CPT2

Summary

Gene Symbol: CPT2
Description: carnitine palmitoyltransferase 2
Alias: CPT1, CPTASE, IIAE4, carnitine O-palmitoyltransferase 2, mitochondrial, CPT II, carnitine palmitoyltransferase II, testicular secretory protein Li 13
Species: human
Products:     CPT2

Top Publications

  1. Sigauke E, Rakheja D, Kitson K, Bennett M. Carnitine palmitoyltransferase II deficiency: a clinical, biochemical, and molecular review. Lab Invest. 2003;83:1543-54 pubmed
    ..The adult CPT II clinical phenotype is somewhat benign and requires additional external triggers such as high-intensity exercise ..
  2. Verderio E, Cavadini P, Montermini L, Wang H, Lamantea E, Finocchiaro G, et al. Carnitine palmitoyltransferase II deficiency: structure of the gene and characterization of two novel disease-causing mutations. Hum Mol Genet. 1995;4:19-29 pubmed
    ..To facilitate the identification of disease-causing mutations in the CPT II gene (CPT1), we have established the genomic organization of this gene...
  3. Yao D, Mizuguchi H, Yamaguchi M, Yamada H, Chida J, Shikata K, et al. Thermal instability of compound variants of carnitine palmitoyltransferase II and impaired mitochondrial fuel utilization in influenza-associated encephalopathy. Hum Mutat. 2008;29:718-27 pubmed publisher
    ..during high fever, exhibit a thermolabile phenotype of compound homo-/heterozygous variants of carnitine palmitoyltransferase II (CPT II, gene symbol CPT2)...
  4. Bonnefont J, Demaugre F, Prip Buus C, Saudubray J, Brivet M, Abadi N, et al. Carnitine palmitoyltransferase deficiencies. Mol Genet Metab. 1999;68:424-40 pubmed
    ..The CPT system is made up of two separate proteins located in the outer- (CPT1) and inner- (CPT2) mitochondrial membranes...
  5. Fanin M, Anichini A, Cassandrini D, Fiorillo C, Scapolan S, Minetti C, et al. Allelic and phenotypic heterogeneity in 49 Italian patients with the muscle form of CPT-II deficiency. Clin Genet. 2012;82:232-9 pubmed publisher
    ..Italian patients (33 unreported) with the muscle form of carnitine-palmitoyl-transferase-II (CPT-II) deficiency and CPT2 gene mutations...
  6. Anichini A, Fanin M, Vianey Saban C, Cassandrini D, Fiorillo C, Bruno C, et al. Genotype-phenotype correlations in a large series of patients with muscle type CPT II deficiency. Neurol Res. 2011;33:24-32 pubmed publisher
    The adult or 'muscular' form of carnitine-palmitoyl-transferase II (CPT II) deficiency presents with recurrent rhabdomyolytic episodes and myoglobinuria, usually triggered by prolonged exercise...
  7. Yahyaoui R, Espinosa M, Gómez C, Dayaldasani A, Rueda I, Roldan A, et al. Neonatal carnitine palmitoyltransferase II deficiency associated with Dandy-Walker syndrome and sudden death. Mol Genet Metab. 2011;104:414-6 pubmed publisher
    Neonatal onset of carnitine palmitoyltransferase II (CPT II) deficiency is an autosomal recessive, often lethal disorder of the mitochondrial beta-oxidation of long-chain fatty acids...
  8. Taroni F, Verderio E, Fiorucci S, Cavadini P, Finocchiaro G, Uziel G, et al. Molecular characterization of inherited carnitine palmitoyltransferase II deficiency. Proc Natl Acad Sci U S A. 1992;89:8429-33 pubmed
    Deficiency of carnitine palmitoyltransferase II (CPTase II; palmitoyl-CoA:L-carnitine O-palmitoyltransferase, EC 2.3.1.21) is a clinically heterogeneous autosomal recessive disorder of energy metabolism...
  9. Wataya K, Akanuma J, Cavadini P, Aoki Y, Kure S, Invernizzi F, et al. Two CPT2 mutations in three Japanese patients with carnitine palmitoyltransferase II deficiency: functional analysis and association with polymorphic haplotypes and two clinical phenotypes. Hum Mutat. 1998;11:377-86 pubmed
    b>Carnitine palmitoyltransferase II (CPT II) deficiency manifests as two different clinical phenotypes: a muscular form and a hepatic form. We have investigated three nonconsanguineous Japanese patients with CPT II deficiency...

More Information

Publications120 found, 100 shown here

  1. Olpin S, Afifi A, Clark S, Manning N, Bonham J, Dalton A, et al. Mutation and biochemical analysis in carnitine palmitoyltransferase type II (CPT II) deficiency. J Inherit Metab Dis. 2003;26:543-57 pubmed
    Carnitine palmitoyltransferase type II (CPT II) deficiency has three basic phenotypes, late-onset muscular (mild), infantile/juvenile hepatic (intermediate) and severe neonatal...
  2. Ørngreen M, Dunø M, Ejstrup R, Christensen E, Schwartz M, Sacchetti M, et al. Fuel utilization in subjects with carnitine palmitoyltransferase 2 gene mutations. Ann Neurol. 2005;57:60-6 pubmed
    Patients with the myopathic form of carnitine palmitoyltransferase II (CPT II) deficiency typically experience muscle pain, cramps, and myoglobinuria during prolonged exercise...
  3. Taggart R, Smail D, Apolito C, Vladutiu G. Novel mutations associated with carnitine palmitoyltransferase II deficiency. Hum Mutat. 1999;13:210-20 pubmed
    The most common form of carnitine palmitoyltransferase II (CPT II) deficiency occurs in adults and is characterized by muscle pain, stiffness, and myoglobinuria, triggered by exercise, fasting, or other metabolic stress...
