab Dis. 2017;40:317-323 pubmed publisher
    ..While long term use of MCT oil in mice has adverse effects, no such effects have been demonstrated in humans, likely reflecting the differences in long chain fatty acid oxidation between the two species. ..
  57. Otsubo C, Bharathi S, Uppala R, Ilkayeva O, Wang D, McHugh K, et al. Long-chain Acylcarnitines Reduce Lung Function by Inhibiting Pulmonary Surfactant. J Biol Chem. 2015;290:23897-904 pubmed publisher
    ..observed reduced lung function in mice lacking the fatty acid oxidation enzyme long-chain acyl-CoA dehydrogenase (LCAD)...
  58. Ashmore T, Roberts L, Morash A, Kotwica A, Finnerty J, West J, et al. Nitrate enhances skeletal muscle fatty acid oxidation via a nitric oxide-cGMP-PPAR-mediated mechanism. BMC Biol. 2015;13:110 pubmed publisher
    ..In C2C12 myotubes, nitrate increased expression of the PPARα targets Cpt1b, Acadl, Hadh and Ucp3, and enhanced oxidative phosphorylation rates with palmitoyl-carnitine; however, these changes in ..
  59. Park S, Shin S, Lim Y, Shin J, Seong J, Han S. Korean Pine Nut Oil Attenuated Hepatic Triacylglycerol Accumulation in High-Fat Diet-Induced Obese Mice. Nutrients. 2016;8: pubmed publisher
    ..PNO consumption upregulated hepatic ACADL mRNA levels. The hepatic PPARG mRNA level was lower in the PC than in the SC...
  60. 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
    ..Long-term follow-up studies are needed to establish the risk of these VLCADD-deficient individuals for developing clinical signs and symptoms. ..
  61. Lagoutte Renosi J, Ségalas Milazzo I, Crahes M, Renosi F, Menu Bouaouiche L, Torre S, et al. Lethal Neonatal Progression of Fetal Cardiomegaly Associated to ACAD9 Deficiency. JIMD Rep. 2015;: pubmed
    ..1030-1G>T mutation generating a non-degraded truncated protein and the p.Arg417Cys, creating an aberrant dimer. Our results underscore the crucial role of ACAD9 protein for cardiac function. ..
  62. Thapa D, Zhang M, Manning J, Guimaraes D, Stoner M, O Doherty R, et al. Acetylation of mitochondrial proteins by GCN5L1 promotes enhanced fatty acid oxidation in the heart. Am J Physiol Heart Circ Physiol. 2017;313:H265-H274 pubmed publisher
    ..Here, we provide new evidence that acetylation of cardiac mitochondrial fatty acid oxidation enzymes by GCN5L1 significantly upregulates their activity in diet-induced obese mice. ..
  63. Xu B, Jiang M, Chu Y, Wang W, Chen D, Li X, et al. Gasdermin D plays a key role as a pyroptosis executor of non-alcoholic steatohepatitis in humans and mice. J Hepatol. 2018;68:773-782 pubmed publisher
    ..gene Srebp1c (Srebf1) and upregulated expression of lipolytic genes, including Pparα, Aco [Klk15], Lcad [Acadl], Cyp4a10 and Cyp4a14...
  64. Welsink Karssies M, Polderman J, Nieveen van Dijkum E, Preckel B, Schlack W, Visser G, et al. Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency and Perioperative Management in Adult Patients. JIMD Rep. 2017;34:49-54 pubmed publisher
    ..The patient was monitored with a continuous glucose meter and creatinine kinase measurements. ..
  65. Mullaney J, Stephens J, Costello M, Fong C, Geeling B, Gavin P, et al. Type 1 diabetes susceptibility alleles are associated with distinct alterations in the gut microbiota. Microbiome. 2018;6:35 pubmed publisher
    ..Introduction of disease protective alleles at the Idd3 and Idd5 loci (IL2, Ctla4, Slc11a1, and Acadl) resulted in significant alterations in the NOD microbiome...
  66. Honda K, Saneyasu T, Sugimoto H, Kurachi K, Takagi S, Kamisoyama H. Role of peroxisome proliferator-activated receptor alpha in the expression of hepatic fatty acid oxidation-related genes in chickens. Anim Sci J. 2016;87:61-6 pubmed publisher
    ..1a (CPT1a) and acyl-coenzyme A oxidase (ACO), but not long-, middle- and short-chain acyl-coenzyme A dehydrogenase (LCAD, MCAD and SCAD, respectively), hydroxyacyl-coenzyme A dehydrogenase (HAD), and PPARα itself in chicken hepatoma ..
