AMPD1

Summary

Gene Symbol: AMPD1
Description: adenosine monophosphate deaminase 1
Alias: MAD, MADA, MMDD, AMP deaminase 1, AMPD, adenosine monophosphate deaminase 1 (isoform M), adenosine monophosphate deaminase-1 (muscle), myoadenylate deaminase, skeletal muscle AMPD
Species: human
Products:     AMPD1

Top Publications

  1. Morisaki T, Gross M, Morisaki H, Pongratz D, Zollner N, Holmes E. Molecular basis of AMP deaminase deficiency in skeletal muscle. Proc Natl Acad Sci U S A. 1992;89:6457-61 pubmed
    AMP deaminase (AMPD; EC 3.5.4.6) is encoded by a multigene family in mammals. The AMPD1 gene is expressed at high levels in skeletal muscle, where this enzyme is thought to play an important role in energy metabolism...
  2. Goodarzi M, Taylor K, Guo X, Quiñones M, Cui J, Li X, et al. Variation in the gene for muscle-specific AMP deaminase is associated with insulin clearance, a highly heritable trait. Diabetes. 2005;54:1222-7 pubmed
    ..We tested the candidate gene AMP deaminase 1 (AMPD1) for association with insulin-related traits because it codes for an enzyme that has the potential to ..
  3. Toyama K, Morisaki H, Kitamura Y, Gross M, Tamura T, Nakahori Y, et al. Haplotype analysis of human AMPD1 gene: origin of common mutant allele. J Med Genet. 2004;41:e74 pubmed
  4. Yazaki Y, Muhlestein J, Carlquist J, Bair T, Horne B, Renlund D, et al. A common variant of the AMPD1 gene predicts improved survival in patients with ischemic left ventricular dysfunction. J Card Fail. 2004;10:316-20 pubmed
    ..In the ischemic patient subgroup (n=210) multivariate analysis identified AMPD1 T allele carriage (hazard ratio=0.43, confidence interval=0.20-0.94, P=...
  5. de Groote P, Lamblin N, Helbecque N, Mouquet F, Hermant X, Amouyel P, et al. The impact of the AMPD1 gene polymorphism on exercise capacity, other prognostic parameters, and survival in patients with stable congestive heart failure: a study in 686 consecutive patients. Am Heart J. 2006;152:736-41 pubmed
    Previous studies have demonstrated that the adenosine monophosphate deaminase 1 (AMPD1) C34T polymorphism may be associated with survival in cardiac populations with a protective effect of the T allele...
  6. Fischer H, Esbjörnsson M, Sabina R, Stromberg A, Peyrard Janvid M, Norman B. AMP deaminase deficiency is associated with lower sprint cycling performance in healthy subjects. J Appl Physiol (1985). 2007;103:315-22 pubmed
    ..performance during a 30-s Wingate test in 139 healthy, physically active subjects of both sexes, with different AMPD1 genotypes, including 12 AMPD-deficient subjects...
  7. Agewall S, Norman B. Association between AMPD1 gene polymorphism and coagulation factors in patients with coronary heart disease. Pathophysiol Haemost Thromb. 2006;35:440-4 pubmed
    ..of this study was to investigate whether the C34T and G468T variations in the adenosine monophosphate deaminase-1 (AMPD1) gene were associated with intima-media thickness of the carotid and brachial artery, endothelial function of the ..
  8. Taegtmeyer A, Breen J, Rogers P, Johnson P, Smith J, Smolenski R, et al. Effect of adenosine monophosphate deaminase-1 C34T allele on the requirement for donor inotropic support and on the incidence of early graft dysfunction after cardiac transplantation. Am J Cardiol. 2009;103:1457-62 pubmed publisher
    The C34T T allele of the adenosine monophosphate deaminase-1 (AMPD1) gene has been associated with improved outcome in patients with cardiac dysfunction...
  9. Sabina R, Morisaki T, Clarke P, Eddy R, Shows T, Morton C, et al. Characterization of the human and rat myoadenylate deaminase genes. J Biol Chem. 1990;265:9423-33 pubmed
    ..In situ hybridization and analysis of human-mouse somatic cell hybrids have localized the human gene (designated AMPD1) to chromosome 1 in the region p13-p21...

More Information

Publications108 found, 100 shown here

  1. Morisaki H, Higuchi I, Abe M, Osame M, Morisaki T. First missense mutations (R388W and R425H) of AMPD1 accompanied with myopathy found in a Japanese patient. Hum Mutat. 2000;16:467-72 pubmed
    ..Although a diagnosis of AMPD1 deficiency is indeed based on the reduced enzymatic activity, its clinical significance is still rather ..
  2. Yuen A, Yacoub M, Birks E, Kalsi K, Johnson P, Smolenski R. Association of improved cardiac function in donors with C34T mutation of the AMP deaminase 1 gene. Nucleosides Nucleotides Nucleic Acids. 2005;24:275-7 pubmed
    Possession of the C34T mutation in AMP deaminase (AMPD1) gene has been shown to be associated with attenuation of the progression of heart failure and improved survival in ischemic heart disease...
  3. Kalsi K, Yuen A, Johnson P, Birks E, Yacoub M, Smolenski R. AMPD1 C34T mutation selectively affects AMP-deaminase activity in the human heart. Nucleosides Nucleotides Nucleic Acids. 2005;24:287-8 pubmed
    ..This mutation is known to decrease the activity of AMP-deaminase in skeletal muscle. We have found that the AMPD1 mutation decreases the activity of AMP-deaminase in the heart without changing the activity of any other enzymes ..