  4. Isackson P, Bennett M, Vladutiu G. Identification of 16 new disease-causing mutations in the CPT2 gene resulting in carnitine palmitoyltransferase II deficiency. Mol Genet Metab. 2006;89:323-31 pubmed
    ..were characterized from 101 patients with defined clinical and biochemical evidence for the adult onset form of CPT II deficiency and in 2 patients detected as newborns with abnormal acylcarnitine profiles...
  5. Jeganathan J, Saraf R, Mahmood F, Pal A, Bhasin M, Huang T, et al. Mitochondrial Dysfunction in Atrial Tissue of Patients Developing Postoperative Atrial Fibrillation. Ann Thorac Surg. 2017;104:1547-1555 pubmed publisher
    ..002) and CPT1 (carnitine palmitoyltransferase I; p < 0.0005) in the POAF group after cardiopulmonary bypass...
  6. Koletzko L, Mahli A, Hellerbrand C. Development of an in vitro model to study hepatitis C virus effects on hepatocellular lipotoxicity and lipid metabolism. Pathol Res Pract. 2018;214:1700-1706 pubmed publisher
    ..Carnitine palmitoyltransferase I (CPT1) expression, indicative of mitochondrial beta-oxidation, was markedly stimulated by lipid exposure in HCV+
  7. Dong L, Han X, Tao X, Xu L, Xu Y, Fang L, et al. Protection by the Total Flavonoids from Rosa laevigata Michx Fruit against Lipopolysaccharide-Induced Liver Injury in Mice via Modulation of FXR Signaling. Foods. 2018;7: pubmed publisher
    ..acetyl-CoA carboxylase-1), FASN (fatty acid synthase), and SCD1 (stearoyl-coenzyme A desaturase 1), and improved CPT1 (carnitine palmitoyltransferase 1) level by activating FXR to regulate lipid metabolism...
  8. Diteepeng T, Khongwichit S, Paemanee A, Roytrakul S, Smith D. Proteomic analysis of monkey kidney LLC-MK2 cells infected with a Thai strain Zika virus. Arch Virol. 2019;164:725-737 pubmed publisher
    ..This study provides further new information on the pathogenesis of ZIKV. ..
  9. Edmondson A, Salant J, Ierardi Curto L, Ficicioglu C. Missed Newborn Screening Case of Carnitine Palmitoyltransferase-II Deficiency. JIMD Rep. 2017;33:93-97 pubmed publisher
    ..She was demonstrated to have homozygous mutation c.338C>T, p. S113L in CPT2, which is typically found in the adult-onset, myopathic form of the disease...
  10. Xiong J, Kawagishi H, Yan Y, Liu J, Wells Q, Edmunds L, et al. A Metabolic Basis for Endothelial-to-Mesenchymal Transition. Mol Cell. 2018;69:689-698.e7 pubmed publisher
    ..Disruption of FAO via conditional deletion of endothelial carnitine palmitoyltransferase II (Cpt2E-KO) augments the magnitude of embryonic EndoMT, resulting in thickening of cardiac valves...
  11. Chan J, Bittner S, Bittner A, Atwal S, Shen W, Inayathullah M, et al. Nordihydroguaiaretic Acid, a Lignan from Larrea tridentata (Creosote Bush), Protects Against American Lifestyle-Induced Obesity Syndrome Diet-Induced Metabolic Dysfunction in Mice. J Pharmacol Exp Ther. 2018;365:281-290 pubmed publisher
    ..master regulator of fatty acid oxidation) and mRNA levels of carnitine palmitoyltransferases Cpt1c and Cpt2, key genes involved in fatty acid oxidation, compared with the ALIOS diet...
  12. Kleme M, Sane A, Garofalo C, Seidman E, Brochiero E, Berthiaume Y, et al. CFTR Deletion Confers Mitochondrial Dysfunction and Disrupts Lipid Homeostasis in Intestinal Epithelial Cells. Nutrients. 2018;10: pubmed publisher
    ..Moreover, disturbed fatty acid &beta;-oxidation process was evidenced by the reduced expression of CPT1 and acyl-CoA dehydrogenase long-chain in CFTR-/- cells...
  13. Chen H, Tsai T, Tsai Y, Liao J, Yen C, Chen C. Kefir peptides prevent high-fructose corn syrup-induced non-alcoholic fatty liver disease in a murine model by modulation of inflammation and the JAK2 signaling pathway. Nutr Diabetes. 2016;6:e237 pubmed publisher
    ..stimulate STAT3 phosphorylation, which can translocate to the nucleus, and upregulated several genes, including the CPT1 (carnitine palmitoyltransferase-1) involved in fatty acid oxidation...
  14. Woo M, Song Y, Kang K, Noh J. Anti-Obesity Effects of Collagen Peptide Derived from Skate (Raja kenojei) Skin Through Regulation of Lipid Metabolism. Mar Drugs. 2018;16: pubmed publisher
    ..for β-oxidation (peroxisome proliferator-activated receptor alpha (PPAR-α) and carnitine palmitoyltransferase 1 (CPT1)) and synthesis of bile acid (cytochrome P450 family 7 subfamily A member 1 (CYP7A1)) (p < 0.05)...
  15. Shinohara S, Gu Y, Yang Y, Furuta Y, Tanaka M, Yue X, et al. Ethanol extracts of chickpeas alter the total lipid content and expression levels of genes related to fatty acid metabolism in mouse 3T3-L1 adipocytes. Int J Mol Med. 2016;38:574-84 pubmed publisher
    ..We also investigated whether lipolysis is affected by ECP. The amount of carnitine palmitoyltransferase 1 (CPT1), an enzyme important for the oxidation of fatty acids, was increased by ECP treatment...