  67. 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
    ..Our data raise the question of whether long-term MCFA supplementation represents the most efficient treatment in the long term. Studies on the hepatic toxicity of triheptanoin are still ongoing. ..
  68. 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
    ..Collectively, our data illustrate the molecular heterogeneity of VLCADD and provide novel insight into the outcomes of NBS for this disorder. ..
  69. 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
    ..Thus, CAM suppresses NF-?B-mediated proinflammatory cytokine production by interacting with mitochondrial proteins, NIP-SNAP-1 and -2. ..
  70. Shinde A, Luo J, Bharathi S, Shi H, Beck M, McHugh K, et al. Increased mortality from influenza infection in long-chain acyl-CoA dehydrogenase knockout mice. Biochem Biophys Res Commun. 2018;497:700-704 pubmed publisher
    We previously showed that the mitochondrial fatty acid oxidation enzyme long-chain acyl-CoA dehydrogenase (LCAD) is expressed in alveolar type II pneumocytes and that LCAD-/- mice have altered breathing mechanics and surfactant defects...
  71. Gan L, Liu Z, Cao W, Zhang Z, Sun C. FABP4 reversed the regulation of leptin on mitochondrial fatty acid oxidation in mice adipocytes. Sci Rep. 2015;5:13588 pubmed publisher
    ..fatty acid oxidation enzyme medium-chain acyl-CoA dehydrogenase (MCAD), long-chain acyl-CoA dehydrogenase (LCAD) and Cyt C levels were reduced in response to the overexpression of FABP4...
  72. Ørngreen M. Substrate kinetics in patients with disorders of skeletal muscle metabolism. Dan Med J. 2016;63: pubmed
    ..The following studies emphasize the importance of skeletal muscle in production of energy, both when skeletal muscle lack important metabolic enzymes (metabolic myopathies), and when skeletal muscle mass is low. ..
  73. Cabon L, Bertaux A, Brunelle Navas M, Nemazanyy I, Scourzic L, Delavallée L, et al. AIF loss deregulates hematopoiesis and reveals different adaptive metabolic responses in bone marrow cells and thymocytes. Cell Death Differ. 2018;25:983-1001 pubmed publisher
    ..By over-expressing CPT1, ACADL and PDK4, three key enzymes facilitating fatty acid β-oxidation (e.g...
  74. Sala P, Ruijter G, Acquaviva C, Chabli A, de Sain van der Velden M, Garcia Villoria J, et al. Pilot Experience with an External Quality Assurance Scheme for Acylcarnitines in Plasma/Serum. JIMD Rep. 2016;30:23-31 pubmed
    ..However, some of these laboratories suggested further analyses to clarify the diagnosis.This pilot experience highlights the importance of an EQA scheme for AC in plasma. ..
  75. Fukushima A, Alrob O, Zhang L, Wagg C, Altamimi T, Rawat S, et al. Acetylation and succinylation contribute to maturational alterations in energy metabolism in the newborn heart. Am J Physiol Heart Circ Physiol. 2016;311:H347-63 pubmed publisher
    ..The fatty acid oxidation enzymes, long-chain acyl-CoA dehydrogenase (LCAD) and ?-hydroxyacyl-CoA dehydrogenase (?-HAD), were hyperacetylated with maturation, positively correlated with ..
  76. 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
    ..However, severe clinical manifestations developed in some patients, indicating that careful, life-long observation is warranted in all FAODs patients. ..
  77. Bleeker J, Kok I, Ferdinandusse S, De Vries M, Derks T, Mulder M, et al. Proposal for an individualized dietary strategy in patients with very long-chain acyl-CoA dehydrogenase deficiency. J Inherit Metab Dis. 2018;: pubmed publisher
    ..Hereby, we propose an individualized dietary strategy based on the LC-FAO flux score. ..
  78. 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
    ..Hence, the liaison between neurologists, rheumatologists and metabolic physicians is essential in early diagnosis and the management of patients with conditions causing myopathy. ..
  79. Landau Y, Waisbren S, Chan L, Levy H. Long-term outcome of expanded newborn screening at Boston children's hospital: benefits and challenges in defining true disease. J Inherit Metab Dis. 2017;40:209-218 pubmed publisher
    ..The future challenge will be to unequivocally differentiate the disorders most benefitting from ENBS and adjust programs accordingly. ..