  4. Kolek M, Carlquist J, Thaneemit Chen S, Lazzeroni L, Whiting B, Horne B, et al. The role of a common adenosine monophosphate deaminase (AMPD)-1 polymorphism in outcomes of ischemic and nonischemic heart failure. J Card Fail. 2005;11:677-83 pubmed
    ..We hypothesized that AMPD1 carriers with ischemic heart failure (HF) in the Beta-Blocker Evaluation of Survival Trial (BEST) might have a ..
  5. Safranow K, Czyzycka E, Binczak Kuleta A, Rzeuski R, Skowronek J, Wojtarowicz A, et al. Association of C34T AMPD1 gene polymorphism with features of metabolic syndrome in patients with coronary artery disease or heart failure. Scand J Clin Lab Invest. 2009;69:102-12 pubmed publisher
    The common C34T polymorphism in the AMP deaminase-1 (AMPD1) gene results in an inactive enzyme in homozygotes for the mutated T allele...
  6. Safranow K, Suchy J, Jakubowska K, Olszewska M, Binczak Kuleta A, Kurzawski G, et al. AMPD1 gene mutations are associated with obesity and diabetes in Polish patients with cardiovascular diseases. J Appl Genet. 2011;52:67-76 pubmed publisher
    ..an association of the common functional polymorphism (C34T, Gln12Stop) in the adenosine monophosphate deaminase-1 (AMPD1) gene with survival in heart failure (HF) and/or coronary artery disease (CAD)...
  7. Gross M, Rötzer E, Kolle P, Mortier W, Reichmann H, Goebel H, et al. A G468-T AMPD1 mutant allele contributes to the high incidence of myoadenylate deaminase deficiency in the Caucasian population. Neuromuscul Disord. 2002;12:558-65 pubmed
    b>Myoadenylate deaminase deficiency is the most common metabolic disorder of skeletal muscle in the Caucasian population, affecting approximately 2% of all individuals...
  8. Yacoub M, Yuen A, Kalsi K, Birks E, Taegtmeyer A, Barton P, et al. C34T AMP deaminase 1 gene mutation protects cardiac function in donors. Transplantation. 2004;77:1621-3 pubmed
    ..We tested the hypothesis that possession of the C34T nonsense mutation in AMPD1 gene, which is known to improve survival in chronic heart failure, protects against cardiac dysfunction in donors...
  9. Andreassi M, Botto N, Laghi Pasini F, Manfredi S, Ghelarducci B, Farneti A, et al. AMPD1 (C34T) polymorphism and clinical outcomes in patients undergoing myocardial revascularization. Int J Cardiol. 2005;101:191-5 pubmed
    C34T variant of adenosine monophosphate deaminase 1 (AMPD1) gene has been associated with a prolonged survival in heart failure and coronary artery disease, hypothetically linked to an enhanced production of adenosine...
  10. Collins R, Palmer B, Pilbrow A, Frampton C, Troughton R, Yandle T, et al. Evaluation of AMPD1 C34T genotype as a predictor of mortality in heart failure and post-myocardial infarction patients. Am Heart J. 2006;152:312-20 pubmed
    The AMPD1 gene C34T polymorphism has previously been associated with prolonged survival in small cohorts of heart failure (HF) and coronary artery disease patients...
  11. Hanisch F, Joshi P, Zierz S. AMP deaminase deficiency in skeletal muscle is unlikely to be of clinical relevance. J Neurol. 2008;255:318-22 pubmed publisher
    ..encoding the muscle-specific isoform of AMP deaminase (AMPD) accounts for the vast majority of inherited skeletal muscle AMPD deficiencies...
  12. Loh E, Rebbeck T, Mahoney P, DeNofrio D, Swain J, Holmes E. Common variant in AMPD1 gene predicts improved clinical outcome in patients with heart failure. Circulation. 1999;99:1422-5 pubmed
    ..The adenosine monophosphate deaminase locus (AMPD1) was selected for study...
  13. Anderson J, Habashi J, Carlquist J, Muhlestein J, Horne B, Bair T, et al. A common variant of the AMPD1 gene predicts improved cardiovascular survival in patients with coronary artery disease. J Am Coll Cardiol. 2000;36:1248-52 pubmed
    We tested whether a common AMPD1 gene variant is associated with improved cardiovascular (CV) survival in patients with coronary artery disease (CAD)...
  14. Gastmann A, Sigusch H, Henke A, Reinhardt D, Surber R, Gastmann O, et al. Role of adenosine monophosphate deaminase-1 gene polymorphism in patients with congestive heart failure (influence on tumor necrosis factor-alpha level and outcome). Am J Cardiol. 2004;93:1260-4 pubmed
    The Cytosin-->thymidin transition at codon 12 of the adenosine monophosphate deaminase-1 (AMPD1) gene results in a complete loss of its catalytic activity...
  15. Ronca F, Raggi A. Role of the HPRG Component of Striated Muscle AMP Deaminase in the Stability and Cellular Behaviour of the Enzyme. Biomolecules. 2018;8: pubmed publisher
    ..glycoprotein (HPRG) participates in the assembly and maintenance of skeletal muscle AMP deaminase (AMPD1) by acting as a zinc chaperone...
  16. Mattii L, Rossi L, Ippolito C, Ali G, Martini D, Raggi A, et al. Immunohistochemical localization of histidine-rich glycoprotein in human skeletal muscle: preferential distribution of the protein at the sarcomeric I-band. Histochem Cell Biol. 2017;148:651-657 pubmed publisher
    ..The HRG localization was also compared with that of skeletal muscle AMP deaminase (AMPD1), since we have previously described an association of the enzyme with the protein...