  16. Chang J, Chung D, Lee Y, Wen B, Jao H, Wang C. Solanum nigrum Polyphenol Extracts Inhibit Hepatic Inflammation, Oxidative Stress, and Lipogenesis in High-Fat-Diet-Treated Mice. J Agric Food Chem. 2017;65:9255-9265 pubmed publisher
    ..the AMP-activated protein kinase (AMPK) pathway and upregulated the expression of carnitine palmitoyltransferase 1 (CPT1) and peroxisome proliferator-activated receptor alpha...
  17. Xu T, Seyfert H, Shen X. Epigenetic mechanisms contribute to decrease stearoyl-CoA desaturase 1 expression in the liver of dairy cows after prolonged feeding of high-concentrate diet. J Dairy Sci. 2018;101:2506-2518 pubmed publisher
    ..to lipid formation (DGAT1 and PLIN2) were downregulated during SARA, whereas those of catabolic genes (CPT1A, CPT2, and ACOX1) and some inflammatory genes were upregulated...
  18. Huang M, Wang F, Zhou X, Yang H, Wang Y. Hypoglycemic and hypolipidemic properties of polysaccharides from Enterobacter cloacae Z0206 in KKAy mice. Carbohydr Polym. 2015;117:91-8 pubmed publisher
    ..GK), HSL (Hormone Sensitive Lipase), adipose triglyceride lipase (ATGL), carnitine palmitoyl transferase 1-α (CPT1-α), glucose transporter 2 (Glut2), adenosine monophosphate activated protein kinase (AMPK) and silent ..
  19. 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...
  20. Jahansouz C, Xu H, Hertzel A, Kizy S, Steen K, Foncea R, et al. Partitioning of adipose lipid metabolism by altered expression and function of PPAR isoforms after bariatric surgery. Int J Obes (Lond). 2018;42:139-146 pubmed publisher
    ..FABP) 4 and stearoyl-CoA desaturase-1 (SCD1) with increased expression of carnitine palmitoyl transferase 1 (CPT1) and uncoupling protein 2 (UCP2)...
  21. Seo Y, Lee K, Song J, Chei S, Lee B. Ishige okamurae Extract Suppresses Obesity and Hepatic Steatosis in High Fat Diet-Induced Obese Mice. Nutrients. 2018;10: pubmed publisher
    ..acid concentration, probably through the upregulation of β-oxidation genes, suggested by increases in AMPKα and CPT1 expression in WAT and liver...
  22. Wang Y, Li J, Han M, Wang W, Li Y. Prevention and treatment effect of total flavonoids in Stellera chamaejasme L. on nonalcoholic fatty liver in rats. Lipids Health Dis. 2015;14:85 pubmed publisher
    ..05). The hepatic mRNA expression of Cholesterol 7α-hydroxylase1 (CYP7A1), Carnitine palmitoyltransferase-1 (CPT1) and peroxisome proliferator-activated receptor (PPAR) -α were significantly higher in the high-dose group ..
  23. Mukherjee R, Yun J. Pharmacological inhibition of galectin-1 by lactulose alleviates weight gain in diet-induced obese rats. Life Sci. 2016;148:112-7 pubmed publisher
    ..as well as stimulated expression of proteins involved in energy expenditure and lipolysis (ATP5B, COXIV, HSL, and CPT1)...
  24. Martins A, Crisma A, Masi L, Amaral C, Marzuca Nassr G, Bomfim L, et al. Attenuation of obesity and insulin resistance by fish oil supplementation is associated with improved skeletal muscle mitochondrial function in mice fed a high-fat diet. J Nutr Biochem. 2018;55:76-88 pubmed publisher
    ..and up-regulated mRNA expression of Gpat1, Pepck, catalase and mitochondrial proteins (Pgc1α, Pparα, Cpt1 and Ucp3)...
  25. Amrutkar M, Cansby E, Chursa U, Nuñez Durán E, Chanclón B, Ståhlman M, et al. Genetic Disruption of Protein Kinase STK25 Ameliorates Metabolic Defects in a Diet-Induced Type 2 Diabetes Model. Diabetes. 2015;64:2791-804 pubmed publisher
    ..in Stk25(-/-) skeletal muscle was reduced, and expression of enzymes controlling the muscle oxidative capacity (Cpt1, Acox1, Cs, Cycs, Ucp3) and glucose metabolism (Glut1, Glut4, Hk2) was increased...
  26. Jung T, Lee S, Kim H, Bang J, Abd El Aty A, Hacimuftuoglu A, et al. METRNL attenuates lipid-induced inflammation and insulin resistance via AMPK or PPARδ-dependent pathways in skeletal muscle of mice. Exp Mol Med. 2018;50:122 pubmed publisher
    ..augmented the mRNA expression of fatty acid oxidation-associated genes, such as carnitine palmitoyltransferase 1 (CPT1), acyl-CoA oxidase (ACO), and fatty acid binding protein 3 (FABP3)...
  27. Bernardo A, Cortez E, Neves F, Vieira A, Soares V, Rodrigues Cunha A, et al. Overnutrition during lactation leads to impairment in insulin signaling, up-regulation of GLUT1 and increased mitochondrial carbohydrate oxidation in heart of weaned mice. J Nutr Biochem. 2016;29:124-32 pubmed publisher
    ..Moreover, OG hearts had lower CPT1, PPARα and increased UCP2 mRNA expression, associated with increased oxidative stress (4-HNE content), BAX/BCL2 ..
  28. Cesar A, Regitano L, Poleti M, Andrade S, Tizioto P, Oliveira P, et al. Differences in the skeletal muscle transcriptome profile associated with extreme values of fatty acids content. BMC Genomics. 2016;17:961 pubmed
    ..from OA DEGs identified important genes, canonical pathways and upstream regulators such as SCD, PLIN5, UCP3, CPT1, CPT1B, oxidative phosphorylation mitochondrial dysfunction, PPARGC1A, and FOXO1...
