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: C0233514
Disease: Abnormal behavior
Abnormal behavior
0.100 Biomarker phenotype HPO
CUI: C0001306
Disease: Acute alcoholic liver disease
Acute alcoholic liver disease
0.200 Therapeutic disease RGD Dihydroartemisinin protects against alcoholic liver injury through alleviating hepatocyte steatosis in a farnesoid X receptor-dependent manner. 27939985 2017
CUI: C0851887
Disease: Adenoviral infections
Adenoviral infections
0.010 Biomarker group BEFREE Thus, we expressed carnitine palmitoyltransferase 1AM (CPT1AM), a permanently active mutant form of CPT1A (the rate-limiting enzyme in FAO), in a rat brown adipocyte (rBA) cell line through adenoviral infection. 27438137 2016
CUI: C4551683
Disease: Adrenal Gland Pheochromocytoma
Adrenal Gland Pheochromocytoma
0.010 Biomarker disease BEFREE Finally, the simultaneous increase of CPT1A, CACT and CrAT is fundamental for PCCs to sustain FA oxidation in the presence of heavy lipid load on prostate cancer mitochondria. 28671672 2017
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma
0.010 AlteredExpression disease BEFREE We evidenced that high grade glioblastoma is associated with increased level of ZFP57, a protein involved in gene imprinting, and aberrant expression of CPT1A and CPT1C, regulators of fatty acid oxidation. 24618825 2014
CUI: C0220630
Disease: Adult Liver Carcinoma
Adult Liver Carcinoma
0.010 AlteredExpression disease BEFREE The up-regulation of expression of hepatic genes related to liver steatosis (CPT1A, FASN, LEPR, RXRA, IGFBP1, PPARGC1A and SLC2A4) was detected in our rhesus model, as was the down-regulation of such genes (CYP7A1, HMGCR, GCK and PNPLA3) and the up-regulation of expression of hepatic genes related to liver cancer (E2F1, OPCML, FZD7, IGFBP1 and LEF1). 26442469 2015
CUI: C0002152
Disease: Alloxan Diabetes
Alloxan Diabetes
0.300 Biomarker disease CTD_human Chronic hyperglycemia, independent of plasma lipid levels, is sufficient for the loss of beta-cell differentiation and secretory function in the db/db mouse model of diabetes. 16123366 2005
CUI: C0206655
Disease: Alveolar rhabdomyosarcoma
Alveolar rhabdomyosarcoma
0.010 Biomarker disease BEFREE CPT1A may represent a novel therapeutic target for the treatment of ARMS. 22533991 2012
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: C0178417
Disease: Anhedonia
Anhedonia
0.010 Biomarker disease BEFREE This indicate that alteration in metabolism is pivotal in the pathogenesis of depression, since CPT1 blockage is highly efficient in treating anhedonia and inflammation, thereby opening up for a novel class of antidepressant medication. 28526869 2017
CUI: C0003872
Disease: Arthritis, Psoriatic
Arthritis, Psoriatic
0.020 Biomarker disease BEFREE Additionally, 1,25(OH)2D significantly increased ATP levels and gene expression related to mitochondrial function such as carnitine palmitoyltransferase 1 (CPT1), peroxisome proliferator-activated receptor α (PPARα), very long-chain acyl-CoA dehydrogenase (VLCAD), long-chain acyl-CoA dehydrogenase (LCAD), medium-chain acyl-CoA dehydrogenase (MCAD), uncoupling protein 2 (UCP2), and UCP3 and the vitamin D pathway including 25-dihydroxyvitamin D3 24-hydroxylase (CYP24) and 25-hydroxyvitamin D3 1-alpha-hydroxylase (CYP27) in PA-treated C2C12 myotubes. 31744213 2019
CUI: C0003872
Disease: Arthritis, Psoriatic
Arthritis, Psoriatic
0.020 AlteredExpression disease BEFREE Results showed that compared with the PA-alone group, 100 μM capsiate inhibited lipid accumulation, decreased TG (0.0562 ± 0.0142 vs 0.0381 ± 0.0055 mmol/g of protein; P = 0.024) and TC (0.1087 ± 0.0037 vs 0.0359 ± 0.0059 mmol/g of protein; P = 0.000) levels, and increased the HDL-C level (0.0189 ± 0.0067 vs 0.1050 ± 0.0106 mmol/g of protein; P = 0.000) and glycogen content (0.0065 ± 0.0007 vs 0.0146 ± 0.0008 mg/10<sup>6</sup> cells; P = 0.000) of PA-treated HepG2 cells; 100 μM capsiate also upregulated the level of CD36 ( P = 0.000), phosphorylation of ACC ( P = 0.034), and expression of CPT1 ( P = 0.013) in PA-treated HepG2 cells, leading to an enhancement of lipid metabolism. 29886733 2018
CUI: C0005938
Disease: Bone Density
Bone Density
0.100 GeneticVariation phenotype GWASCAT Life-Course Genome-wide Association Study Meta-analysis of Total Body BMD and Assessment of Age-Specific Effects. 29304378 2018
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.370 GeneticVariation disease BEFREE These findings provide evidence of the CPT1 variant 2 involvement in breast cancer survival, cell death escape and invasion. 26799588 2016
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.370 Biomarker disease CTD_human An integrated genomics approach identifies drivers of proliferation in luminal-subtype human breast cancer. 25151356 2014
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.370 Biomarker disease BEFREE CPT1A (carnitine palmitoyltransferase 1a) has been reported to play a critical role in breast cancer progress. 29940537 2018
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.370 AlteredExpression disease BEFREE Enhanced CPT1A/CPT2 expression was detected in the recurrent human breast cancers and associated with a worse prognosis in breast cancer patients. 31803610 2019
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.370 AlteredExpression disease BEFREE The results of the present study indicate that NEAT1 promotes the expression of CPT1A by inhibiting miR‑107 to improve the progression of BC cells; therefore, NEAT1 is a potential therapeutic target of BC. 31485672 2019
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.370 AlteredExpression disease BEFREE PRL stimulation increased the expression of CPT1A (liver isoform) at the mRNA and protein levels in both breast cancer cell lines, but not in 184B5 cells. 21294903 2011
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.370 Biomarker disease BEFREE We have studied the tumor-specific modulation of CPT1 and FAS in human colorectal cancer (n = 11) and breast carcinomas (n = 24). 18253084 2007
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.370 AlteredExpression disease BEFREE A doxycycline-inducible breast cancer cell line model overexpressing the rate-limiting enzyme in FAO, carnitine palmitoyl transferase 1A (CPT1A) was generated and analysed to confirm the association between FAO and cancer-associated characteristics in vitro. 30092766 2018
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
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.020 Biomarker phenotype BEFREE Increasing evidence has indicated that CPT1A plays an important role in carcinogenesis. 30016793 2018
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.020 GeneticVariation phenotype BEFREE The proliferation and tumorigenesis in V600E melanoma were decrease after CPT1A knockdown. 27793752 2016
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.020 Biomarker group BEFREE The peculiar localization of CPT1 in the nuclei of human carcinomas and the disclosed functional link between nuclear CPT1 and HDAC1 propose a new role of CPT1 in the histonic acetylation level of tumors. 18253084 2007