  17. Laval K, Vernejoul J, Van Cleemput J, Koyuncu O, Enquist L. Virulent Pseudorabies Virus Infection Induces a Specific and Lethal Systemic Inflammatory Response in Mice. J Virol. 2018;92: pubmed publisher
    ..In these nonnatural hosts, PRV always causes a severe acute and lethal neuropathy called the "mad itch," which is uncommon in swine...
  18. McLachlan D, Bergeron C, Alexandrov P, Walsh W, Pogue A, Percy M, et al. Aluminum in Neurological and Neurodegenerative Disease. Mol Neurobiol. 2019;56:1531-1538 pubmed publisher
    ..disease (PD; N = 27), and prion disease (PrD; N = 11) that included bovine spongiform encephalopathy (BSE; "mad cow disease"), Creutzfeldt-Jakob disease (CJD) and Gerstmann-Straussler-Sheinker syndrome (GSS), progressive ..
  19. Wu Y, Chang H, Huang H, Sheng J, Leung P. Bone morphogenetic protein 2 regulates cell-cell communication by down-regulating connexin43 expression in luteinized human granulosa cells. Mol Hum Reprod. 2017;23:155-165 pubmed publisher
    ..cells by down-regulating Cx43 expression through an activin receptor-like kinase (ALK)2/ALK3-mediated Sma- and Mad-related protein (SMAD)-dependent signaling pathway...
  20. Dasgupta S, Rajapakshe K, Zhu B, Nikolai B, Yi P, Putluri N, et al. Metabolic enzyme PFKFB4 activates transcriptional coactivator SRC-3 to drive breast cancer. Nature. 2018;556:249-254 pubmed publisher
    ..In addition, the two enzymes adenosine monophosphate deaminase-1 (AMPD1) and xanthine dehydrogenase (XDH), which are involved in purine metabolism, were identified as SRC-3 targets that ..
  21. Mondal B, Patil V, Shwetha S, Sravani K, Hegde A, Arivazhagan A, et al. Integrative functional genomic analysis identifies epigenetically regulated fibromodulin as an essential gene for glioma cell migration. Oncogene. 2017;36:71-83 pubmed publisher
    ..and gain of active histone marks with a simultaneous loss of DNMT3A and EZH2 occupancy, but enrichment of Sma- and Mad-related protein-2 (SMAD2) and CBP...
  22. Xu Z, Ramachandran S, Gunasekaran M, Zhou F, Trulock E, Kreisel D, et al. MicroRNA-144 dysregulates the transforming growth factor-β signaling cascade and contributes to the development of bronchiolitis obliterans syndrome after human lung transplantation. J Heart Lung Transplant. 2015;34:1154-62 pubmed publisher
    ..of miR-144 was evaluated by transfecting fibroblasts and determining the response to TGF-β by analyzing Sma- and Mad-related family (Smads), fibroblast growth factor, TGF-β, and vascular endothelial growth factor...
  23. Xu J, Feng Z, Peng H, Fu P. Omega-3 polyunsaturated fatty acids alleviate adenine-induced chronic renal failure via regulating ROS production and TGF-?/SMAD pathway. Eur Rev Med Pharmacol Sci. 2018;22:5024-5032 pubmed publisher
    ..Besides, MAD content and ROS production were lower in ?-3 PUFAs group than those of adenine group...
  24. Hennis P, O Doherty A, Levett D, Grocott M, Montgomery H. Genetic factors associated with exercise performance in atmospheric hypoxia. Sports Med. 2015;45:745-61 pubmed publisher
    ..The adenosine monophosphate deaminase (AMPD1) C34T (rs17602729), beta2-adrenergic receptor (ADRB2) Gly16Arg single nucleotide polymorphism (SNP) (rs1042713), ..
  25. Zhao K, Wen L. DMF attenuates cisplatin-induced kidney injury via activating Nrf2 signaling pathway and inhibiting NF-kB signaling pathway. Eur Rev Med Pharmacol Sci. 2018;22:8924-8931 pubmed publisher
    ..Higher activities of SOD, GSH, CAT and T-AOC were found in DMF group compared with those of DDP group. However, MAD and ROS contents were remarkably decreased in DMF group than those of DDP group...
  26. Chen Y, Chang H, Cheng J, Tsai H, Wu C, Leung P. Transforming growth factor-β1 up-regulates connexin43 expression in human granulosa cells. Hum Reprod. 2015;30:2190-201 pubmed publisher
    ..in human granulosa cells, and this effect occurs via the activin receptor-like kinase (ALK)5-mediated Sma- and Mad-related protein (SMAD)2/3-SMAD4-dependent pathway...
  27. Shimabukuro J, Makyio H, Suzuki T, Nishikawa Y, Kawasaki M, Imamura A, et al. Synthesis of seleno-fucose compounds and their application to the X-ray structural determination of carbohydrate-lectin complexes using single/multi-wavelength anomalous dispersion phasing. Bioorg Med Chem. 2017;25:1132-1142 pubmed publisher
    ..structural determination of a carbohydrate-lectin complex using single/multi-wavelength anomalous dispersion (SAD/MAD) phasing...
  28. Iftikhar I, Bittencourt L, Youngstedt S, Ayas N, Cistulli P, Schwab R, et al. Comparative efficacy of CPAP, MADs, exercise-training, and dietary weight loss for sleep apnea: a network meta-analysis. Sleep Med. 2017;30:7-14 pubmed publisher
    ..studies on the relative efficacies of continuous positive airway pressure (CPAP), mandibular advancement device (MAD), supervised aerobic exercise training, and dietary weight loss in patients with obstructive sleep apnea (OSA)...
