Genomes and Genes
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
- 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. ..
- 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. ..
- 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. ..
- 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)...
- 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...
- 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 PPARÎ± targets Cpt1b, Acadl, Hadh and Ucp3, and enhanced oxidative phosphorylation rates with palmitoyl-carnitine; however, these changes in ..
- 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. ..
- 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. ..
- Lagoutte Renosi J, SÃ©galas 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. ..
- 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. ..
- 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. 2017;: pubmed publisher..gene Srebp1c (Srebf1) and upregulated expression of lipolytic genes, including PparÎ±, Aco [Klk15], Lcad [Acadl], Cyp4a10 and Cyp4a14...
- 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. ..
- 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...
- 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. ..
- 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 PPARÎ± itself in chicken hepatoma ..
- 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. ..
- Tucci S, Behringer S, Spiekerkoetter U. DeÂ 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. ..
- 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 publisherWe 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...
- 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. ..
- 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...
- Cabon L, Bertaux A, Brunelle Navas M, Nemazanyy I, Scourzic L, DelavallÃ©e 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 Î²-oxidation (e.g...
- 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...
- 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. ..
- 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. ..
- 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. ..
- 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 ..
- 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. ..
- 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..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. ..
- 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. ..
- 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 Î²-oxidation enzyme LCAD and the acetylation of glucose oxidation enzymes PDH, IDH2, and CS were reduced which resulted in activation of PDH,..
- 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. ..
- 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...
- StÄ™pieÅ„ 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. ..
- 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. ..
- Lee A, Han S. Pinolenic Acid Downregulates Lipid Anabolic Pathway in HepG2 Cells. Lipids. 2016;51:847-55 pubmed publisher..to fatty acid biosynthesis (SREBP1c, FAS, SCD1, and ACC1), fatty acid oxidation (ACC2, PPARÎ±, CPT1A, and ACADL), cholesterol synthesis (SREBP2 and HMGCR), and lipoprotein uptake (LDLr) and of genes that may be involved in the ..
- 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. ..
- 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...
- 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. ..
- 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. ..
- 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. ..
- 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%). ..
- 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. ..
- Jiang P, Zhang X, Huang Y, Cheng N, Ma Y. Hepatotoxicity Induced by Sophora flavescens and Hepatic Accumulation of Kurarinone, a Major Hepatotoxic Constituent of Sophora flavescens in Rats. Molecules. 2017;22: pubmed publisher..was conducted and real-time PCR was used to determine the expression levels of CPT-1, CPT-2, PPAR-?, and LCAD genes. Effects of kurarinone on triglyceride levels were evaluated in HL-7702 cells...
- 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 publisherLong-chain acyl-CoA dehydrogenase (LCAD) is a key mitochondrial fatty acid oxidation enzyme...
- 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 ..
- Lou P, Lucchinetti E, Scott K, Huang Y, Gandhi M, Hersberger M, et al. Alterations in fatty acid metabolism and sirtuin signaling characterize early type-2 diabetic hearts of fructose-fed rats. Physiol Rep. 2017;5: pubmed publisher..Along with increased oxidative stress, this may represent one of the earliest signs of dysfunction that will ultimately lead to inflammation and remodeling in the diabetic heart. ..
- 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. ..
- 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)...
- Wanders R, Denis S, Ruiter J, Ijlst L, Dacremont G. 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. Biochim Biophys Acta. 1998;1393:35-40 pubmed..The physiological role of long-chain acyl-CoA dehydrogenase (LCAD) has remained obscure, however...
- Costa C, Verhoeven N, Kneepkens C, Douwes A, Wanders R, de Almeida I, et al. Organic acid profiles resembling a beta-oxidation defect in two patients with coeliac disease. J Inherit Metab Dis. 1996;19:177-80 pubmed
- Indo Y, Yang Feng T, Glassberg R, Tanaka K. Molecular cloning and nucleotide sequence of cDNAs encoding human long chain acyl-CoA dehydrogenase and assignment of its gene to chromosome 2. Prog Clin Biol Res. 1992;375:161-7 pubmed
- Rueedi R, Ledda M, Nicholls A, Salek R, Marques Vidal P, Morya E, et al. Genome-wide association study of metabolic traits reveals novel gene-metabolite-disease links. PLoS Genet. 2014;10:e1004132 pubmed publisher..The replication of previous associations and our new discoveries demonstrate the potential of untargeted metabolomics GWAS to robustly identify molecular disease markers. ..
- 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 ..
- Hale D, Batshaw M, Coates P, Frerman F, Goodman S, Singh I, et al. Long-chain acyl coenzyme A dehydrogenase deficiency: an inherited cause of nonketotic hypoglycemia. Pediatr Res. 1985;19:666-71 pubmed..abstract truncated at 250 words) ..
