CPT1A, carnitine palmitoyltransferase 1A, 1374

N. diseases: 143; N. variants: 61
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.010 AlteredExpression disease BEFREE Similarly, treatment of a mouse model of AD, the APP/PS1-mice, with GW0742 increased the expression of Cpt1a and concomitantly reversed memory deficits in a fear conditioning test. 30453390 2019
CUI: C0014070
Disease: Encephalomyelitis
Encephalomyelitis
0.010 GeneticVariation disease BEFREE Interestingly, mice with downregulated lipid metabolism due to the Cpt1a P479L mutation showed resistance to EAE induction. 31527712 2019
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia
0.010 Biomarker phenotype BEFREE In addition, the splicing of the β-oxidation enzyme, CPT1, was altered in the SF2-RNAi flies potentially promoting the increased triglycerides in these animals. 31277943 2019
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach
0.010 Biomarker disease BEFREE Taken together, this study reveals a novel mechanism of S100A10 accumulation mediated by succinylation in GC, which promotes GC progression and is regulated by the succinyltransferase CPT1A and SIRT5-mediated desuccinylation. 30394687 2019
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.010 Biomarker disease BEFREE CPT1A plays a key role in the development and treatment of multiple sclerosis and experimental autoimmune encephalomyelitis. 31527712 2019
Medium-chain acyl-coenzyme A dehydrogenase deficiency
0.010 GeneticVariation disease BEFREE Eighty-three clinical charts, including 66 medium-chain acyl-CoA dehydrogenase deficiency (MCADD), 5 carnitine-uptake deficiency (CUD), 3 carnitine palmitoyltransferase I and II (CPT I/II) deficiency, 5 very long-chain acyl-CoA dehydrogenase deficiency (VLCADD), and 4 multiple acyl-CoA dehydrogenase deficiency (MADD) cases were reviewed. 30617651 2019
CUI: C0233794
Disease: Memory impairment
Memory impairment
0.010 AlteredExpression phenotype BEFREE Similarly, treatment of a mouse model of AD, the APP/PS1-mice, with GW0742 increased the expression of Cpt1a and concomitantly reversed memory deficits in a fear conditioning test. 30453390 2019
CUI: C0236734
Disease: Caffeine related disorders
Caffeine related disorders
0.010 Biomarker group BEFREE When administrated alone, caffeine (5 and 50 mg/kg) and 8-CPT (1 and 5 mg/kg) significantly decreased seizure threshold, while 100 mg/kg of caffeine, SCH-442416 or sildenafil did not change it. 30391360 2019
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
0.010 GeneticVariation disease BEFREE Eighty-three clinical charts, including 66 medium-chain acyl-CoA dehydrogenase deficiency (MCADD), 5 carnitine-uptake deficiency (CUD), 3 carnitine palmitoyltransferase I and II (CPT I/II) deficiency, 5 very long-chain acyl-CoA dehydrogenase deficiency (VLCADD), and 4 multiple acyl-CoA dehydrogenase deficiency (MADD) cases were reviewed. 30617651 2019
CUI: C0342788
Disease: Renal carnitine transport defect
Renal carnitine transport defect
0.010 GeneticVariation disease BEFREE Eighty-three clinical charts, including 66 medium-chain acyl-CoA dehydrogenase deficiency (MCADD), 5 carnitine-uptake deficiency (CUD), 3 carnitine palmitoyltransferase I and II (CPT I/II) deficiency, 5 very long-chain acyl-CoA dehydrogenase deficiency (VLCADD), and 4 multiple acyl-CoA dehydrogenase deficiency (MADD) cases were reviewed. 30617651 2019
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma
0.010 Biomarker disease BEFREE Taken together, this study reveals a novel mechanism of S100A10 accumulation mediated by succinylation in GC, which promotes GC progression and is regulated by the succinyltransferase CPT1A and SIRT5-mediated desuccinylation. 30394687 2019
CUI: C1328504
Disease: Hormone refractory prostate cancer
Hormone refractory prostate cancer
0.010 Biomarker disease BEFREE CPT1A Supports Castration-Resistant Prostate Cancer in Androgen-Deprived Conditions. 31547059 2019
