Genomes and Genes
mitochondrial 3 oxoacyl CoA thiolase
Gene Symbol: mitochondrial 3 oxoacyl CoA thiolase
Description: acetyl-CoA acyltransferase 2
Alias: DSAEC, 3-ketoacyl-CoA thiolase, mitochondrial, acetyl-Coenzyme A acyltransferase 2, beta ketothiolase, mitochondrial 3-oxoacyl-CoA thiolase, mitochondrial 3-oxoacyl-Coenzyme A thiolase
Products: mitochondrial 3 oxoacyl CoA thiolase
- Sodhi S, Ghosh M, Song K, Sharma N, Kim J, Kim N, et al. An approach to identify SNPs in the gene encoding acetyl-CoA acetyltransferase-2 (ACAT-2) and their proposed role in metabolic processes in pig. PLoS ONE. 2014;9:e102432 pubmed publisher..Further associations of SNPs in ACAT2 with production traits might guide efforts to improve growth performance in Jeju native pigs. ..
- Law C, Lam C, Ching C, Yau K, Ho T, Lai C, et al. NMR-based urinalysis for beta-ketothiolase deficiency. Clin Chim Acta. 2015;438:222-5 pubmed publisher..We envisage that NMR analysis will become more available in clinical laboratories and will play an important role in acute pediatric care. ..
- Taye M, Yoon J, Dessie T, Cho S, Oh S, Lee H, et al. Deciphering signature of selection affecting beef quality traits in Angus cattle. Genes Genomics. 2018;40:63-75 pubmed publisher..The findings in this study, after validation using additional or independent dataset, will provide useful information for the study of Angus cattle in particular and beef cattle in general. ..
- Martin G, Atshaves B, McIntosh A, Mackie J, Kier A, Schroeder F. Liver fatty acid-binding protein gene-ablated female mice exhibit increased age-dependent obesity. J Nutr. 2008;138:1859-65 pubmed..The data support a working model in which obesity development in these mice results from shifts toward reduced energy expenditure and/or more efficient energy uptake in the gut. ..
- Chen M, Chang J, Lin Y, Pan K, Ho W, Liu W, et al. Deciphering the gene expression profile of peroxisome proliferator-activated receptor signaling pathway in the left atria of patients with mitral regurgitation. J Transl Med. 2016;14:157 pubmed publisher..Differentially expressed genes of the PPAR pathway have been identified in the left atria of MR patients compared with patients with aortic valve disease and normal controls. ..
- Wen P, Chen Z, Wang G, Su Z, Zhang X, Tang G, et al. [Analysis of clinical phenotype and ACAT1 gene mutation in a family affected with beta-ketothiolase deficiency]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2016;33:286-91 pubmed publisher..Urine organic acid and blood acylcarnitine analyses play an important role in the diagnosis of the disease. The compound heterozygous of ACAT1 gene mutations probably underlie the BKTD in our patient. ..
- Tomilov A, Tomilova N, Shan Y, Hagopian K, Bettaieb A, Kim K, et al. p46Shc Inhibits Thiolase and Lipid Oxidation in Mitochondria. J Biol Chem. 2016;291:12575-85 pubmed publisher..The thiolase-p46Shc connection shown here in vitro and in organello may be an important underlying mechanism explaining the metabolic phenotype of Shc-depleted mice in vivo. ..
- Pashos E, Park Y, Wang X, Raghavan A, Yang W, Abbey D, et al. Large, Diverse Population Cohorts of hiPSCs and Derived Hepatocyte-like Cells Reveal Functional Genetic Variation at Blood Lipid-Associated Loci. Cell Stem Cell. 2017;20:558-570.e10 pubmed publisher..These findings endorse an iPSC-based experimental framework to discover functional variants and genes contributing to complex human traits. ..
- Ribeiro A, de Lacerda R, Correia D, Brunialti Godard A, de Miranda D, Campos V, et al. Possible involvement of ACSS2 gene in alcoholism. J Neural Transm (Vienna). 2017;124:1151-1158 pubmed publisher..03), although sample size was very small. The gene ACSS2 is associated with alcoholism, suggesting that biochemical pathways where it participates may have a role in the biological mechanisms susceptible to the ethanol effects. ..
- Zhao X, Zhang F, Wang Y. Proteomic analysis reveals Xuesaitong injection attenuates myocardial ischemia/reperfusion injury by elevating pyruvate dehydrogenase-mediated aerobic metabolism. Mol Biosyst. 2017;13:1504-1511 pubmed publisher..This is the first study on the proteomic expression of XST-treated myocardium with I/R injury to reveal that the cardioprotective effects of XST may be attributed to the PDH-mediated restoration of aerobic glucose oxidation. ..