  29. Amato A, Caldara G, Nuzzo D, Baldassano S, Picone P, Rizzo M, et al. NAFLD and Atherosclerosis Are Prevented by a Natural Dietary Supplement Containing Curcumin, Silymarin, Guggul, Chlorogenic Acid and Inulin in Mice Fed a High-Fat Diet. Nutrients. 2017;9: pubmed publisher
    ..PCR array showed upregulation of some genes involved in lipid metabolism and anti-inflammatory activity (Cpt2, Ifng) and downregulation of some genes involved in pro-inflammatory response and in free fatty acid up-take (Fabp5,..
  30. Guo H, Zeng W, Feng L, Yu X, Li P, Zhang K, et al. Integrated transcriptomic analysis of distance-related field cancerization in rectal cancer patients. Oncotarget. 2017;8:61107-61117 pubmed publisher
    ..in the CRC dataset from The Cancer Genome Atlas (TCGA) revealed that higher expression of these 7 genes, especially CPT2, ACAA2 and ACADM, was associated with better prognosis (p = 0.034, p = 0.00058, p = 0...
  31. Xue M, Zhang L, Yang M, Zhang W, Li X, Ou Z, et al. Berberine-loaded solid lipid nanoparticles are concentrated in the liver and ameliorate hepatosteatosis in db/db mice. Int J Nanomedicine. 2015;10:5049-57 pubmed publisher
    ..element-binding protein 1c (SREBP1c) were downregulated, while lipolytic gene carnitine palmitoyltransferase-1 (CPT1) was upregulated in BBR-SLN-treated livers...
  32. Wu C, Kato T, Ji R, Zizola C, Brunjes D, Deng Y, et al. Supplementation of l-Alanyl-l-Glutamine and Fish Oil Improves Body Composition and Quality of Life in Patients With Chronic Heart Failure. Circ Heart Fail. 2015;8:1077-87 pubmed publisher
    ..in muscle fiber composition, fiber cross-sectional area, gene expression of metabolic marker genes (PGC1α, CPT1, PDK4, and GLUT4), and skeletal muscle oxidative capacity...
  33. Ayeleso T, Ramachela K, Mukwevho E. Aqueous-Methanol Extracts of Orange-Fleshed Sweet Potato (Ipomoeabatatas) Ameliorate Oxidative Stress and Modulate Type 2 Diabetes Associated Genes in Insulin Resistant C2C12 Cells. Molecules. 2018;23: pubmed publisher
    ..respiratory factor 1 (nrf1), Myocyte enhanced factor 2A (mef2a), Carnitine palmitoyltransferase 1 (cpt1) and Acetyl-CoA carboxylase 2 (acc2). The results showed a significant (p < 0...
  34. 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
    ..transport and metabolism of FA such as: fatty acid transporter CD36 (FAT/CD36), carnitine-palmitoyltransferase 1 (CPT1), long- and medium-chain 3-hydroxyacyl-CoA dehydrogenases (LCAD, MCAD), and of genes involved in mitochondrial ..
  35. Bruce C, Brolin C, Turner N, Cleasby M, van der Leij F, Cooney G, et al. Overexpression of carnitine palmitoyltransferase I in skeletal muscle in vivo increases fatty acid oxidation and reduces triacylglycerol esterification. Am J Physiol Endocrinol Metab. 2007;292:E1231-7 pubmed
    ..05). These studies demonstrate that acute overexpression of CPT I in muscle leads to a repartitioning of FAs away from esterification and toward oxidation and highlight the importance of CPT I in regulating muscle FA metabolism. ..
  36. Gonzalez Hurtado E, Lee J, Choi J, Selen Alpergin E, Collins S, Horton M, et al. Loss of macrophage fatty acid oxidation does not potentiate systemic metabolic dysfunction. Am J Physiol Endocrinol Metab. 2017;312:E381-E393 pubmed publisher
    ..dysfunction in high-fat diet-induced obesity, we generated mice with a myeloid-specific knockout of carnitine palmitoyltransferase II (CPT2 MÏ•-KO), an obligate step in mitochondrial long-chain fatty acid oxidation...
  37. Retterstøl K, Narverud I, Selmer R, Berge K, Osnes I, Ulven S, et al. Severe hypertriglyceridemia in Norway: prevalence, clinical and genetic characteristics. Lipids Health Dis. 2017;16:115 pubmed publisher
    ..The mRNA expression levels of carnitine palmitoyltransferase (CPT)-1A, CPT2, and hormone-sensitive lipase, were significantly higher in patients compared to controls, whereas those of ATP-..
  38. Bonnefont J, Taroni F, Cavadini P, Cepanec C, Brivet M, Saudubray J, et al. Molecular analysis of carnitine palmitoyltransferase II deficiency with hepatocardiomuscular expression. Am J Hum Genet. 1996;58:971-8 pubmed
    ..The adult form of the disease is commonly ascribed to the Ser-113-Leu substitution in CPT II. Only few data are available regarding the molecular basis of the infantile form of the disease...
  39. Guzman M, Velasco G, Castro J. Effects of extracellular ATP on hepatic fatty acid metabolism. Am J Physiol. 1996;270:G701-7 pubmed
  40. Chai L, Chen A, Luo P, Zhao H, Wang H. Histopathological changes and lipid metabolism in the liver of Bufo gargarizans tadpoles exposed to Triclosan. Chemosphere. 2017;182:255-266 pubmed publisher
    ..Also, abundances of transcripts of acetyl-CoA carboxylase (ACC), carnitine palmitoyltransferase 2 (CPT2), peroxisome proliferator-activated receptor alpha (PPARa), fatty acid elongase 1 (FAE), sterol carrier protein 2 (..
