| GBA3 promotes fatty acid oxidation and alleviates non-alcoholic fatty liver by increasing CPT2 transcription. | GBA3 promotes fatty acid oxidation and alleviates non-alcoholic fatty liver by increasing CPT2 transcription.
Li J, Ni Y, Zhang Y, Liu H., Free PMC Article | 03/25/2024 |
| Myopathy due to carnitine palmitoyltransferase II deficiency: updating genetic aspects of the first publication in Brazil. | Myopathy due to carnitine palmitoyltransferase II deficiency: updating genetic aspects of the first publication in Brazil.
Lorenzoni PJ, Kay CSK, Ducci RD, Fustes OJH, Rodrigues PRDVP, Arndt RC, Scola RH, Werneck LC., Free PMC Article | 02/29/2024 |
| SGMS1-AS1/MicroRNA-106a-5p/CPT2 Axis as a Novel Target for Regulating Lactate Metabolism in Colon Cancer. | SGMS1-AS1/MicroRNA-106a-5p/CPT2 Axis as a Novel Target for Regulating Lactate Metabolism in Colon Cancer.
Ruochen Y, Wenbin J, Chao G, Yuhua Y, Feng Q., Free PMC Article | 11/21/2023 |
| Role of PPAR-related genes in chronic heart failure: evidence from large populations. | Role of PPAR-related genes in chronic heart failure: evidence from large populations.
Ke ZP, Tao WQ, Zhao G, Cheng K., Free PMC Article | 11/14/2023 |
| Identification of CPT2 as a prognostic biomarker by integrating the metabolism-associated gene signature in colorectal cancer. | Identification of CPT2 as a prognostic biomarker by integrating the metabolism-associated gene signature in colorectal cancer.
Liu J, Li Y, Xiao Q, Li Y, Peng Y, Gan Y, Shu G, Yi H, Yin G., Free PMC Article | 10/8/2022 |
| Downregulation of CPT2 promotes proliferation and inhibits apoptosis through p53 pathway in colorectal cancer. | Downregulation of CPT2 promotes proliferation and inhibits apoptosis through p53 pathway in colorectal cancer.
Liu F, Li X, Yan H, Wu J, Yang Y, He J, Chen J, Jiang Z, Wu F, Jiang Z. | 07/16/2022 |
| Novel mutations associated with carnitine-acylcarnitine translocase and carnitine palmitoyl transferase 2 deficiencies in Malaysia. | Novel mutations associated with carnitine-acylcarnitine translocase and carnitine palmitoyl transferase 2 deficiencies in Malaysia.
Habib A, Azize NAA, Rahman SA, Yakob Y, Suberamaniam V, Nazri MIBA, Abdullah Sani H, Ch'ng GS, Yin LH, Olpin S, Lock-Hock N. | 01/29/2022 |
| Kinetics of Serum Carnitine Fractions in Patients with Chronic Kidney Disease Not on Dialysis. | Kinetics of Serum Carnitine Fractions in Patients with Chronic Kidney Disease Not on Dialysis.
Yano J, Ito S, Kodama G, Nakayama Y, Kaida Y, Yokota Y, Kinoshita Y, Tashiro K, Fukami K. | 01/15/2022 |
| HRD1 inhibits fatty acid oxidation and tumorigenesis by ubiquitinating CPT2 in triple-negative breast cancer. | HRD1 inhibits fatty acid oxidation and tumorigenesis by ubiquitinating CPT2 in triple-negative breast cancer.
Guo X, Wang A, Wang W, Wang Y, Chen H, Liu X, Xia T, Zhang A, Chen D, Qi H, Ling T, Piao HL, Wang HJ., Free PMC Article | 11/27/2021 |
| Successful orthotopic heart transplantation in CPTII deficiency. | Successful orthotopic heart transplantation in CPTII deficiency.
Arnold GL, Yester J, McCracken E, Feingold BD, Vockley J., Free PMC Article | 09/11/2021 |
| Carnitine palmitoyltransferase II deficiency in a prenatal case with polycystic kidney disease-like phenotype. | Carnitine palmitoyltransferase II deficiency in a prenatal case with polycystic kidney disease-like phenotype.
He Y, Li DZ. | 05/29/2021 |
| in 416 patients of acute encephalopathy, including both severe and mild syndrome, minor allele frequency of rs2229291 was significantly higher in acute encephalopathy with biphasic seizures (p=0.044), MERS (p=0.015) and entire acute encephalopathy (p=0.044) compared to the controls. | Thermolabile polymorphism of carnitine palmitoyltransferase 2: A genetic risk factor of overall acute encephalopathy.
Shibata A, Kasai M, Hoshino A, Miyagawa T, Matsumoto H, Yamanaka G, Kikuchi K, Kuki I, Kumakura A, Hara S, Shiihara T, Yamazaki S, Ohta M, Yamagata T, Takanashi JI, Kubota M, Oka A, Mizuguchi M. | 04/11/2020 |
| rs1799822 in the CPT2 gene is associated with the severity of EV71 encephalitis in Chinese children. | Association of the Polymorphism of rs1799822 on Carnitine Palmitoyltransferase II Gene with Severe Enterovirus 71 Encephalitis in Chinese Children.