  29. Ozsoy U, Sekerci R, Oğüt E. Effect of sitting, standing, and supine body positions on facial soft tissue: detailed 3D analysis. Int J Oral Maxillofac Surg. 2015;44:1309-16 pubmed publisher
    ..Differences in the positions were compared using the root mean square (RMS), mean absolute deviation (MAD), and mean signed distance (MSD). The displacement of 15 midsagittal and 20 bilateral landmarks was evaluated...
  30. Cheng W, Kumar J, Zhang Y, Liu Y. pH- and redox-responsive self-assembly of amphiphilic hyperbranched poly(amido amine)s for controlled doxorubicin delivery. Biomater Sci. 2015;3:597-607 pubmed publisher
    ..Then an amphiphilic hyperbranched poly(BAC2-AMPD1)-PEG is produced via converting the vinyl groups to amines followed by PEGylation...
  31. Dakic A, DiVito K, Fang S, Suprynowicz F, Gaur A, Li X, et al. ROCK inhibitor reduces Myc-induced apoptosis and mediates immortalization of human keratinocytes. Oncotarget. 2016;7:66740-66753 pubmed publisher
    The Myc/Max/Mad network plays a critical role in cell proliferation, differentiation and apoptosis and c-Myc is overexpressed in many cancers, including HPV-positive cervical cancer cell lines...
  32. Jiang W, Zhao W, Chen H, Wu Y, Wang Y, Fu G, et al. Baicalin protects H9c2 cardiomyocytes against hypoxia/reoxygenation-induced apoptosis and oxidative stress through activation of mitochondrial aldehyde dehydrogenase 2. Clin Exp Pharmacol Physiol. 2018;45:303-311 pubmed publisher
    ..In addition, baicalin reversed H/R-induced oxidative stress as evidenced by the downregulation of malondialdehyde (MAD) and 4-hydroxy aldehydes (4-HNE) levels, the inhibition of endogenous reactive oxygen species (ROS) generation, and ..
  33. Mahnke Zizelman D, Sabina R. N-terminal sequence and distal histidine residues are responsible for pH-regulated cytoplasmic membrane binding of human AMP deaminase isoform E. J Biol Chem. 2002;277:42654-62 pubmed
    ..Finally, AMPD1 and a series of N-truncated AMPD3 enzymes are used to show that these behaviors are specific to isoform E and ..
  34. Newton F, Harris R, Sutcliffe C, Ashe H. Coordinate post-transcriptional repression of Dpp-dependent transcription factors attenuates signal range during development. Development. 2015;142:3362-73 pubmed publisher
    ..and Pumilio (Pum)-mediated post-transcriptional repression of mRNAs, including that encoding the Dpp transducer, Mad. However, the identity of other repressed mRNAs and the mechanism of post-transcriptional repression are currently ..
  35. Weiss K. At a Loss for Words: Nosological Impotence in the Search for Justice. J Am Acad Psychiatry Law. 2016;44:36-40 pubmed
    ..Anders Breivik, including disparate opinions about his sanity, raise questions about distinguishing "bad" from "mad." Although he was ultimately found criminally responsible, the tenacity and pervasiveness of his beliefs suggested ..
  36. Menegassi S, Pereira G, Bremm C, Koetz C, Lopes F, Fiorentini E, et al. Effects of ambient air temperature, humidity, and wind speed on seminal traits in Braford and Nellore bulls at the Brazilian Pantanal. Int J Biometeorol. 2016;60:1787-1794 pubmed
    ..Nellore bulls had lower major defects (MaD) and total defects (TD) compared to Braford...
  37. Bevacqua R, Fernandez Martin R, Savy V, Canel N, Gismondi M, Kues W, et al. Efficient edition of the bovine PRNP prion gene in somatic cells and IVF embryos using the CRISPR/Cas9 system. Theriogenology. 2016;86:1886-1896.e1 pubmed publisher
    ..system was used with the aim of inducing knockout and knock-in alleles of the bovine PRNP gene, responsible for mad cow disease, both in bovine fetal fibroblasts and in IVF embryos...
  38. Gao Y, Li C, Chen B, Shen Y, Han J, Zhao M. Anti-hyperlipidemia and antioxidant activities of Amygdalus pedunculata seed oil. Food Funct. 2016;7:5018-5024 pubmed
    ..as lowered the levels of alanine aminotransferase (ALT), aspartate aminotransferase (AST), and malondialdehyde (MAD) in the liver of d-gal-injected mice...
  39. Baeßler B, Treutlein M, Schaarschmidt F, Stehning C, Schnackenburg B, Michels G, et al. A novel multiparametric imaging approach to acute myocarditis using T2-mapping and CMR feature tracking. J Cardiovasc Magn Reson. 2017;19:71 pubmed publisher
    ..Afterwards, the parameters maxT2 (the highest segmental T2 value) and madSD (the mean absolute deviation (MAD) of the pixel-SDs) were calculated for each subject...
  40. Glos M, Penzel T, Schoebel C, Nitzsche G, Zimmermann S, Rudolph C, et al. Comparison of effects of OSA treatment by MAD and by CPAP on cardiac autonomic function during daytime. Sleep Breath. 2016;20:635-46 pubmed publisher
    The present study compared the effects of mandibular advancement therapy (MAD) with continuous positive airway pressure therapy (CPAP) on daytime cardiac autonomic modulation in a wide range of obstructive sleep apnea (OSA) patients ..
  41. Zhang L, Du X, Wei S, Li D, Li Q. A comprehensive transcriptomic view on the role of SMAD4 gene by RNAi-mediated knockdown in porcine follicular granulosa cells. Reproduction. 2016;152:81-9 pubmed publisher
    ..TGF-?) signaling pathway, which plays a pivotal role in regulating mammalian reproductive performance, Sma- and Mad-related protein 4 (SMAD4) is closely associated with the development of ovarian follicular...