- Kodama T, Bard Chapeau E, Newberg J, Kodama M, Rangel R, Yoshihara K, et al. Two-Step Forward Genetic Screen in Mice Identifies RalÂ GTPase-Activating Proteins as Suppressors of HepatocellularÂ Carcinoma. Gastroenterology. 2016;151:324-337.e12 pubmed publisher..These proteins might serve as therapeutic targets for liver cancer. ..
- Otsuka H, Sasai H, Nakama M, Aoyama Y, Abdelkreem E, Ohnishi H, et al. Exon 10 skipping in ACAT1 caused by a novel c.949G>A mutation located at an exonic splice enhancer site. Mol Med Rep. 2016;14:4906-4910 pubmed publisher..The present study demonstrates that a missense mutation, or even a synonymous substitution, may disrupt enzyme function by interference with splicing. ..
- Saei A, Sabatier P, Tokat Ü, Chernobrovkin A, Pirmoradian M, Zubarev R. Comparative Proteomics of Dying and Surviving Cancer Cells Improves the Identification of Drug Targets and Sheds Light on Cell Life/Death Decisions. Mol Cell Proteomics. 2018;17:1144-1155 pubmed publisher..Therefore, adding detached cells to the expression proteomics analysis of drug-treated cells can significantly increase the analytical value of the approach. The data have been deposited to the ProteomeXchange with identifier PXD007686. ..
- Fisher L, Davies C, Al Dirbashi O, Ten Brink H, Chakraborty P, Lepage N. A novel method for quantitation of acylglycines in human dried blood spots by UPLC-tandem mass spectrometry. Clin Biochem. 2018;54:131-138 pubmed publisher..This method shows potential application as a second tier screen in order to reduce the false positive rate for a number of IEM targeted by newborn screening. ..
- Yang Y, Fang X, Yang R, Yu H, Jiang P, Sun B, et al. MiR-152 Regulates Apoptosis and Triglyceride Production in MECs via Targeting ACAA2 and HSD17B12 Genes. Sci Rep. 2018;8:417 pubmed publisher..These findings suggested that miR-152 could significantly influence triglyceride production and suppress apoptosis, possibly via the expression of target genes ACAA2 and HSD17B12. ..
- Balasubramaniam S, Lewis B, Greed L, Meili D, Flier A, Yamamoto R, et al. Heterozygous Monocarboxylate Transporter 1 (MCT1, SLC16A1) Deficiency as a Cause of Recurrent Ketoacidosis. JIMD Rep. 2016;29:33-38 pubmed..Early diagnosis may enable improved disease management. Careful identification of potential triggers of metabolic decompensations in individuals even with single heterozygous mutations in the SLC16A1 gene is indicated. ..
- Schubert C, Raparelli V, Westphal C, Dworatzek E, Petrov G, Kararigas G, et al. Reduction of apoptosis and preservation of mitochondrial integrity under ischemia/reperfusion injury is mediated by estrogen receptor ?. Biol Sex Differ. 2016;7:53 pubmed publisher..Furthermore, E2 modulates MLC2 activation after I/R independent of ER?. ..
- Abdelkreem E, Akella R, Dave U, Sane S, Otsuka H, Sasai H, et al. Clinical and Mutational Characterizations of Ten Indian Patients with Beta-Ketothiolase Deficiency. JIMD Rep. 2017;35:59-65 pubmed publisher..Expression analyses confirmed pathogenicity of these mutations. T2 deficiency has a likely high incidence in India and p.Met193Arg may be a common mutation in the Indian population. ..
- Fang B, Zhang M, Ge K, Xing H, Ren F. α-Lactalbumin-oleic acid complex kills tumor cells by inducing excess energy metabolism but inhibiting mRNA expression of the related enzymes. J Dairy Sci. 2018;101:4853-4863 pubmed publisher..Our results may help clarify the mechanism of apoptosis induced by reactive oxygen species and mitochondrial destruction. ..
- Peng M, Li S, He Q, Zhao J, Li L, Ma H. Proteomics reveals changes in hepatic proteins during chicken embryonic development: an alternative model to study human obesity. BMC Genomics. 2018;19:29 pubmed publisher..These results provided information showing that chicken is a useful model to further investigate the mechanism of obesity and insulin resistance in humans. ..
