EC Number   |
Recommended Name |
Application |
|---|
    7.1.1.2 | NADH:ubiquinone reductase (H+-translocating) |
medicine |
gene therapy approaches involving Ndi1p may offer substantial clinical benefits in cases of complex I deficiency |
| 7.1.1.2 | NADH:ubiquinone reductase (H+-translocating) |
medicine |
alterations in mitochondrial membrane complex MMC-I may constitute an inheritable risk factor for endometriosis. MMC-I expression in eutopic endometria of patients is elevated compared to controls. Haplotype 10398A/10400C/13603AG and haplogroup N show higher endometriosis risk |
| 7.1.1.2 | NADH:ubiquinone reductase (H+-translocating) |
medicine |
in rats subjected to left descending artery occlusion followed by reperfusion, treatment with 3,4-dihydroxyl-phenyl lactic acid ameliorates myocardial structure and function disorder, blunts the impairment of Complex I activity and mitochondrial function after ischemia/reperfusion. 3,4-Dihydroxyl-phenyl lactic acid DLA is able to prevent ischemia/reperfusion-induced decrease in NDUFA10 expression, improve complex I activity and mitochondrial function, eventually attenuate cardiac structure and function injury after ischemia/reperfusion |
| 7.1.1.2 | NADH:ubiquinone reductase (H+-translocating) |
medicine |
metformin used in treatment for type II diabetes mellitus, inhibits activity of NADH:ubiquinone oxidoreductase (complex I) |
| 7.1.1.7 | quinol oxidase (electrogenic, proton-motive force generating) |
medicine |
cytochrome bd-I respiratory oxidase is the main contributor to NO tolerance and host colonisation under microaerobic conditions. Uropathogenic Escherichia coli strains have acquired a host of specialized mechanisms to evade nitrosative stresses |
| 7.1.1.8 | quinol-cytochrome-c reductase |
medicine |
complex III deficiency in the muscle mitochondria |
| 7.1.1.8 | quinol-cytochrome-c reductase |
medicine |
peripheral arterial disease |
| 7.1.1.8 | quinol-cytochrome-c reductase |
medicine |
test of respiratory-chain dysfunction in human mitochondrial myopathies |
| 7.1.1.8 | quinol-cytochrome-c reductase |
medicine |
serum ubiquinol cytochrome c reductase hinge is a diagnostic biomarker for lung adenocarcinoma |
| 7.1.1.8 | quinol-cytochrome-c reductase |
medicine |
the enzyme is a potential independent favorable prognostic factor for recurrence and survival of patients with clear cell renal cell carcinoma after nephrectomy |
| 7.1.1.9 | cytochrome-c oxidase |
medicine |
at therapeutic concentrations used for asthma relief, theophylline causes inhibition of the lung enzyme and decreases cellular ATP levels, suggesting a mechanism for its clinical action |
| 7.1.1.9 | cytochrome-c oxidase |
medicine |
A122T, i.e. m.6267G>A is a recurrent missense mutation in mitochondrially encoded cytochrome oxidase I specifically associated with cancer |
| 7.1.1.9 | cytochrome-c oxidase |
medicine |
amyloid beta which is involved in Alzheimers disease, specifically inhibits cytochrome-c oxidase |
| 7.1.1.9 | cytochrome-c oxidase |
medicine |
enzyme isoform cytochrome oxifdase III interacts with hepatitis B virus X protein |
| 7.1.1.9 | cytochrome-c oxidase |
medicine |
in skeletal muscle and brain of patients with mutations in genes SCO2 or SURF1, cytochrome-c oxidase holoenzyme is reduced to 10-20%, and to 10-30% in heart, whereas liver contains normal levels of enzyme. Heart, brain, and skeletal muscle of patients contain accumulated levels of enzyme subcomplexes of different subunits, but lacking subunit COX2. SCO2 is presumably involved in formation of the CuA centre of the COX2 subunit, and the lack of the CuA centre may result in decreased stability of COX2 |
| 7.1.1.9 | cytochrome-c oxidase |
medicine |
6W/Kg GSM 900MHz microwaves may affect brain metabolism and neuronal activity (cytochrome c oxidase activity) in rats |
| 7.1.1.9 | cytochrome-c oxidase |
medicine |
a single injection of exogenous cytochrome c 24 h post-cecal ligation and puncture repletes mitochondrial substrate levels for up to 72 h, restores myocardial COX activity, and significantly improves survival |