  42. Albrecht D, Ellis D, CANAFAX D, Combs D, DRUZGALA P, Milner P, et al. Pharmacokinetics and pharmacodynamics of tecarfarin, a novel vitamin K antagonist oral anticoagulant. Thromb Haemost. 2017;117:706-717 pubmed publisher
    ..PD), and safety of tecarfarin, we performed single ascending dose (SAD) (n=66), multiple ascending dose (MAD) (n=43), and tecarfarin versus warfarin (n=28) studies in human volunteers...
  43. Sikela J, Searles Quick V. Genomic trade-offs: are autism and schizophrenia the steep price of the human brain?. Hum Genet. 2018;137:1-13 pubmed publisher
    ..to the rapid expansion of the human brain, a view that has been expressed as "the same 'genes' that drive us mad have made us human"...
  44. Mondal T, Rouch D, Thurbon N, Smith S, Deighton M. Factors affecting decay of Salmonella Birkenhead and coliphage MS2 during mesophilic anaerobic digestion and air drying of sewage sludge. J Water Health. 2015;13:459-72 pubmed publisher
    ..as representatives of bacterial and viral pathogens, respectively, during mesophilic anaerobic digestion (MAD) and air drying treatment of anaerobically digested sewage sludge were investigated. Controlled concentrations of S...
  45. Kar S, Mitra S, Banerjee E. Isolation and Culture of Embryonic Stem Cells, Mesenchymal Stem Cells, and Dendritic Cells from Humans and Mice. Methods Mol Biol. 2016;1516:145-152 pubmed publisher
    ..murine bone marrow derived mesenchymal stem cells (mBM-MSCs), murine adipose tissue derived mesenchymal stem cells (mAD-MSCs), and murine bone marrow derived dendritic cells (mBMDCs)...
  46. Pitchai G, Hickson I, Streicher W, Montoya G, Mesa P. Characterization of the NTPR and BD1 interacting domains of the human PICH-BEND3 complex. Acta Crystallogr F Struct Biol Commun. 2016;72:646-51 pubmed publisher
    ..28, c = 431.58?Å and with one heterodimer in the asymmetric unit. A complete multiwavelength anomalous dispersion (MAD) data set extending to 2...
  47. Schwartz M, Acosta L, Hung Y, Padilla M, Enciso R. Effects of CPAP and mandibular advancement device treatment in obstructive sleep apnea patients: a systematic review and meta-analysis. Sleep Breath. 2018;22:555-568 pubmed publisher
    ..comparing the effects of continuous positive airway pressure (CPAP) with a mandibular advancement device (MAD) in improving the quality of life (sleepiness, cognitive, and functional outcomes) in patients diagnosed with ..
  48. Ayyaz A, Li H, Jasper H. Haemocytes control stem cell activity in the Drosophila intestine. Nat Cell Biol. 2015;17:736-48 pubmed publisher
    ..Thickveins, a second type I receptor that has previously been shown to re-establish ISC quiescence by activating MAD. The interaction between haemocytes and ISCs promotes infection resistance, but also contributes to the development ..
  49. Ahola S, Auranen M, Isohanni P, Niemisalo S, Urho N, Buzková J, et al. Modified Atkins diet induces subacute selective ragged-red-fiber lysis in mitochondrial myopathy patients. EMBO Mol Med. 2016;8:1234-1247 pubmed publisher
    ..We asked in this pilot study what effects high-fat, low-carbohydrate "modified Atkins" diet (mAD) had for PEO/MM patients and control subjects and followed up the effects by clinical, morphological, ..
  50. West E, Krychman M. Natural Aphrodisiacs-A Review of Selected Sexual Enhancers. Sex Med Rev. 2015;3:279-288 pubmed publisher
    ..Research has demonstrated that the risks of yohimbine, Spanish fly, mad honey, and Bufo toad may outweigh any benefit, and these products should be avoided...
  51. Aarab G, Nikolopoulou M, Ahlberg J, Heymans M, Hamburger H, de Lange J, et al. Oral appliance therapy versus nasal continuous positive airway pressure in obstructive sleep apnea: a randomized, placebo-controlled trial on psychological distress. Clin Oral Investig. 2017;21:2371-2378 pubmed publisher
    ..placebo-controlled trail was to compare the effects of an objectively titrated mandibular advancement device (MAD) with those of nasal continuous positive airway pressure (nCPAP) and an intraoral placebo device on symptoms of ..
  52. Hey J, Yu J, Versavel M, Abushakra S, Kocis P, Power A, et al. Clinical Pharmacokinetics and Safety of ALZ-801, a Novel Prodrug of Tramiprosate in Development for the Treatment of Alzheimer's Disease. Clin Pharmacokinet. 2018;57:315-333 pubmed publisher
    ..and elderly volunteers included [1] a single ascending dose (SAD) study; [2] a 14-day multiple ascending dose (MAD) study; and [3] a single-dose tablet food-effect study...
  53. Norman B, Nygren A, Nowak J, Sabina R. The effect of AMPD1 genotype on blood flow response to sprint exercise. Eur J Appl Physiol. 2008;103:173-80 pubmed publisher
    Inherited deficiency of skeletal muscle myoadenylate deaminase (mAMPD) is a genetic disorder characterized primarily by a 34C>T transition in exon 2 of the AMPD1 gene...
  54. Saab R, Zouk A, Mastouri R, Skaar T, Philips S, Kreutz R. AMPD1 polymorphism and response to regadenoson. Pharmacogenomics. 2015;16:1807-15 pubmed publisher
    b>AMPD1 c.34C > T (rs17602729) polymorphism results in AMPD1 deficiency. We examined the association of AMPD1 deficiency and variability of hemodynamic response to regadenoson. Genotyping for c...