  41. Stark R, Reichenbach A, Andrews Z. Hypothalamic carnitine metabolism integrates nutrient and hormonal feedback to regulate energy homeostasis. Mol Cell Endocrinol. 2015;418 Pt 1:9-16 pubmed publisher
    ..terms of nutrient regulation, carnitine metabolism regulates hypothalamic fatty acid sensing through the actions of CPT1 and has an underappreciated role in glucose sensing since carnitine metabolism also buffers mitochondrial matrix ..
  42. Casals N, Zammit V, Herrero L, Fadó R, Rodríguez Rodríguez R, Serra D. Carnitine palmitoyltransferase 1C: From cognition to cancer. Prog Lipid Res. 2016;61:134-48 pubmed publisher
    Carnitine palmitoyltransferase 1 (CPT1) C was the last member of the CPT1 family of genes to be discovered...
  43. Parray H, Lone J, Park J, Choi J, Yun J. Magnolol promotes thermogenesis and attenuates oxidative stress in 3T3-L1 adipocytes. Nutrition. 2018;50:82-90 pubmed publisher
    ..In addition, magnolol up-regulated key fatty acid oxidation and lipolytic markers (CPT1, ACSL1, SIRT1, and PLIN) and down-regulated lipogenic markers (FAS and SREBP1)...
  44. Kahn B, Alquier T, Carling D, Hardie D. AMP-activated protein kinase: ancient energy gauge provides clues to modern understanding of metabolism. Cell Metab. 2005;1:15-25 pubmed
    ..Through signaling, metabolic, and gene expression effects, AMPK enhances insulin sensitivity and fosters a metabolic milieu that may reduce the risk for obesity and type 2 diabetes. ..
  45. Hogan K, Vladutiu G. Malignant hyperthermia-like syndrome and carnitine palmitoyltransferase II deficiency with heterozygous R503C mutation. Anesth Analg. 2009;109:1070-2 pubmed publisher
    ..The patient was found to be heterozygous for a mutation in the carnitine palmitoyltransferase II gene (CPT2) encoding an arginine to cysteine substitution at amino acid 503 (R503C) with reduced ..
  46. Piemontese L, Cerchia C, Laghezza A, Ziccardi P, Sblano S, Tortorella P, et al. New diphenylmethane derivatives as peroxisome proliferator-activated receptor alpha/gamma dual agonists endowed with anti-proliferative effects and mitochondrial activity. Eur J Med Chem. 2017;127:379-397 pubmed publisher
    ..shuttle system through upregulation of carnitine/acylcarnitine carrier (CAC) and carnitine-palmitoyl-transferase 1 (CPT1) genes...
  47. Mak C, Lam C, Fong N, Siu W, Lee H, Siu T, et al. Fatal viral infection-associated encephalopathy in two Chinese boys: a genetically determined risk factor of thermolabile carnitine palmitoyltransferase II variants. J Hum Genet. 2011;56:617-21 pubmed publisher
    ..Thermolabile carnitine palmitoyltransferase II enzyme (CPT-II) predisposes IAE, so far only described in Japanese...
  48. Aguiar P, Magalhães S, Fonseca I, da Costa Santos V, de Matos M, Peixoto M, et al. Post-exercise cold water immersion does not alter high intensity interval training-induced exercise performance and Hsp72 responses, but enhances mitochondrial markers. Cell Stress Chaperones. 2016;21:793-804 pubmed publisher
    ..calmodulin-dependent protein kinase 2 (CaMK2) and enzymes citrate synthase (CS), carnitine palmitoyltransferase I (CPT1), and pyruvate dehydrogenase kinase (PDK4) were assessed by real-time PCR...
  49. Qiao Y, Xu L, Tao X, Yin L, Qi Y, Xu Y, et al. Protective effects of dioscin against fructose-induced renal damage via adjusting Sirt3-mediated oxidative stress, fibrosis, lipid metabolism and inflammation. Toxicol Lett. 2018;284:37-45 pubmed publisher
    ..of Nrf2, GST, Keap1, regulated lipid metabolism by controlling the expression levels of SREBP-1c, SCD-1, FASn, ACC, CPT1, and adjusted TGF-β1/Smad signal to inhibit renal fibrosis...
  50. Iglesias Gato D, Wikström P, Tyanova S, Lavallee C, Thysell E, Carlsson J, et al. The Proteome of Primary Prostate Cancer. Eur Urol. 2016;69:942-52 pubmed publisher
    ..analysis indicated that some of the proteins overexpressed in tumors, such as carnitine palmitoyltransferase 2 (CPT2, fatty acid transporter), coatomer protein complex, subunit alpha (COPA, vesicle secretion), and mitogen- and ..
  51. Xiao P, Ji H, Ye Y, Zhang B, Chen Y, Tian J, et al. Dietary silymarin supplementation promotes growth performance and improves lipid metabolism and health status in grass carp (Ctenopharyngodon idellus) fed diets with elevated lipid levels. Fish Physiol Biochem. 2017;43:245-263 pubmed publisher
    ..Meanwhile, significant interactions were shown for hepatic gene expression of HSL and CPT1 by two factors, and SM100 group had higher hepatic gene expression of HSL and CPT1 in fish fed with the HL diets...
  52. Singh S, Kang L, Nawrocki A, Zhou D, Wu M, Previs S, et al. The Fatty Acid Synthase Inhibitor Platensimycin Improves Insulin Resistance without Inducing Liver Steatosis in Mice and Monkeys. PLoS ONE. 2016;11:e0164133 pubmed publisher
    ..we performed ex vivo liver perfusion study to compare FAS inhibitor and carnitine palmitoyltransferase 1 (CPT1) inhibitor...
  53. Rameshreddy P, Uddandrao V, BrahmaNaidu P, Vadivukkarasi S, RavindarNaik R, Suresh P, et al. Obesity-alleviating potential of asiatic acid and its effects on ACC1, UCP2, and CPT1 mRNA expression in high fat diet-induced obese Sprague-Dawley rats. Mol Cell Biochem. 2018;442:143-154 pubmed publisher
    ..levels; and acetyl CoA carboxylase(ACC), uncoupling protein-2 (UCP2), and carnitine palmitoyltransferase-1 (CPT1) mRNA expression were observed in the experimental rats...