| 7.1.1.9 | cytochrome-c oxidase |
medicine |
antipsychotic drugs do not alter COX |
| 7.1.1.9 | cytochrome-c oxidase |
medicine |
CO histochemistry, which reflects neuronal activity, is altered at all levels of the auditory system in Relnrl-Orl mutants (with Orleans mutation, which selectively affects cell migration, cell orientation, and to a more limited extent, cell number in the brain tissue) |
| 7.1.1.9 | cytochrome-c oxidase |
medicine |
COX deficiency is a common cause of human mitochondrial disease |
| 7.1.1.9 | cytochrome-c oxidase |
medicine |
cytochrome oxidase deficiency is a result of heme deficiency that may be relevant to the demyelinating phenotype of the neurodegenerative disease Friedreich's ataxia. Heme-based stimulation of ironsulfur cluster biogenesis is a rational strategy for the neurodegenerative disease Friedreich's ataxia |
| 7.1.1.9 | cytochrome-c oxidase |
medicine |
cytochrome oxidase is a metabolic target of caffeine. Stimulation of Cox activity by caffeine via blockade of A2AR signaling may be an important mechanism underlying the therapeutic benefits of caffeine in Parkinsons disease |
| 7.1.1.9 | cytochrome-c oxidase |
medicine |
evidence of secondary loss of electron transport chain function (loss of complex II-III activity) resulting from a primary electron transport chain deficiency (of complex IV), which provides a possible mechanism for the progressive nature of mitochondrial encephalomyopathies and why in some patients multiple patterns of electron transport chain deficiencies may be demonstrated |
| 7.1.1.9 | cytochrome-c oxidase |
medicine |
hypoxia synergises with NO from neuronal nitric oxide synthase to induce neuronal death via cytochrome oxidase inhibition causing neuronal depolarisation. Neuronal nitric oxide synthase activity sensitises the cells to hypoxic-inhibition of cytochrome oxidase |
| 7.1.1.9 | cytochrome-c oxidase |
medicine |
in HIV-associated dementia, cortical neurons demonstrate decreased respiration upon HIV-1 neurotoxin trans activator of transcription proteint treatment, consistent with inhibition of the enzyme |
| 7.1.1.9 | cytochrome-c oxidase |
medicine |
lack of energy after traumatic brain injury caused by inhibition of CcO may be an important aspect of trauma pathology |
| 7.1.1.9 | cytochrome-c oxidase |
medicine |
low prenatal Cu intake by dams is the determinant of CCO activity in cardiac mitochondria of 21-d-old offspring and may lead to the assembly of a less-than-fully active holoenzyme |
| 7.1.1.9 | cytochrome-c oxidase |
medicine |
myocardial CcOX impairment can underlie CO induced cardiac dysfunction |
| 7.1.1.9 | cytochrome-c oxidase |
medicine |
protein kinase C epsilon is activated by hypoxia, which results in the activation of the mitochondrial protein CytCOx, which can protect the lens from mitochondrial damage under naturally hypoxic conditions observed in this tissue |
| 7.1.1.9 | cytochrome-c oxidase |
medicine |
recovery of enhanced cytochrome-c oxidase activity may play a role in ischemic preconditioning protection |
| 7.1.1.9 | cytochrome-c oxidase |
medicine |
relationship between the allosteric ATP-inhibition and phosphorylation of CcO subunit I, which apparently occurs in living cells, but is lost under stress (e.g. hypoxic stress) |
| 7.1.1.9 | cytochrome-c oxidase |
medicine |
simultaneous decrease in 2-deoxyglucose uptake and increase in COI mRNA expression are difficult to reconcile with the current model of basal ganglia function and suggest that the mechanisms by which high-frequency stimulation of the subthalamic nucleus exerts its clinical benefits are more complex than a simple reversal of abnormal activity in the subthalamic nucleus and its targets |
| 7.1.1.9 | cytochrome-c oxidase |
medicine |
the cholinesterase and monoamine oxidase inhibitor ladostigil may have a beneficial effect on cognitive deficits in Alzheimer's disease patients that have a reduction in cortical COx activity and cholinergic hypofunction |