  55. Attali V, Chaumereuil C, Arnulf I, Golmard J, Tordjman F, Morin L, et al. Predictors of long-term effectiveness to mandibular repositioning device treatment in obstructive sleep apnea patients after 1000 days. Sleep Med. 2016;27-28:107-114 pubmed publisher
    ..Short-term control of OSA by MAD was predictive of long-term efficiency...
  56. Wang X, Liu M, Zhang C, Li S, Yang Q, Zhang J, et al. Antioxidant Activity and Protective Effects of Enzyme-Extracted Oudemansiella radiata Polysaccharides on Alcohol-Induced Liver Injury. Molecules. 2018;23: pubmed publisher
    ..impairment induced by alcohol consumption, including reactive oxygen species (ROS) generation, malondialdehyde (MAD), and lipid peroxide (LPO) elevation; and superoxide dismutase (SOD), GSH peroxide (GSH-Px), catalase (CAT), and ..
  57. Sims B, Powers R, Sabina R, Theibert A. Elevated adenosine monophosphate deaminase activity in Alzheimer's disease brain. Neurobiol Aging. 1998;19:385-91 pubmed
    ..Similar increases in AMP deaminase protein and mRNA levels are observed in Alzheimer's disease brain. These results suggest that increased AMP deaminase activity may augment ammonia levels in the brain in Alzheimer's disease. ..
  58. Bochicchio G, Hipszer B, Magee M, Bergenstal R, Furnary A, Gulino A, et al. Multicenter Observational Study of the First-Generation Intravenous Blood Glucose Monitoring System in Hospitalized Patients. J Diabetes Sci Technol. 2015;9:739-50 pubmed publisher
    ..These pairs had a mean absolute difference (MAD) of 11.61 mg/dl, a mean absolute relative difference (MARD) of 8...
  59. Terryn S, De Medts J, Delsupehe K. Comparative Effectiveness of the Different Treatment Modalities for Snoring. Otolaryngol Head Neck Surg. 2015;153:468-75 pubmed publisher
    ..breathing have on snoring and sleepiness: snoring surgery including osteotomies, mandibular advancement device (MAD), and continuous positive airway pressure (CPAP). Single-institution prospective comparative effectiveness trial...
  60. Stroebele E, Erives A. Integration of Orthogonal Signaling by the Notch and Dpp Pathways in Drosophila. Genetics. 2016;203:219-40 pubmed publisher
    ..nab regulatory belt is a novel enhancer driving dorsal wing margin expression in regions of peak phosphorylated Mad in wing imaginal discs...
  61. Hooper N. Could inhibition of the proteasome cause mad cow disease?. Trends Biotechnol. 2003;21:144-5 pubmed
    ..suggests that such inhibition might promote the neurotoxic properties of the prion protein (the causative agent of mad cow disease) and its conformational conversion to the infectious form, thus raising the question as to whether ..
  62. Finsterer J, Schoser B, Stollberger C. Myoadenylate-deaminase gene mutation associated with left ventricular hypertrabeculation/non-compaction. Acta Cardiol. 2004;59:453-6 pubmed
    ..muscle biopsy, markedly reduced MAD activity in the muscle homogenate, and the C34T mutation within exon 2 of the AMPD1 gene...
  63. Lifanov D, Khadyeva M, Rahmatullina L, Demenev S, Ibragimov R. Effect of creatine supplementation on physical performance are related to the AMPD1 and PPARG genes polymorphisms in football players. Ross Fiziol Zh Im I M Sechenova. 2014;100:767-76 pubmed
    ..The present study was limited as long as to two common polymorphisms, such as C34T AMPD1 and Pro12Ala PPARG, selected because previously reported these associations with various aspects of metabolic ..
  64. Lee A, Jin C, Fan Y, Wong R, Underwood M, Wan S. Functional Implication of Mitral Annular Disjunction in Mitral Valve Prolapse: A Quantitative Dynamic 3D Echocardiographic Study. JACC Cardiovasc Imaging. 2017;10:1424-1433 pubmed publisher
    This study aimed to assess the hypothesis that mitral annular disjunction (MAD) is associated with abnormal annular dynamics due to decoupling of annular-ventricular function...
  65. Kim S, Sumner M. Beyond lexical meaning: The effect of emotional prosody on spoken word recognition. J Acoust Soc Am. 2017;142:EL49 pubmed publisher
    ..pineapple spoken in angry prosody or happy prosody) facilitate recognition of semantically emotional words (e.g., mad, upset or smile, joy)...
  66. Baas R, van Teeffelen H, Tjalsma S, Timmers H. The mixed lineage leukemia 4 (MLL4) methyltransferase complex is involved in transforming growth factor beta (TGF-?)-activated gene transcription. Transcription. 2017;:1-8 pubmed publisher
    Sma and Mad related (SMAD)-mediated Transforming Growth Factor ? (TGF-?) and Bone Morphogenetic Protein (BMP) signaling is required for various cellular processes...
  67. van Laarhoven J, de Gast G, Spierenburg G, De Bruyn C. Enzymological studies in chronic lymphocytic leukemia. Leuk Res. 1983;7:261-7 pubmed
    ..phosphoribosyltransferase (HGPRT), adenine phosphoribosyltransferase (APRT), adenosine kinase (AK), AMP-deaminase (AMPD) and adenylate kinase (AdKin) activities were assayed in peripheral blood lymphoid cells from 20 patients with B-..