  54. Roe C, Yang B, Brunengraber H, Roe D, Wallace M, Garritson B. Carnitine palmitoyltransferase II deficiency: successful anaplerotic diet therapy. Neurology. 2008;71:260-4 pubmed publisher
    b>Carnitine palmitoyltransferase II (CPT II) deficiency is an important cause of recurrent rhabdomyolysis in children and adults...
  55. Grasselli E, Voci A, Demori I, Vecchione G, Compalati A, Gallo G, et al. Triglyceride Mobilization from Lipid Droplets Sustains the Anti-Steatotic Action of Iodothyronines in Cultured Rat Hepatocytes. Front Physiol. 2015;6:418 pubmed publisher
    ..stimulated the lipid mobilization from LDs then followed by the up-regulation of carnitine-palmitoyl-transferase (CPT1) expression and the stimulation of cytochrome-c oxidase (COX) activity that seems to indicate a stimulation of ..
  56. Yuan X, Liang X, Liu L, Fang J, Li J, Li A, et al. Fat deposition pattern and mechanism in response to dietary lipid levels in grass carp, Ctenopharyngodon idellus. Fish Physiol Biochem. 2016;42:1557-1569 pubmed
    ..In the present study, grass carp firstly increased PPARγ and CPT1 expressions in adipose tissue to elevate adipocyte differentiation and lipolysis to adapt to high lipid intake ..
  57. Sumantran V, Mishra P, Sudhakar N. Microarray analysis of differentially expressed genes regulating lipid metabolism during melanoma progression. Indian J Biochem Biophys. 2015;52:125-31 pubmed
    ..Melanoma also upregulated genes which prevented lipotoxicity (CPT2 and ACOT7) and regulated lipid second messengers, such as phosphatidic acid (AGPAT-4, PLD3) and inositol ..
  58. Lee J, Walsh M, Hoehn K, James D, Wherry E, Choi Y. Acetyl CoA Carboxylase 2 Is Dispensable for CD8+ T Cell Responses. PLoS ONE. 2015;10:e0137776 pubmed publisher
    ..CoA carboxylase 2 (ACC2) regulates fatty acid oxidation (FAO) by inhibiting carnitine palmitoyltransferase 1 (CPT1), a rate-limiting enzyme of FAO in mitochondria...
  59. Vahmani P, Meadus W, Rolland D, Duff P, Dugan M. Trans10,cis15 18:2 Isolated from Beef Fat Does Not Have the Same Anti-Adipogenic Properties as Trans10,cis12-18:2 in 3T3-L1 Adipocytes. Lipids. 2016;51:1231-1239 pubmed
    ..05) the expression of the rate-liming enzyme involved in fatty acid β-oxidation (CPT1)...
  60. Velasco C, Bonacic K, Soengas J, Morais S. Orally administered fatty acids enhance anorectic potential but do not activate central fatty acid sensing in Senegalese sole post-larvae. J Exp Biol. 2017;220:677-685 pubmed publisher
    ..x, srebp1c) or were affected in a way that was inconsistent with FA-sensing mechanisms (fat/cd36-pg4l, fas, cpt1.1, cpt1.2, cpt1.3, sur, ppar? and lxr?).
  61. Afifi A, Olpin S, Dalton A, Bishop N, Grabowski P. Failure to repair the c.338C>T mutation in carnitine palmitoyl transferase 2 deficient skin fibroblasts using chimeraplasty. Mol Genet Metab. 2008;93:347-9 pubmed
    ..We failed to repair the gene under a variety of conditions and believe this approach is of little value until cellular DNA repair mechanisms are much better understood. ..
  62. Lee J, Choi J, Aja S, Scafidi S, Wolfgang M. Loss of Adipose Fatty Acid Oxidation Does Not Potentiate Obesity at Thermoneutrality. Cell Rep. 2016;14:1308-1316 pubmed publisher
    ..Here, mice with an adipose-specific defect in fatty acid oxidation (Cpt2(A-/-)) were subjected to varying temperatures to determine the role of adipose bioenergetics in environmental ..
  63. Zeng L, Tang W, Yin J, Feng L, Li Y, Yao X, et al. Alisol A 24-Acetate Prevents Hepatic Steatosis and Metabolic Disorders in HepG2 Cells. Cell Physiol Biochem. 2016;40:453-464 pubmed
    ..protein 1c (SREBP-1c), acetyl-CoA carboxylase (ACC), fatty acid synthase (FAS), carnitine palmitoyltransferase 1 (CPT1) and acyl coenzyme A oxidase 1 (ACOX1) were detected...
  64. Liu C, Ma J, Sun J, Cheng C, Feng Z, Jiang H, et al. Flavonoid-Rich Extract of Paulownia fortunei Flowers Attenuates Diet-Induced Hyperlipidemia, Hepatic Steatosis and Insulin Resistance in Obesity Mice by AMPK Pathway. Nutrients. 2017;9: pubmed publisher
    ..of EPF were probably associated with the decrease in HMGCR, SREBP-1c and FAS expressions and the increase in CPT1 and phosphor-IRS-1 expressions...
  65. Violante S, IJlst L, van Lenthe H, de Almeida I, Wanders R, Ventura F. Carnitine palmitoyltransferase 2: New insights on the substrate specificity and implications for acylcarnitine profiling. Biochim Biophys Acta. 2010;1802:728-32 pubmed publisher
    ..A possibility exists that carnitine palmitoyltransferase 2 (CPT2), member of the carnitine shuttle, is involved in the intramitochondrial synthesis of acylcarnitines from ..