| 7.1.1.9 | cytochrome-c oxidase |
medicine |
mutations in various mitochondrial enzymes can result in Leigh syndrome, among them cytochrome c oxidase |
| 7.1.1.9 | cytochrome-c oxidase |
medicine |
the copper-enzyme cytochrome c oxidase has been indicated as a primary molecular target of mutant copper, zinc superoxide dismutase in familial amyotrophic lateral sclerosis |
| 7.1.2.2 | H+-transporting two-sector ATPase |
medicine |
ATP hydrolysis by F1FO-ATPase is well preserved after hypoxia/reoxygenation as long as Mg2+ is available, indicating that function of the enzyme is largely intact, but ATP hydrolysis by F1FO-ATPase does not restore mitochondrial membrane potential as much as expected from the rate of ATP utilization, it is likely that uncoupling plays a major role in the mitochondrial dysfunction in proximal tubules during hypoxia/reoxygenation |
| 7.1.2.2 | H+-transporting two-sector ATPase |
medicine |
F0F1 ATP synthase activity transiently increases during nonpreconditioned coronary reactive hyperemia, decreases 4 min after nonpreconditioned coronary reactive hyperemia and returns to control 2 min later, it is lower after ischemic preconditioning and does not change during and after preconditioned coronary reactive hyperemia, postischemic long-lasting inhibition of the enzyme activity may be a feature of the preconditioned heart |
| 7.1.2.2 | H+-transporting two-sector ATPase |
medicine |
when hyperemia is induced before ischemic preconditioning, a steep increase in synthase capacity, followed by a deep decrease can be observed, hyperemia does not affect synthase capacity when applied after ischemic preconditioning, similar effects in vitro by treatment of heart biopsy samples with anoxia, which down-regulates, or high salt or high pH buffers, which up-regulates |
| 7.1.3.1 | H+-exporting diphosphatase |
medicine |
enzyme might serve as effective drug target |
| 7.2.1.1 | NADH:ubiquinone reductase (Na+-transporting) |
medicine |
about 50% of all mitochondrial disorders affecting the energy metabolism can be traced to mutations in complex 1 |
| 7.2.1.1 | NADH:ubiquinone reductase (Na+-transporting) |
medicine |
Vibrio cholerae Na+-NQR is significant for the induction of virulence factors. Thus, this enzyme can be used as a target in the treatment or prevention of many infectious diseases |
| 7.2.2.3 | P-type Na+ transporter |
medicine |
- |
| 7.2.2.3 | P-type Na+ transporter |
medicine |
ATP hydrolysis |
| 7.2.2.3 | P-type Na+ transporter |
medicine |
ATP hydrolysis and synthesis, H+ and Na+ transport |
| 7.2.2.3 | P-type Na+ transporter |
medicine |
ATP synthesis, Na+ pump |
| 7.2.2.3 | P-type Na+ transporter |
medicine |
enzyme is involved in vascular tone regulation |
| 7.2.2.8 | P-type Cu+ transporter |
medicine |
ATP7A protein is markedly downregulated in vessels isolated from high-fat diet-induced or db/db type 2 diabetes mellitus mice. Downregulation of ATP7A in type 2 diabetes mellitus mice vessels is restored by constitutive active Akt or in protein-tyrosine phosphatase 1B-deficient type 2 diabetes mellitus mice. Insulin stimulates Akt2 binding to ATP7A to induce phosphorylation at residues Ser1424/1463/1466. Superoxide dismutase SOD3 activity is reduced in Akt2-/- vessels or vascular smooth muscle cells, which is rescued by ATP7A overexpression |
| 7.2.2.8 | P-type Cu+ transporter |
medicine |
ATP7A protein is markedly downregulated in vessels isolated from type 2 diabetes mellitus patients. Akt2 (protein kinase B beta) activated by insulin promotes ATP7A stabilization via preventing ubiquitination/degradation as well as translocation to plasma membrane in vascular smooth muscle cells |
| 7.2.2.8 | P-type Cu+ transporter |
medicine |
cisplatin-resistant cell sublines show cross-resistance to carboplatin and oxaliplatin. ATP7A expression in cisplatin-resistant cell sublines is much higher than in cisplatin-sensitive cell lines at both mRNA and protein levels. ATP7A-targeted siRNA in cisplatin-resistant cancer cells partially reverses cisplatin-resistance. It also increases cell apoptosis at different cisplatin concentrations |