  68. Tsianos G, Evangelou E, Boot A, Zillikens M, van Meurs J, Uitterlinden A, et al. Associations of polymorphisms of eight muscle- or metabolism-related genes with performance in Mount Olympus marathon runners. J Appl Physiol (1985). 2010;108:567-74 pubmed publisher
    ..Eleven polymorphisms in alpha(3)-actinin (ACTN3), AMP deaminase-1 (AMPD1), bradykinin B(2) receptor (BDKRB2), beta(2)-adrenergic receptor (ADRB2), peroxisome proliferator-activated ..
  69. Knappe S, Bakke M, Svanholt P, Petersson A, Sonnesen L. Long-term side effects on the temporomandibular joints and oro-facial function in patients with obstructive sleep apnoea treated with a mandibular advancement device. J Oral Rehabil. 2017;44:354-362 pubmed publisher
    Patients with obstructive sleep apnoea (OSA) in long-term treatment with a mandibular advancement device (MAD) to increase the upper airway space may develop changes in the temporomandibular joint (TMJ) and the oro-facial function due to ..
  70. Mi Z, Abrahamson E, Ryu A, Fish K, Sweet R, Mufson E, et al. Loss of precuneus dendritic spines immunopositive for spinophilin is related to cognitive impairment in early Alzheimer's disease. Neurobiol Aging. 2017;55:159-166 pubmed publisher
    ..with clinical diagnoses of no cognitive impairment (NCI), mild cognitive impairment (MCI), mild-moderate AD (mAD), or severe AD (sAD). Both measures of spinophilin were lower in mAD and sAD compared with NCI...
  71. Oh J, Lee S, Kim A, Yoon J, Jang K, Lee D, et al. Safety, Tolerability, and Pharmacokinetic Characteristics of a Novel Nonopioid Analgesic, VVZ-149 Injections in Healthy Volunteers: A First-in-Class, First-in-Human Study. J Clin Pharmacol. 2018;58:64-73 pubmed publisher
    ..healthy male volunteers were explored in a randomized, double-blind, single- and multiple-ascending-dose (SAD and MAD, respectively), placebo-controlled clinical study. Subjects randomly received a 4-hour intravenous infusion of 0...
  72. Hamano Y, Manabe S, Morimoto C, Fujimoto S, Tamaki K. Forensic age prediction for saliva samples using methylation-sensitive high resolution melting: exploratory application for cigarette butts. Sci Rep. 2017;7:10444 pubmed publisher
    ..The prediction model showed high accuracy with a mean absolute deviation (MAD) from chronological age of 5.96 years among 197 training samples...
  73. Zhang D, Hao X, Xu L, Cui J, Xue L, Tian Z. Intestinal flora imbalance promotes alcohol-induced liver fibrosis by the TGF?/smad signaling pathway in mice. Oncol Lett. 2017;14:4511-4516 pubmed publisher
    ..Furthermore, an imbalance of intestinal flora can exacerbate alcohol-induced liver fibrosis in mice through the transforming growth factor ?/SMA/MAD homology signaling pathway, which subsequently leads to more serious liver damage.
  74. Vergara V, Weiland B, Hutchison K, Calhoun V. The Impact of Combinations of Alcohol, Nicotine and Cannabis on Dynamic Brain Connectivity. Neuropsychopharmacology. 2017;: pubmed publisher
    ..subjects (SAD), marijuana users (MAR), smoking-and-marijuana users (SAM), marijuana-and-drinking users (MAD) and users of all three substances (ALL)...
  75. Bausch Jurken M, Mahnke Zizelman D, Morisaki T, Sabina R. Molecular cloning of AMP deaminase isoform L. Sequence and bacterial expression of human AMPD2 cDNA. J Biol Chem. 1992;267:22407-13 pubmed
    ..A comparison of the predicted human AMPD1 and AMPD2 polypeptides demonstrates homology in their C-terminal domains...
  76. Mercelis R, Martin J, Dehaene I, de Barsy T, Van den Berghe G. Myoadenylate deaminase deficiency in a patient with facial and limb girdle myopathy. J Neurol. 1981;225:157-66 pubmed
    ..Whereas AMP-deaminase has been shown to play an essential role in the regulation of adenine nucleotide metabolism in the liver, its physiological function in muscle remains uncertain. ..
  77. Safranow K, Dziedziejko V, Rzeuski R, Czyzycka E, Wojtarowicz A, Binczak Kuleta A, et al. Plasma concentrations of TNF-alpha and its soluble receptors sTNFR1 and sTNFR2 in patients with coronary artery disease. Tissue Antigens. 2009;74:386-92 pubmed publisher
    ..e. AMP deaminase-1 (AMPD1, C34T) and adenosine deaminase (ADA, G22A), were analyzed...
  78. Wojda M, Kostrzewa Janicka J, Bielen P, Jurkowski P, Mierzwinska Nastalska E. Therapeutic Efficacy of Mandibular Advancement Devices in Patients with Severe Sleep Apnea: A Preliminary Report. Adv Exp Med Biol. 2018;1040:39-46 pubmed publisher
    ..In patients with mild-moderate form of OSA, intraoral mandibular advancement devices (MAD) are applied...
  79. El Solh A, Homish G, Ditursi G, Lazarus J, Rao N, Adamo D, et al. A Randomized Crossover Trial Evaluating Continuous Positive Airway Pressure Versus Mandibular Advancement Device on Health Outcomes in Veterans With Posttraumatic Stress Disorder. J Clin Sleep Med. 2017;13:1327-1335 pubmed publisher
    ..The aim of this study was to compare the efficacy, adherence, and preference of CPAP versus mandibular advancement device (MAD) and the effect of these treatments on health outcomes in veterans with PTSD.