  66. Montermini L, Wang H, Verderio E, Taroni F, DiDonato S, Finocchiaro G. Identification of 5' regulatory regions of the human carnitine palmitoyltransferase II gene. Biochim Biophys Acta. 1994;1219:237-40 pubmed
    ..two partially overlapping genomic clones that contain part of the 5' regulatory region of the human carnitine palmitoyltransferase II gene. The 1...
  67. Wieser T, Deschauer M, Olek K, Hermann T, Zierz S. Carnitine palmitoyltransferase II deficiency: molecular and biochemical analysis of 32 patients. Neurology. 2003;60:1351-3 pubmed
    The authors investigated 32 patients with the muscle form of CPT II deficiency...
  68. 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
    ..We examined mutations in the ryanodine receptor 1 (RYR 1), carnitine palmitoyltransferase II (CPT II), very long-chain acyl-CoA dehydrogenase (VLCAD), and cytochrome P450 (CYP) 2D6 genes...
  69. 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
    ..mediate carnitine-dependent entry of long-chain acyl-CoAs into the mitochondrial matrix for ?-oxidation - CPT1a and CPT2 located on the outer and inner mitochondrial membranes, respectively...
  70. Isackson P, Bennett M, Lichter Konecki U, Willis M, Nyhan W, Sutton V, et al. CPT2 gene mutations resulting in lethal neonatal or severe infantile carnitine palmitoyltransferase II deficiency. Mol Genet Metab. 2008;94:422-7 pubmed publisher
    Three distinct clinical manifestations of carnitine palmitoyltransferase II (CPT II) deficiency have been defined including a mild adult onset myopathy, a severe infantile disorder and a lethal neonatal form...
  71. Li Y, Jia Z, Liang X, Matulić D, Hussein M, Gao J. Growth performance, fatty-acid composition, lipid deposition and hepatic-lipid metabolism-related gene expression in juvenile pond loach Misgurnus anguillicaudatus fed diets with different dietary soybean oil levels. J Fish Biol. 2017;: pubmed publisher
    ..as ?6fad, scd, ppar?, fas and srebp-1) and down-regulated the mRNA levels of the lipolytic genes (such as ppar?, cpt1, atgl and hsl) in the liver...
  72. Fu C, Liu L, Li F. Acetate alters the process of lipid metabolism in rabbits. Animal. 2017;:1-8 pubmed publisher
    ..differentiation-dependent factor 1 (ADD1), adipocyte protein 2 (aP2), carnitine palmitoyltransferase 1 (CPT1), CPT2, hormone-sensitive lipase (HSL), G protein-coupled receptor (GPR41), GPR43, adenosine monophosphate-activated ..
  73. Finocchiaro G, Colombo I, DiDonato S. Purification, characterization and partial amino acid sequences of carnitine palmitoyl-transferase from human liver. FEBS Lett. 1990;274:163-6 pubmed
    ..Both antibodies and peptide sequences are important tools for the investigation of the molecular basis of CPT deficiency in man. ..
  74. Deschauer M, Wieser T, Schroder R, Zierz S. A novel nonsense mutation (515del4) in muscle carnitine palmitoyltransferase II deficiency. Mol Genet Metab. 2002;75:181-5 pubmed
    ..3.1.21) II gene in a patient with biochemical evidence of CPT II deficiency. The 39-year-old man suffered from the muscle form of CPT II deficiency...
  75. Hu J, Chen Z, Liu X, Chen Z, Xin D, Liu P. Association of CPT II gene with risk of acute encephalitis in Chinese children. Pediatr Infect Dis J. 2014;33:1077-82 pubmed publisher
    Mutations of the CPT II gene cause CPT II deficiency, an inborn metabolic error affecting mitochondrial fatty acid β-oxidation. Associations and mechanisms of CPT II gene with acute encephalitis need to be elucidated...
  76. Yao M, Cai M, Yao D, Xu X, Yang R, Li Y, et al. Abbreviated half-lives and impaired fuel utilization in carnitine palmitoyltransferase II variant fibroblasts. PLoS ONE. 2015;10:e0119936 pubmed publisher
    b>Carnitine palmitoyltransferase II (CPT II) deficiency is one of the most common causes of fatty acid oxidation metabolism disorders...
  77. Lee J, Choi J, Scafidi S, Wolfgang M. Hepatic Fatty Acid Oxidation Restrains Systemic Catabolism during Starvation. Cell Rep. 2016;16:201-212 pubmed publisher
    ..oxidation on this process, we generated mice with a liver-specific knockout of carnitine palmitoyltransferase 2 (Cpt2(L-/-)), an obligate step in mitochondrial long-chain fatty acid ?-oxidation...
  78. Lee J, Choi J, Selen Alpergin E, Zhao L, Hartung T, Scafidi S, et al. Loss of Hepatic Mitochondrial Long-Chain Fatty Acid Oxidation Confers Resistance to Diet-Induced Obesity and Glucose Intolerance. Cell Rep. 2017;20:655-667 pubmed publisher
    ..diet (HFD), we generated mice with a liver-specific deficiency of mitochondrial long-chain fatty acid ?-oxidation (Cpt2L-/- mice)...
  79. Zhao Q, Yang R, Wang J, Hu D, Li F. PPARα activation protects against cholestatic liver injury. Sci Rep. 2017;7:9967 pubmed publisher
    ..and triglyceride, and the reduced expression of four fatty acid β-oxidation (β-FAO) relevant genes (Cpt1b, Cpt2, Mcad and Hadha), indicating the disruption of β-FAO...
  80. Mikoluk C, Nagengast A, DiAngelo J. The splicing factor transformer2 (tra2) functions in the Drosophila fat body to regulate lipid storage. Biochem Biophys Res Commun. 2018;495:1528-1533 pubmed publisher
    ..Interestingly, the splicing of CPT1, an enzyme involved in the breakdown of lipids, was altered in flies with decreased tra2...