| 7.2.2.8 | P-type Cu+ transporter |
medicine |
deletion of isoform ATP7A in H-RAS transformed tumorigenic mouse embryonic markedly suppresses tumorigenesis relative to wild type parental cells, associated with hyperaccumulation of copper and sensitivity to reactive oxygen species and hypoxia. Tumor grafts lacking ATP7A are markedly more sensitive to cisplatin chemotherapy compared to ATP7A-expressing control tumors |
| 7.2.2.8 | P-type Cu+ transporter |
medicine |
mutation T994I is located in the sixth transmembrane domain of ATP7A, and is associated with the an adult-onset isolated distal motor neuropathy, and with an abnormal interaction with p97/valosin-containing protein. T994I substitution results in conformational exposure of the UBX domain in the third lumenal loop of ATP7A, which then binds the N-terminal domain of p97/VCP. This abnormal interaction occurs at or near the cell plasma membrane |
| 7.2.2.9 | P-type Cu2+ transporter |
medicine |
the overexpression of ATP7B in hepatocellular carcinoma might be associated with unfavorable clinical outcome in patients treated with cisplantin-based chemotherapy. Analysis of ATP7B expression might be clinically relevant for the choice of therapy |
| 7.2.2.9 | P-type Cu2+ transporter |
medicine |
molecular mechanisms of copper deficiency (Menkes disease) or copper overload (Wilson disease) |
| 7.2.2.9 | P-type Cu2+ transporter |
medicine |
studies on copper deficiency during pregnancy, Menkes and Wilson disease |
| 7.2.2.9 | P-type Cu2+ transporter |
medicine |
studies on diseases of copper deficiency or excess |
| 7.2.2.9 | P-type Cu2+ transporter |
medicine |
studies on pathogenesis and treatment of Menkes disease |
| 7.2.2.9 | P-type Cu2+ transporter |
medicine |
enzyme overexpression might be useful in gene therapy |
| 7.2.2.10 | P-type Ca2+ transporter |
medicine |
isoform SERCA2-mediated Ca2+-regulation decreases in the failing heart, isoform SERCA2a overexpression can potentially reduce arrhythmias and is a therapy for heart failure and cardiac hypertrophy |
| 7.2.2.10 | P-type Ca2+ transporter |
medicine |
isoform SERCA3f may account for the mechanism of endoplasmic reticulum stress in vivo in heart failure |
| 7.2.2.10 | P-type Ca2+ transporter |
medicine |
PMCA4b overexpression significantly reduces cardiac hypertrophy following pressure overload |
| 7.2.2.10 | P-type Ca2+ transporter |
medicine |
SERCA2 expression and activity are decreased in cycstic fibrosis airway epithelium resulting in enhanced susceptibility to oxidants, reduced SERCA2 expression may alter calcium signalling and apoptosis in cystic fibrosis |
| 7.2.2.10 | P-type Ca2+ transporter |
medicine |
plasmalemmal Ca2+ pump isoform 2 mRNA levels are a potential tool in identifying poor responders to therapy in women with basal breast cancer |
| 7.2.2.13 | Na+/K+-exchanging ATPase |
medicine |
analysis of mutations F785L and T618M associated with familial rapid-onset dystonia parkinsonism |
| 7.2.2.13 | Na+/K+-exchanging ATPase |
medicine |
in induced hyperthyroidism, Na+K+-ATPase activity is significantly decreased, whereas acetylcholinesterase activity is increased in the hippocampus. Na+K+-ATPase activity of the frontal cortex remains unchanged in hyperthyroidism. In hypothyroid rat, Na+K+-ATPase activity is significanlty decreased in both the frontal cortex and the hippocampus, whereas acetylcholinesterase activity is decreased in the frontal cortex and increased in the hippocampus. Mg2+-ATPase activity remains unchanged in both hyper- and hypothyroid rat brain |
| 7.2.2.13 | Na+/K+-exchanging ATPase |
medicine |
neonatal hypothyroidism results in a generalized decrease in Vmax with ATP, Na+, K+ and Mg2+ together with an increase in the Km value for ATP, appearance of a low affinity component for Na+ and allosteric characteristic for the Mg2+-dependent activity at high concentrations of Mg2+ |
