APRT, adenine phosphoribosyltransferase, 353

N. diseases: 384; N. variants: 12
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0006111
Disease: Brain Diseases
Brain Diseases
0.010 Biomarker group BEFREE While much is known about BDNF signaling in the healthy nervous system where it controls the mitogen activated protein kinase (MAPK) and cyclic-AMP pathways, less is known about its role in multiple brain disorders where it contributes to the dysregulated neuroplasticity seen in epilepsy and traumatic brain injury (TBI). 31455240 2019
CUI: C0014118
Disease: Endocarditis
Endocarditis
0.010 Biomarker disease BEFREE Here, we studied the phenotypic alterations induced by the increased intracellular c-di-AMP levels in <i>Streptococcus gallolyticus</i>, an opportunistic pathogen responsible for septicemia and endocarditis in the elderly.We report that an <i>S. gallolyticus</i> c-di-AMP phosphodiesterase <i>gdpP</i> knockout mutant, which displays a 1.5-fold higher intracellular c-di-AMP levels than the parental strain UCN34, is more sensitive to osmotic stress and is morphologically smaller than the parental strain. 30617242 2019
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.010 Biomarker disease BEFREE While much is known about BDNF signaling in the healthy nervous system where it controls the mitogen activated protein kinase (MAPK) and cyclic-AMP pathways, less is known about its role in multiple brain disorders where it contributes to the dysregulated neuroplasticity seen in epilepsy and traumatic brain injury (TBI). 31455240 2019
CUI: C0020429
Disease: Hyperalgesia
Hyperalgesia
0.010 Biomarker phenotype BEFREE Indirect AMP-Activated Protein Kinase Activators Prevent Incision-Induced Hyperalgesia and Block Hyperalgesic Priming, Whereas Positive Allosteric Modulators Block Only Priming in Mice. 31324647 2019
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
0.010 PosttranslationalModification disease BEFREE In addition, we found that policosanol supplementation stimulated an increase in fecal cholesterol and bile acid contents and deactivated 3-hydroxy-3-methylglutaryl-CoA (HMG-CoA) reductase by AMP-activated protein kinase (AMPK) phosphorylation during high-fat and high-cholesterol-containing diet-induced development of hypercholesterolemia. 31613687 2019
CUI: C0022660
Disease: Kidney Failure, Acute
Kidney Failure, Acute
0.010 Biomarker disease BEFREE We investigated whether the AMP-kinase activator AICAR ameliorates cisplatin-induced AKI through the JAK/STAT/SOCS pathway. 30616891 2019
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis
0.010 AlteredExpression disease BEFREE The current work was engrossed to weigh the potential role of Cichorium intybus linn against thioacetamide (TAA)-induced liver cirrhosis and their probable underlying biochemical and molecular mechanisms. farnesoid-X-receptor (FXR) expression, proliferating cell nuclear antigen (PCNA) immunoreactivity, and activated AMP protein kinase (pAMPK), sirtuin-1 (SIRT1), and interleukin-6 (IL6) levels were estimated in hepatic tissue by real-time PCR, immunohistochemistry, and immunoassay, respectively. 31368578 2019
CUI: C0025267
Disease: Multiple Endocrine Neoplasia Type 1
Multiple Endocrine Neoplasia Type 1
0.010 GeneticVariation disease BEFREE Here, TENGEN proposes adjustments to the ACMG-AMP framework for the interpretation of MEN1 missense variants. 30869828 2019
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma
0.010 Biomarker disease BEFREE Wilms tumor 1 (WT1), Zonula occludens-1 (ZO-1), AMP activated protein kinase (AMPK), and NADPH oxidase-4 (NOX-4) expression were evaluated by immunohistochemistry and Western blot. 30820023 2019
CUI: C0027796
Disease: Neuralgia
Neuralgia
0.010 Biomarker phenotype BEFREE Recent evidence has revealed that AMP‑activated protein kinase (AMPK) in the central nervous system (CNS) regulates the neuropeptide calcitonin gene‑related peptide (CGRP), a principal neurotransmitter of the class C nerve fiber, which serves an important role in initiating and maintaining neuropathic pain. 31173269 2019
CUI: C0030201
Disease: Pain, Postoperative
Pain, Postoperative
0.010 AlteredExpression phenotype BEFREE Antihyperalgesia effect of AMP-activated protein kinase (AMPK) activators in a mouse model of postoperative pain. 31229963 2019