  81. Kaneoka H, Uesugi N, Moriguchi A, Hirose S, Takayanagi M, Yamaguchi S, et al. Carnitine palmitoyltransferase II deficiency due to a novel gene variant in a patient with rhabdomyolysis and ARF. Am J Kidney Dis. 2005;45:596-602 pubmed
    Adult patients deficient in carnitine palmitoyltransferase II (CPT II) cannot generate sufficient amounts of energy, which results in rhabdomyolysis and acute renal failure (ARF)...
  82. Li B, Song K, Meng J, Li L, Zhang G. Integrated application of transcriptomics and metabolomics provides insights into glycogen content regulation in the Pacific oyster Crassostrea gigas. BMC Genomics. 2017;18:713 pubmed publisher
    ..Based on these results, we found that a high expression of carnitine O-palmitoyltransferase 2 (CPT2), indicative of increased fatty acid degradation, is associated with a lower glycogen content...
  83. Lone J, Parray H, Yun J. Nobiletin induces brown adipocyte-like phenotype and ameliorates stress in 3T3-L1 adipocytes. Biochimie. 2018;146:97-104 pubmed publisher
    ..In addition, nobiletin altered the expression of several lipid metabolism-related proteins such as ACOX1, CPT1, FAS, p-PLIN, SREBP and SIRT1...
  84. Jin C, Luo T, Zhu Z, Pan Z, Yang J, Wang W, et al. Imazalil exposure induces gut microbiota dysbiosis and hepatic metabolism disorder in zebrafish. Comp Biochem Physiol C Toxicol Pharmacol. 2017;202:85-93 pubmed publisher
    ..In addition, the transcription of some genes related to glycolysis and lipid metabolism, including Aco, Cpt1, Acc1, Srebp1a and Fas, was decreased significantly in the liver of zebrafish when exposed to 100 and 1000?g/L IMZ ..
  85. Saraiva H, Batista R, Alfradique V, Pinto P, Ribeiro L, Oliveira C, et al. l-carnitine supplementation during vitrification or warming of in vivo-produced ovine embryos does not affect embryonic survival rates, but alters CrAT and PRDX1 expression. Theriogenology. 2018;105:150-157 pubmed publisher
    ..cells, apoptotic index evaluation, and gene expression analysis of carnitine palmitoyltransferase I and 2 (CPT1 and CPT2), carnitine O-acetyltransferase (CrAT), and peroxiredoxin-1 (PRDX1)...
  86. Schenk S, Horowitz J. Coimmunoprecipitation of FAT/CD36 and CPT I in skeletal muscle increases proportionally with fat oxidation after endurance exercise training. Am J Physiol Endocrinol Metab. 2006;291:E254-60 pubmed
    ..857, P < 0.003). In conclusion, the findings from this study indicate that exercise training alters the localization of FAT/CD36 and increases its association with CPT I, which may help augment fat oxidation. ..
  87. Du S, Zhang F, Yu Y, Chen C, Wang H, Li D. Sudden infant death from neonate carnitine palmitoyl transferase II deficiency. Forensic Sci Int. 2017;278:e41-e44 pubmed publisher
    ..Tandem mass spectrometry analysis revealed that the deceased patient had a carnitine palmitoyl transferase II (CPT2) deficiency or a carnitine-acylcarnitine translocase deficiency...
  88. Guo X, Chen J, Sun F, Wang Y, Pan Q, Fan J. circRNA_0046367 Prevents Hepatoxicity of Lipid Peroxidation: An Inhibitory Role against Hepatic Steatosis. Oxid Med Cell Longev. 2017;2017:3960197 pubmed publisher
    ..transcriptional activation of genes associated with lipid metabolism, including carnitine palmitoyltransferase 2 (CPT2) and acyl-CoA binding domain containing 3 (ACBD3), and then resulted in the steatosis resolution...
  89. Finocchiaro G, Taroni F, Rocchi M, Martin A, Colombo I, Tarelli G, et al. cDNA cloning, sequence analysis, and chromosomal localization of the gene for human carnitine palmitoyltransferase. Proc Natl Acad Sci U S A. 1991;88:661-5 pubmed
    We have cloned and sequenced a cDNA encoding human liver carnitine palmitoyltransferase (CPTase; palmitoyl-CoA:L-carnitine O-palmitoyltransferase, EC 2.3.1...
  90. Corti S, Bordoni A, Ronchi D, Musumeci O, Aguennouz M, Toscano A, et al. Clinical features and new molecular findings in Carnitine Palmitoyltransferase II (CPT II) deficiency. J Neurol Sci. 2008;266:97-103 pubmed
    b>Carnitine palmitoyltransferase II (CPT II) deficiency is the most common inherited disorder of lipid metabolism characterized in its adult form by attacks of myalgia and myoglobinuria...
  91. Lehmann D, Motlagh L, Robaa D, Zierz S. Muscle Carnitine Palmitoyltransferase II Deficiency: A Review of Enzymatic Controversy and Clinical Features. Int J Mol Sci. 2017;18: pubmed publisher
    ..CPT activity in muscles of patients with CPT II deficiency ranged from not detectable to reduced to normal...
  92. Laguna J, Cardoso M, Lima J, Reis R, Carvalho A, Saturnino H, et al. Expression of hepatic genes related to energy metabolism during the transition period of Holstein and F1 Holstein-Gir cows. J Dairy Sci. 2017;100:9861-9870 pubmed publisher
    ..MUT), ?-hydroxybutyrate dehydrogenase-2 (BDH2), acetyl-CoA carboxylase (ACC), carnitine palmitoyltransferase-2 (CPT2), 3-hydroxy-3-methylglutaryl-CoA reductase (HMGCR), glucose transporter-2 (SLC2A2), and the transcription factor ..