| 7.2.2.13 | Na+/K+-exchanging ATPase |
medicine |
study on enzyme isoforms in muscle in three consecutive days of exercise followed by 3 days of recovery. Increases in subunit isoforms alpha1, alpha2, alpha3 by 46%, 42%, and 31% are observed at recovery day 1, respectively. Subunit isoforms beta1 and beta2 increase by 19% and 28% at recovery day 1, whereas isoform beta3 increase by 18% at recovery day 2. with exception of isoforms alpha 2 and alpha 3, the increases persisted at recovery day 3. The increases in subunit expression are not accompanied by increases in the maximal catalytic activity |
| 7.2.2.13 | Na+/K+-exchanging ATPase |
medicine |
the positive inotropic effect produced by Na+/K+-ATPase inhibition is used for the treatment of heart failure |
| 7.2.2.13 | Na+/K+-exchanging ATPase |
medicine |
in the aging kidney, quantitative changes in axial distribution of Na+-K+-ATPase occur at the level of gene expression, protein abundance, and activity in the nephrons. The animals maintain Na/K balance, however with a steady state elevated serum K+ |
| 7.2.2.14 | P-type Mg2+ transporter |
medicine |
Mg2+ transport |
| 7.2.2.19 | H+/K+-exchanging ATPase |
medicine |
nongastric H-K-ATPase is required for acidification of luminal prostate fluids, operates as a proton pump, beta1 is an authentic subunit of nongastric H-K-ATPase in vivo, apical localization of beta1 in the prostate is completely dependent on its association with the enzyme alpha-subunit |
| 7.4.2.1 | ABC-type polar-amino-acid transporter |
medicine |
identification of genus-specific motifs in amino acid permeases, which might be useful to better understand parasite physiology within its hosts, close relationship between the Leishmania donovani and Trypanosma brucei amino acid permeases |
| 7.4.2.1 | ABC-type polar-amino-acid transporter |
medicine |
the enzyme is used as a target for Leishmania identification and diagnosis of leishmaniases |
| 7.4.2.3 | mitochondrial protein-transporting ATPase |
medicine |
import of the enteropathogenic Escherichia coli effector protein Map into mitochondria, which alters organelle morphology, is dependent on mtHsp70 |
| 7.4.2.3 | mitochondrial protein-transporting ATPase |
medicine |
in vivo binding of mortalin/mtHsp70 with HSP60, involvment in tumorigenesis, functional distinction in pathways involved in senescence |
| 7.4.2.3 | mitochondrial protein-transporting ATPase |
medicine |
mtHsp70 forms complexes with wild-type DJ-1 and its mutants, DJ-1 is an oncogene and causative gene for familial form of the Parkinson's disease, translocation of DJ-1 to mitochondria after oxidative stress is carried out in association with chaperones like mtHsp70 |
| 7.4.2.8 | protein-secreting ATPase |
medicine |
pilD-dependent mechanism for promoting Legionella pneumophila intracellular infection of human cells |
| 7.6.2.1 | P-type phospholipid transporter |
medicine |
The enzyme gene is an interesting candidate for chromosome 15-associted autism and it can contribute to the Angelman syndrome phenotype. |
| 7.6.2.1 | P-type phospholipid transporter |
medicine |
ATP8B1 deficiency leads to reduced PS flipping and impaired farnesoid X receptor signaling via impaired PKCgamma-mediated nuclear translocation of farnesoid X receptor, resulting in reduced bile salt export pump and enhanced apical sodium-dependent bile salt transporter activation |
| 7.6.2.1 | P-type phospholipid transporter |
medicine |
some ATP8B1 mutants found in patients of progressive familial intrahepatic cholestasis type 1 (PFIC1), a severe liver disease caused by impaired bile flow, fail to translocate phosphatidylcholine despite their delivery to the plasma membrane. Incorporation of phosphatidylcholine mediated by ATP8B1 can be reversed by simultaneous expression of ABCB4, a phosphatidylcholine floppase mutated in PFIC3 patients |
| 7.6.2.1 | P-type phospholipid transporter |
medicine |
spontaneous loss of lipid asymmetry, not corrected by aminophospholipid translocase activity, is the mechanism for ribavirin-induced phosphatidylserine exposure that may contribute to ribavirin-induced anemia |