Guo Y, Zhang Y, Liu P, Li F, Xin D, He H, Liu Y, Yang C, Chen Z. | 02/15/2020 |
| We used metabolomics to demonstrate that inhibition of CDK9 leads to accumulation of acyl-carnitines, metabolic intermediates in fatty acid oxidation (FAO). Acyl-carnitines are produced by carnitine palmitoyltransferase enzymes 1 and 2 (CPT), and we used both genetic and pharmacological tools to show that inhibition of CPT-activity is synthetically lethal with CDK9 inhibition | CDK9 Inhibition Induces a Metabolic Switch that Renders Prostate Cancer Cells Dependent on Fatty Acid Oxidation.
Itkonen HM, Poulose N, Walker S, Mills IG., Free PMC Article | 12/21/2019 |
| Lack of activation of the S113L variant of carnitine palmitoyltransfersase II by cardiolipin. | Lack of activation of the S113L variant of carnitine palmitoyltransfersase II by cardiolipin.
Motlagh Scholle L, Thaele A, Beckers M, Meinhardt B, Zierz S. | 09/21/2019 |
| The results show that AMPK activation by GSK773 evokes the slow, oxidative myogenic program and triggers beneficial phenotypic adaptations in FAO-deficient myotubes. Thus, GSK773 might have therapeutic potential for correction of CPT2 deficiency | A new AMPK activator, GSK773, corrects fatty acid oxidation and differentiation defect in CPT2-deficient myotubes.
Boufroura FZ, Le Bachelier C, Tomkiewicz-Raulet C, Schlemmer D, Benoist JF, Grondin P, Lamotte Y, Mirguet O, Mouillet-Richard S, Bastin J, Djouadi F. | 03/30/2019 |
| To the best of our knowledge, this is the first report of the coexistence of VHL disease and CPT2 deficiency in the same individual. Based on findings from animal models, the case illustrates that mutations in the VHL gene might protect against renal damage caused by CPT2 gene mutations. | Coexistence of VHL Disease and CPT2 Deficiency: A Case Report.
Ferrara AM, Sciacco M, Zovato S, Rizzati S, Colombo I, Boaretto F, Moggio M, Opocher G., Free PMC Article | 02/3/2018 |
| this study shows that upregulation of the citrate pathway and down-regulation of carnitine/acylcarnitine carrier gene in cells from children with Down syndrome | The contribution of the citrate pathway to oxidative stress in Down syndrome.
Convertini P, Menga A, Andria G, Scala I, Santarsiero A, Castiglione Morelli MA, Iacobazzi V, Infantino V., Free PMC Article | 05/20/2017 |
| The clinical presentation of patients with muscle carnitine palmitoyltransferase II deficiency is discussed in this review in line with enzymatic features. The thermolability of the mutant enzyme might explain why symptoms in muscle CPT II deficiency mainly occur during prolonged exercise, infections and exposure to cold. [review] | Muscle Carnitine Palmitoyltransferase II Deficiency: A Review of Enzymatic Controversy and Clinical Features.
Lehmann D, Motlagh L, Robaa D, Zierz S., Free PMC Article | 04/22/2017 |
| Variations in AMPD1, CPT2, and PGYM genes are not associated with the onset, susceptibility, or severity of chronic fatigue syndrome. | Genetic evaluation of AMPD1, CPT2, and PGYM metabolic enzymes in patients with chronic fatigue syndrome.
Maltese PE, Venturini L, Poplavskaya E, Bertelli M, Cecchin S, Granato M, Nikulina SY, Salmina A, Aksyutina N, Capelli E, Ricevuti G, Lorusso L. | 03/4/2017 |
| polymorphism may be associated with severity of EV71 infection | Carnitine palmitoyl transferase 2 polymorphism may be associated with enterovirus 71 severe infection in a Chinese population.
Liu P, Liu X, Hu J, Han Z, Li F, Wang Y, Song L, Chen Z. | 09/3/2016 |
| CPT2 is active inside the mitochondrial matrix to recover acyl-CoA from a process generally known as the carnitine shuttle. This protein is expressed in a constitutive way in all cells and tissues. | The Carnitine Palmitoyl Transferase (CPT) System and Possible Relevance for Neuropsychiatric and Neurological Conditions.
Virmani A, Pinto L, Bauermann O, Zerelli S, Diedenhofen A, Binienda ZK, Ali SF, van der Leij FR. | 06/28/2016 |
| CPT II deficiency induces an energy crisis of the fatty acid metabolic pathway. | Abbreviated half-lives and impaired fuel utilization in carnitine palmitoyltransferase II variant fibroblasts.
Yao M, Cai M, Yao D, Xu X, Yang R, Li Y, Zhang Y, Kido H, Yao D., Free PMC Article | 03/19/2016 |
| L-carnitine deficiency participates in the pathogenesis of endometrial cancer by means of a mechanism which is unrelated with obesity and increased amount of fat in human body. | L-Carnitine: a new insight into the pathogenesis of endometrial cancer.
Arioz DT, Kanat-Pektas M, Tuncer N, Koken T, Unlu BS, Koken G, Yilmazer M. | 09/12/2015 |
| The rs2229291 and rs1799821 variants in CPT II gene might be one of the predisposing factors of acute encephalitis. | Association of CPT II gene with risk of acute encephalitis in Chinese children.
Hu J, Chen Z, Liu X, Chen Z, Xin D, Liu P. | 06/27/2015 |