- Miltiadou D, Hager Theodorides A, Symeou S, Constantinou C, Psifidi A, Banos G, et al. Variants in the 3' untranslated region of the ovine acetyl-coenzyme A acyltransferase 2 gene are associated with dairy traits and exhibit differential allelic expression. J Dairy Sci. 2017;100:6285-6297 pubmed publisher..This is the first study reporting differential allelic imbalance expression of a candidate gene associated with milk production traits in dairy sheep. ..
- Nguyen K, Abdelkreem E, Colombo R, Hasegawa Y, Can N, Bui T, et al. Characterization and outcome of 41 patients with beta-ketothiolase deficiency: 10 years' experience of a medical center in northern Vietnam. J Inherit Metab Dis. 2017;40:395-401 pubmed publisher..The direct management and long-term follow-up of a large number of T2-deficient patients enabled us to study the natural history of this rare disease. ..
- Blanc M, Karrman A, Kukucka P, Scherbak N, Keiter S. Mixture-specific gene expression in zebrafish (Danio rerio) embryos exposed to perfluorooctane sulfonic acid (PFOS), perfluorohexanoic acid (PFHxA) and 3,3',4,4',5-pentachlorobiphenyl (PCB126). Sci Total Environ. 2017;590-591:249-257 pubmed publisher..Moreover, it provides additional information as to the importance to integrate mixture effects of chemicals in risk assessment and biomonitoring frameworks. ..
- Sun R, Cao M, Zhang J, Yang W, Wei H, Meng X, et al. Benzene Exposure Alters Expression of Enzymes Involved in Fatty Acid ?-Oxidation in Male C3H/He Mice. Int J Environ Res Public Health. 2016;13: pubmed..Our results indicate that benzene induces increased expression of FA transport and ?-oxidation enzymes, mitochondrial dysfunction, and oxidative stress, which may play a role in benzene-induced hematotoxicity. ..
- Shrivastav S, Zhang L, Okamoto K, Lee H, Lagranha C, Abe Y, et al. HIV-1 Vpr enhances PPAR?/?-mediated transcription, increases PDK4 expression, and reduces PDC activity. Mol Endocrinol. 2013;27:1564-76 pubmed publisher..These results support the hypothesis that Vpr contributes to impaired energy metabolism and increased energy expenditure in HIV patients. ..
- 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..004131). Our results demonstrate that field cancerization occurs in CRC and affects gene expression in normal tissues extending from the tumor, which may provide new insights into CRC oncogenesis and patient progression...
- Abe H, Ohtake A, Yamamoto S, Satoh Y, Takayanagi M, Amaya Y, et al. Cloning and sequence analysis of a full length cDNA encoding human mitochondrial 3-oxoacyl-CoA thiolase. Biochim Biophys Acta. 1993;1216:304-6 pubmed..6% homology with that of the rat enzyme. Northern blot analysis gave a single mRNA species of 1.6 kb in the human liver, fibroblasts and intercostal muscle. ..
- Grünert S, Schmitt R, Schlatter S, Gemperle Britschgi C, Balci M, Berg V, et al. Clinical presentation and outcome in a series of 32 patients with 2-methylacetoacetyl-coenzyme A thiolase (MAT) deficiency. Mol Genet Metab. 2017;122:67-75 pubmed publisher..Our study underlines that the prognosis in MAT deficiency is good and MAT deficient individuals may remain asymptomatic, if diagnosed early and preventive measures are applied. ..
- Hamadneh L, Al Essa L, Hikmat S, Al Qirim T, Abu Sheikha G, Al Hiari Y, et al. N-(3-Benzoylphenyl)-1H-Indole-2-Carboxamide decreases triglyceride levels by downregulation of Apoc3 gene expression in acute hyperlipidemic rat model. Mol Cell Biochem. 2017;431:133-138 pubmed publisher..In conclusion, gene expression profiling identified the possible mechanism in which Triton WR1339 induces its acute hyperlipidemic effect which was reversed by the use of N-(3-Benzoylphenyl)-1H-Indole-2-Carboxamide. ..
- Cao W, Liu N, Tang S, Bao L, Shen L, Yuan H, et al. Acetyl-Coenzyme A acyltransferase 2 attenuates the apoptotic effects of BNIP3 in two human cell lines. Biochim Biophys Acta. 2008;1780:873-80 pubmed publisher..These results strongly suggest that ACAA2 be a functional BNIP3 binding partner and provide a possible linkage between fatty acid metabolism and apoptosis of cells. ..
- Seedorf U, Ellinghaus P, Roch Nofer J. Sterol carrier protein-2. Biochim Biophys Acta. 2000;1486:45-54 pubmed