| 7.6.2.2 | ABC-type xenobiotic transporter |
medicine |
ATP-driven pumping of a variety of drugs out of cells by P-glycoprotein poses a serious problem to medical therapy |
| 7.6.2.2 | ABC-type xenobiotic transporter |
medicine |
MRP1 confers resistance to a wide variety of anticancer drugs |
| 7.6.2.2 | ABC-type xenobiotic transporter |
medicine |
Pgp plays a central role in compromising cancer chemotherapy and in modulating the bioavailability and distribution of therapeutic agents |
| 7.6.2.2 | ABC-type xenobiotic transporter |
medicine |
specific inhibitors of MRP4 can be a valuable asset for enhancing the brain penetration and therapeutic efficacy of adefovir and tenofovir |
| 7.6.2.2 | ABC-type xenobiotic transporter |
medicine |
development of a method for predicting the risk of drug-drug interactions involving inhibition of P-glycoprotein |
| 7.6.2.2 | ABC-type xenobiotic transporter |
medicine |
lovastatin increases the absorption of verapamil (used as an antiarrhythmic agent to control supraventricular tachyarrhythmias) by inhibiting P-glycoprotein |
| 7.6.2.2 | ABC-type xenobiotic transporter |
medicine |
procyanidine is a potent inhibitor of P-glycoprotein on blood-brain barrier and can improve the therapeutic effects on cerebral tumors of some drugs which are difficult to accumulate in the brain |
| 7.6.2.2 | ABC-type xenobiotic transporter |
medicine |
rosemary phytochemicals, such as carnosic acid, have inhibitory effects on anticancer drug efflux transporter P-glycoprotein and may become useful to enhance the efficacy of cancer chemotherapy |
| 7.6.2.2 | ABC-type xenobiotic transporter |
medicine |
the direct inhibitory effects of indomethacin and SC236 on P-gp may contribute to their ability to increase the intracellular retention of doxorubicin and thus enhance its cytotoxicity. The combination of indomethacin or SC236 with doxorubicin may have significant potential clinical application, especially in the circumvention of P-gp-mediated multidrug resistance in cancer cells |
| 7.6.2.2 | ABC-type xenobiotic transporter |
medicine |
the human multidrug resistance transporter P-glycoprotein (P-gp) prevents the entry of compounds into the brain by an active efflux mechanism at the blood-brain barrier. In treatment of neurodegenerative diseases the development of new reversible inhibitors of P-gp is pertinent to overcome this problem. Design and synthesis of a crosslinked agent based on the Alzheimers disease treatment galantamine (Gal-2, bis[(4aS,6R,8aS)-3-methoxy-11-methyl-5,6,9,10,11,12-hexahydro-4aH-[1]benzofuro[3a,3,2-ef][2]benzazepin-6-yl] decanedioate) that inhibits P-gp-mediated efflux from cultured cells. Gal-2 inhibits the efflux of the fluorescent P-gp substrate rhodamine 123 in cancer cells that over-express P-gp. It inhibits the efflux of therapeutic substrates of P-gp, such as doxorubicin, daunomycin and verapamil. Potential role of Gal-2, as inhibitors of P-gp at the blood-brain barrier to augment treatment of neurodegenerative diseases |
| 7.6.2.2 | ABC-type xenobiotic transporter |
medicine |
the presence of P-gp in various drug-resistant cancer cells can cause failure in chemotherapy, as it is able to transport a variety of anticancer drugs out of the cell |
| 7.6.2.4 | ABC-type fatty-acyl-CoA transporter |
medicine |
a correction of the biochemical defect of X-linked adrenoleukodystrophy could be possible by drug-induced overexpression or ectopic expression of adrenoleukodystrophy-related protein |
| 7.6.2.4 | ABC-type fatty-acyl-CoA transporter |
medicine |
mutations in the gene encoding ALDP result in a devasting neurodegenerative disorder, X-linked adrenoleukodystrophy, X-ALD |
| 7.6.2.4 | ABC-type fatty-acyl-CoA transporter |
medicine |
the finding that PMP70 over-expression partially corrected very long-chain fatty acid oxidation defects in fibroblasts of X-linked adrenoleukodystrophy patients, has unveiled its potential clinical relevance |