CUI: C0034069
Disease: Pulmonary Fibrosis
Pulmonary Fibrosis
0.010 Biomarker disease BEFREE Combined Activation of Guanylate Cyclase and Cyclic AMP in Lung Fibroblasts as a Novel Therapeutic Concept for Lung Fibrosis. 30984775 2019
CUI: C0079744
Disease: Diffuse Large B-Cell Lymphoma
Diffuse Large B-Cell Lymphoma
0.010 AlteredExpression disease BEFREE In the present study, we aim to examine the relationship between genetic polymorphism and transcriptional expression of cyclic AMP response element binding protein (<i>CREBBP</i>) and the risk of diffuse large B-cell lymphoma (DLBCL). 31366566 2019
CUI: C0151718
Disease: Hypocholesterolemia
Hypocholesterolemia
0.010 Biomarker disease BEFREE Ang II-induced inositol phosphate production through AT<sub>1</sub> receptor was suppressed by cholesterol depletion from cell membranes using rosuvastatin or methyl-β-cyclodextrin (MβCD), whereas isoproterenol-induced cyclic AMP production through β<sub>1</sub>-Ad receptor did not change after cholesterol depletion. 31079923 2019
CUI: C0153381
Disease: Malignant neoplasm of mouth
Malignant neoplasm of mouth
0.010 Biomarker group BEFREE Metabolic Regulation of Glycolysis and AMP Activated Protein Kinase Pathways during Black Raspberry-Mediated Oral Cancer Chemoprevention. 31336728 2019
CUI: C0206698
Disease: Cholangiocarcinoma
Cholangiocarcinoma
0.010 Biomarker disease BEFREE Metformin Induces Apoptosis and Inhibits Proliferation through the AMP-Activated Protein Kinase and Insulin-like Growth Factor 1 Receptor Pathways in the Bile Duct Cancer Cells. 31205529 2019
CUI: C0206708
Disease: Cervical Intraepithelial Neoplasia
Cervical Intraepithelial Neoplasia
0.010 Biomarker disease BEFREE Seven metabolites (AMP, aspartate, glutamate, hypoxanthine, lactate, proline, and pyroglutamate) were discriminated between CINs and cervical cancer versus normal (area under the curve (AUC) value > 0.8). 30974861 2019
CUI: C0206754
Disease: Neuroendocrine Tumors
Neuroendocrine Tumors
0.010 Biomarker group BEFREE Here, we compared the interpretation of the 122 MEN1 missense variants, identified in the French population over the past 15 years by the TENGEN network (French oncogenetics network of neuroendocrine tumors) versus by using the ACMG-AMP guidelines, and analyzed the causes of discordance. 30869828 2019
CUI: C0220641
Disease: Lip and Oral Cavity Carcinoma
Lip and Oral Cavity Carcinoma
0.010 Biomarker disease BEFREE Metabolic Regulation of Glycolysis and AMP Activated Protein Kinase Pathways during Black Raspberry-Mediated Oral Cancer Chemoprevention. 31336728 2019
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma
0.010 GeneticVariation disease BEFREE Genetic variants in the liver kinase B1-AMP-activated protein kinase pathway genes and pancreatic cancer risk. 30997723 2019
Gastroparesis with diabetes mellitus
0.010 AlteredExpression disease BEFREE To observe changes in AMP-activated protein kinase (AMPK) activity and phosphorylation changes in AMPK signaling pathway in gastric smooth muscle cells of rats with diabetic gastroparesis (DGP), investigate the effect of AMPK on apoptosis and explore the underlying mechanism. 31769476 2019
CUI: C0268104
Disease: Disorder of purine metabolism
Disorder of purine metabolism
0.010 Biomarker group BEFREE Adenine phosphoribosyltransferase (APRT) deficiency is a hereditary purine metabolism disorder that causes kidney stones and chronic kidney disease (CKD). 30443743 2019
CUI: C0271650
Disease: Impaired glucose tolerance
Impaired glucose tolerance
0.010 AlteredExpression phenotype BEFREE 5'-AMP administration resulted in an increase in dose-dependent purine metabolites and different levels of glucose intolerance. 31447776 2019
CUI: C0279606
Disease: Childhood Hepatocellular Carcinoma
Childhood Hepatocellular Carcinoma
0.010 AlteredExpression disease BEFREE Targeting AMP-activated kinase impacts hepatocellular cancer stem cells induced by long-term treatment with sorafenib. 30959553 2019
CUI: C0279607
Disease: Adult Hepatocellular Carcinoma
Adult Hepatocellular Carcinoma
0.010 AlteredExpression disease BEFREE Targeting AMP-activated kinase impacts hepatocellular cancer stem cells induced by long-term treatment with sorafenib. 30959553 2019