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension
0.010 Biomarker disease BEFREE CPT1 regulates the proliferation of pulmonary artery smooth muscle cells through the AMPK-p53-p21 pathway in pulmonary arterial hypertension. 30511343 2019
Idiopathic pulmonary arterial hypertension
0.010 AlteredExpression disease BEFREE We found that CPT1 was highly expressed in rat lungs and pulmonary arteries in monocrotaline-induced PAH, accompanied by decreased adenosine triphosphate (ATP) production and downregulation of the AMPK-p53-p21 pathway. 30511343 2019
CUI: C0002875
Disease: Cooley's anemia
Cooley's anemia
0.010 AlteredExpression disease BEFREE Thus, a low level of free carnitine and acylcarnitines together with impaired CPT-1 activity contribute to energy crisis-related complications in the patients with BTM. 30046479 2018
CUI: C0008073
Disease: Developmental Disabilities
Developmental Disabilities
0.010 Biomarker group BEFREE Two patients with LCHAD/MTP deficiencies died due to severe cardiomyopathy in the neonatal period, and developmental disability was noted in CPT1A deficiency (1 patient). 29519241 2018
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases
0.010 Biomarker group BEFREE Hence, endothelial loss of FAO-controlling CPT1A in CPT1A<sup>ΔEC</sup> mice promotes EC dysfunction (leukocyte infiltration, barrier disruption) by increasing endothelial oxidative stress, rendering CPT1A<sup>ΔEC</sup> mice more susceptible to LPS and inflammatory bowel disease. 30146488 2018
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome
0.010 Biomarker disease BEFREE Increased protein expression of PPAR-γ was accompanied by up regulation in SREBP1c, FAS, CPT-1 and ACC-1 genes in PCOS-IR group. 29339197 2018
CUI: C0220756
Disease: Niemann-Pick Disease, Type C
Niemann-Pick Disease, Type C
0.010 Biomarker disease BEFREE NPC tumor tissue microarray was used to investigate the prognostic role of CPT1A. 29721083 2018
Transient erythroblastopenia of childhood
0.010 AlteredExpression disease BEFREE BBR significantly up-regulated the protein expression of CPT1A, PPARα, and PGC1α in TECs treated with or without PA, and reversed PA-induced intracellular lipid accumulation and apoptosis. 29528039 2018
CUI: C0242339
Disease: Dyslipidemias
Dyslipidemias
0.010 AlteredExpression group BEFREE Even so, NP-1 ameliorated fatty liver and corrected dyslipidemia by mechanisms probably associated with reduced feeding, transcription of Cpt1 and down-regulation of Hmgcr-CoA expression. 29959379 2018
CUI: C0410158
Disease: Muscle damage
Muscle damage
0.010 Biomarker phenotype BEFREE Our previous research demonstrated that Platycodon grandiflorum-derived saponin (PS) protects against eccentric exercise-induced muscle damage and mitochondrial function-related peroxisomal acyl-coenzme A oxidase (ACOX-1) and carnitine palmitoyltransferase (CPT-1) in high-fat diet-induced non-alcoholic steatohepatitis, and it inhibits osteoclast differentiation. 29723585 2018
CUI: C0751674
Disease: Lymphangioleiomyomatosis
Lymphangioleiomyomatosis
0.010 Biomarker disease BEFREE Immunohistochemical analysis of p-S6 (mTORC1 downstream protein), Rictor (mTORC2 scaffold protein) as well as GLUT1, GAPDH, ATPB, GLS, MCT1, ACSS2 and CPT1A (metabolic pathway markers) were performed on lung tissue from 11 patients with sporadic LAM. 29885404 2018
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.010 Biomarker disease BEFREE In conclusion, fatty acids oxidation axis PPARα-CD36-CPT1A was involved in the pro-angiogenic roles of DQP against CAD. 30564122 2018
CUI: C2718017
Disease: TDP-43 Proteinopathies
TDP-43 Proteinopathies
0.010 AlteredExpression disease BEFREE Our findings indicate that components of the carnitine shuttle are misexpressed in the context of TDP-43 proteinopathy and that genetic modulation of CPT1 or CPT2 expression, two core components of the carnitine shuttle, mitigates TDP-43 dependent locomotor dysfunction, in a variant dependent manner. 29904341 2018