  80. Houtz P, Bonfini A, Liu X, Revah J, Guillou A, Poidevin M, et al. Hippo, TGF-?, and Src-MAPK pathways regulate transcription of the upd3 cytokine in Drosophila enterocytes upon bacterial infection. PLoS Genet. 2017;13:e1007091 pubmed publisher
    ..and yeast one-hybrid screening, we determined that the transcription factors Scalloped (Sd), Mothers against dpp (Mad), and D-Fos are principal regulators of upd3 expression...
  81. Morisaki T, Holmes E. Functionally distinct elements are required for expression of the AMPD1 gene in myocytes. Mol Cell Biol. 1993;13:5854-60 pubmed
    ..The AMPD1 gene is expressed predominantly in skeletal muscle, in which transcript abundance is controlled by stage-specific ..
  82. Riksen N, Franke B, Oyen W, Borm G, van den Broek P, Boerman O, et al. Augmented hyperaemia and reduced tissue injury in response to ischaemia in subjects with the 34C > T variant of the AMPD1 gene. Eur Heart J. 2007;28:1085-91 pubmed
    In patients with coronary artery disease, the 34C > T variant of the adenosine mono-phosphate deaminase gene (AMPD1), encoding a dysfunctional protein, predicts improved survival...
  83. Juffer P, Furrer R, Gonzalez Freire M, Santiago C, Verde Z, Serratosa L, et al. Genotype distributions in top-level soccer players: a role for ACE?. Int J Sports Med. 2009;30:387-92 pubmed publisher
    ..and allelic frequency of several genetic polymorphisms (ACE I/D, GDF-8K153R [and also E164K, P198A and I225T] and AMPD1 C34T) that are candidates to influence sports performance in a group of 54 male professional soccer players...
  84. Cieszczyk P, Ostanek M, Leońska Duniec A, Sawczuk M, Maciejewska A, Eider J, et al. Distribution of the AMPD1 C34T polymorphism in Polish power-oriented athletes. J Sports Sci. 2012;30:31-5 pubmed publisher
    The aims of this study were to determine the distribution of the AMPD1 genotype among groups of high-level Polish power-oriented athletes, and to investigate potential associations between genetic polymorphism in exon 2 of the AMPD1 gene ..
  85. Smolenski R, Rybakowska I, Turyn J, Romaszko P, Zabielska M, Taegtmeyer A, et al. AMP deaminase 1 gene polymorphism and heart disease-a genetic association that highlights new treatment. Cardiovasc Drugs Ther. 2014;28:183-9 pubmed publisher
    ..Several studies identified that polymorphism of AMP deaminase 1 gene (AMPD1), in particular the common C34T variant of this gene was found to benefit patients with heart ..
  86. Zhang L, Ou J, Xu X, Peng Y, Guo H, Pan Y, et al. AMPD1 functional variants associated with autism in Han Chinese population. Eur Arch Psychiatry Clin Neurosci. 2015;265:511-7 pubmed publisher
    ..loci with autism, we performed sequencing analysis of the coding regions, UTR and flanking splice junctions of AMPD1 in 830 Chinese autism individuals as well as 514 unrelated normal controls...
  87. Pathare G, Nagy I, Hubert A, Thomas D, Bracher A. Crystal structure of the Thermoplasma acidophilum protein Ta1207. Acta Crystallogr F Struct Biol Commun. 2017;73:328-335 pubmed publisher
    ..In solution, Ta1207 forms homopentamers of 188?kDa. The crystal structure of recombinant Ta1207 solved by Se-MAD at 2.4?Å resolution revealed a complex with fivefold symmetry...
  88. Serfaty A, Baron S, Crenn Hebert C, Barry Y, Tala S. [Perinatal health and medical administrative data: What uses, which stakeholders, what the issues for birth data? - Special REDSIAM]. Rev Epidemiol Sante Publique. 2017;65 Suppl 4:S209-S219 pubmed publisher
    The uses of medical administrative data (MAD/BDMA) emerged in perinatal health following the work on regionalization of very pre-term birth. They have become more numerous since the late 2000s...
  89. Qin Y, Higashimori A, Wu L, Hojo T, Kubota K, Li Y. Phase separation and microbial distribution in the hyperthermophilic-mesophilic-type temperature-phased anaerobic digestion (TPAD) of waste activated sludge (WAS). Bioresour Technol. 2017;245:401-410 pubmed publisher
    ..the hyperthermophilic-mesophilic type (HM-TPAD) were operated with a single-stage mesophilic anaerobic digestion (MAD) as control. HM-TPAD accomplished the volatile solids destruction 14.5% higher than MAD...
  90. Gagnadoux F, Nguyen X, le Vaillant M, Priou P, Meslier N, Eberlein A, et al. Comparison of titrable thermoplastic versus custom-made mandibular advancement device for the treatment of obstructive sleep apnoea. Respir Med. 2017;131:35-42 pubmed publisher
    The disadvantages of custom-made mandibular advancement devices (MAD) for obstructive sleep apnoea (OSA) therapy are the cost and delay required to manufacture the device...
  91. Burla M, Cascarano G, Giacovazzo C, Polidori G. Synergy among phase-refinement techniques in macromolecular crystallography. Acta Crystallogr D Struct Biol. 2017;73:877-888 pubmed publisher
    ..The statement is confirmed by experimental tests using molecular-replacement, SAD-MAD and ab initio techniques.
  92. Sabina R, Fishbein W, Pezeshkpour G, Clarke P, Holmes E. Molecular analysis of the myoadenylate deaminase deficiencies. Neurology. 1992;42:170-9 pubmed
    b>Myoadenylate deaminase (mAMPD) deficiency in a clinically heterogeous metabolic myopathy consisting of primary (inherited) and secondary (acquired) forms based on a variety of clinical and laboratory findings...