  80. 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
    ..The results of this study will be instrumental in the routine implementation of expanded NBS in Slovenia. ..
  81. Sun Y, Tian Z, Liu N, Zhang L, Gao Z, Sun X, et al. Exogenous H2S switches cardiac energy substrate metabolism by regulating SIRT3 expression in db/db mice. J Mol Med (Berl). 2018;96:281-299 pubmed publisher
    ..As a result of activation of SIRT3, the acetylation level and activity of fatty acid β-oxidation enzyme LCAD and the acetylation of glucose oxidation enzymes PDH, IDH2, and CS were reduced which resulted in activation of PDH,..
  82. 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. 2019;46:91-96 pubmed publisher
    ..Interestingly, sequence analysis shows high homology between ACDH-12 and the human ACAD9, a protein that has initially been identified as a VLCAD, but later found to also be involved in the assembly of complex I in human. ..
  83. Rudolf J, Dong L, Huang T, Shen B. A genetically amenable platensimycin- and platencin-overproducer as a platform for biosynthetic explorations: a showcase of PtmO4, a long-chain acyl-CoA dehydrogenase. Mol Biosyst. 2015;11:2717-26 pubmed publisher
    ..SB12029 sets the stage for future biosynthetic and bioengineering studies of the PTM and PTN family of natural products. ..
  84. 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 represent a founder mutation in the Korean population and be associated with the milder phenotype of VLCADD. ..
  85. Lee A, Han S. Pinolenic Acid Downregulates Lipid Anabolic Pathway in HepG2 Cells. Lipids. 2016;51:847-55 pubmed publisher fatty acid biosynthesis (SREBP1c, FAS, SCD1, and ACC1), fatty acid oxidation (ACC2, PPARα, CPT1A, and ACADL), cholesterol synthesis (SREBP2 and HMGCR), and lipoprotein uptake (LDLr) and of genes that may be involved in the ..
  86. Liu R, Wang H, Liu J, Wang J, Zheng M, Tan X, et al. Uncovering the embryonic development-related proteome and metabolome signatures in breast muscle and intramuscular fat of fast-and slow-growing chickens. BMC Genomics. 2017;18:816 pubmed publisher
    ..For IMF, several rate-limiting enzymes for beta-oxidation of fatty acid (ACADL, ACAD9, HADHA and HADHB) were identified as candidate biomarkers for IMF deposition in both breeds...
  87. 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
    ..Thus, the MCL-1 BH3 interaction with VLCAD revealed a separable, gain-of-function role for MCL-1 in the regulation of lipid metabolism. ..
  88. 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%). ..
  89. 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
    ..Our study shows that muscle may undergo adaptive mechanisms that are modulated by dietary supplementation. We describe for the first time a concomitant change of mFASII in this muscular adaptation process. ..
  90. Lea W, Abbas A, Sprecher H, Vockley J, Schulz H. Long-chain acyl-CoA dehydrogenase is a key enzyme in the mitochondrial beta-oxidation of unsaturated fatty acids. Biochim Biophys Acta. 2000;1485:121-8 pubmed
    ..and 4-cis-decenoic acid were effectively dehydrogenated by both rat and human long-chain acyl-CoA dehydrogenases (LCAD), whereas they were poor substrates of very long-chain acyl-CoA dehydrogenases (VLCAD)...
  91. Hong M, Karlsson R, Magnusson P, Lewis M, Isaacs W, Zheng L, et al. A genome-wide assessment of variability in human serum metabolism. Hum Mutat. 2013;34:515-24 pubmed publisher
    ..Seven replicating loci were identified (PYROXD2, FADS1, PON1, CYP4F2, UGT1A8, ACADL, and LIPC) with associated sequence variants contributing significantly to trait variance for one or more ..
  92. Bharathi S, Zhang Y, Mohsen A, Uppala R, Balasubramani M, Schreiber E, et al. Sirtuin 3 (SIRT3) protein regulates long-chain acyl-CoA dehydrogenase by deacetylating conserved lysines near the active site. J Biol Chem. 2013;288:33837-47 pubmed publisher
    Long-chain acyl-CoA dehydrogenase (LCAD) is a key mitochondrial fatty acid oxidation enzyme...