- Chen Q, Niu L, Hua C, Geng Y, Cai L, Tao S, et al. Chronic dexamethasone exposure markedly decreased the hepatic triglyceride accumulation in growing goats. Gen Comp Endocrinol. 2018;259:115-121 pubmed publisher..of sterol regulatory element binding transcription factor 1 (SREBP-1), acyl-CoA dehydrogenase long chain (ACADL) and acyl-CoA synthetase bubblegum family member 1 (ACSBG1) genes in liver was significantly up-regulated by ..
- Jernberg J, Bowman C, Wolfgang M, Scafidi S. Developmental regulation and localization of carnitine palmitoyltransferases (CPTs) in rat brain. J Neurochem. 2017;142:407-419 pubmed publisher..Read the Editorial Comment for this article on page 347...
- Maher A, Mohsen A, Vockley J, Tarnopolsky M. Low expression of long-chain acyl-CoA dehydrogenase in human skeletal muscle. Mol Genet Metab. 2010;100:163-7 pubmed publisherLong-chain acyl-CoA dehydrogenase (LCAD) is a mitochondrial flavoenzyme thought to be one of the major enzymes responsible for the first step of long-chain fatty acid (LCFA) beta-oxidation...
- 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..Despite early diagnosis and treatment, the outcome of VLCAD deficiency in this Saudi Arabian population remains poor. Preventive measures, such as prenatal diagnosis, could be implemented. ..
- 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. ..
- Zhang Z, Zhou Y, Mendelsohn N, Bauer G, Strauss A. Regulation of the human long chain acyl-CoA dehydrogenase gene by nuclear hormone receptor transcription factors. Biochim Biophys Acta. 1997;1350:53-64 pubmed..Long chain acyl-CoA dehydrogenase (LCAD) catalyzes the first step in the beta-oxidation spiral...
- 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..9-2.4Â Î¼mol/L, on NBS are at very low risk of clinically significant childhood disease. A minimally interventional approach to managing these patients is indicated, at least in the New Zealand population. ..
- 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 ..
- 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..Functional testing, including fibroblast acylcarnitine profiling and white blood cell or fibroblast enzyme assay, is a useful diagnostic adjunct if uncharacterized mutations are identified. ..
- Indo Y, Yang Feng T, Glassberg R, Tanaka K. Molecular cloning and nucleotide sequence of cDNAs encoding human long-chain acyl-CoA dehydrogenase and assignment of the location of its gene (ACADL) to chromosome 2. Genomics. 1992;12:626 pubmed
- Indo Y, Yang Feng T, Glassberg R, Tanaka K. Molecular cloning and nucleotide sequence of cDNAs encoding human long-chain acyl-CoA dehydrogenase and assignment of the location of its gene (ACADL) to chromosome 2. Genomics. 1991;11:609-20 pubmedLong-chain acyl-CoA dehydrogenase (LCAD) catalyzes the first reaction of the mitochondrial beta-oxidation of fatty acids. We isolated and sequenced three cDNA clones encoding human LCAD precursor (p)...
- Abe T, Fujino T, Fukuyama R, Minoshima S, Shimizu N, Toh H, et al. Human long-chain acyl-CoA synthetase: structure and chromosomal location. J Biochem. 1992;111:123-8 pubmed
- Indo Y, Coates P, Hale D, Tanaka K. Immunochemical characterization of variant long-chain acyl-CoA dehydrogenase in cultured fibroblasts from nine patients with long-chain acyl-CoA dehydrogenase deficiency. Pediatr Res. 1991;30:211-5 pubmedLong-chain acyl-CoA dehydrogenase (LCAD) deficiency is a disorder of mitochondrial fatty acid oxidation that is characterized by hypoglycemia, muscle weakness, and hepato- and cardiomegaly...
- Mayatepek E, Flock B. Increased urinary excretion of LTB4 and omega-carboxy-LTB4 in patients with Zellweger syndrome. Clin Chim Acta. 1999;282:151-5 pubmed..Analysis of urinary leukotrienes represents an additional diagnostic tool in peroxisome deficiency disorders. Furthermore, these results clearly underline the essential role of peroxisomes in the oxidation of LTB4 in humans...
- Goetzman E, Alcorn J, Bharathi S, Uppala R, McHugh K, Kosmider B, et al. Long-chain acyl-CoA dehydrogenase deficiency as a cause of pulmonary surfactant dysfunction. J Biol Chem. 2014;289:10668-79 pubmed publisherLong-chain acyl-CoA dehydrogenase (LCAD) is a mitochondrial fatty acid oxidation enzyme whose expression in humans is low or absent in organs known to utilize fatty acids for energy such as heart, muscle, and liver...
- Treem W, Stanley C, Hale D, Leopold H, Hyams J. Hypoglycemia, hypotonia, and cardiomyopathy: the evolving clinical picture of long-chain acyl-CoA dehydrogenase deficiency. Pediatrics. 1991;87:328-33 pubmed..This report stresses the enlarging spectrum of the clinical presentation and natural history of this defect in fatty acid oxidation. ..
- 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..Hitherto, unreported we describe "dropped head syndrome" as a prominent phenomenon in MCAD and VLCAD. The presence of ptosis and bulbar weakness in fatty acid oxidation defects expands the clinical spectrum. ..