AK1

Summary

Gene Symbol: AK1
Description: adenylate kinase 1
Alias: HTL-S-58j, adenylate kinase isoenzyme 1, ATP-AMP transphosphorylase 1, ATP:AMP phosphotransferase, adenylate monophosphate kinase, myokinase, testis secretory sperm binding protein Li 58j
Species: human
Products:     AK1

Top Publications

  1. Dongerdiye R, Kamat P, Jain P, Warang P, Devendra R, Wasekar N, et al. Red cell adenylate kinase deficiency in India: identification of two novel missense mutations (c.71A>G and c.413G>A). J Clin Pathol. 2019;: pubmed publisher
    ..deficiency depends on the decreased level of enzyme activity in red cell and identification of a mutation in the AK1 gene. Until, only eight mutations causing AK deficiency have been reported in the literature...
  2. Beall C, Watterson K, McCrimmon R, Ashford M. AMPK modulates glucose-sensing in insulin-secreting cells by altered phosphotransfer to KATP channels. J Bioenerg Biomembr. 2013;45:229-41 pubmed publisher
    ..Using conditions that maximised AMPK-induced KATP opening, there was a significant increase in AK1, AK2 and UCP2 mRNA expression...
  3. Lin J, Wu S, Huang S, Lu B, Lin S, Tsai S. Resveratrol protects left ventricle by increasing adenylate kinase and isocitrate dehydrogenase activities in rats with myocardial infarction. Chin J Physiol. 2011;54:406-12 pubmed publisher
    ..In proteomic analysis, the MI group showed decreased expression of adenylate kinase 1 (AK1) and mitochondrial NADP⁺-dependent isocitrate dehydrogenase (IDPm) after MI compared with the sham group...
  4. Frugone M, Lowther A, Noll D, Ramos B, Pistorius P, Dantas G, et al. Contrasting phylogeographic pattern among Eudyptes penguins around the Southern Ocean. Sci Rep. 2018;8:17481 pubmed publisher
    ..Here we analyze two mtDNA (HVRI, COI) and two nuclear (ODC, AK1) markers from 13 locations of five putative Eudyptes species: rockhopper (E. filholi, E. chrysocome, and E...
  5. Yano D, Suzuki T. Kinetic Analyses of the Substrate Inhibition of Paramecium Arginine Kinase. Protein J. 2018;37:581-588 pubmed publisher
    Paramecium tetraurelia expresses four types of arginine kinase (AK1-AK4)...
  6. Ingvadottir E, Scully S, Orlygsson J. Production of (S)-1,2-propanediol from l-rhamnose using the moderately thermophilic Clostridium strain AK1. Anaerobe. 2018;54:26-30 pubmed publisher
    Clostridium strain AK1 was investigated for its capacity of producing 1,2-propanediol from l-rhamnose but not l-fucose. The maximum yields of 1,2-propanediol from rhamnose was 0.81 mol 1,2-PD/mol l-rhamnose...
  7. Peleli M, Aggeli I, Matralis A, Kourounakis A, Beis I, Gaitanaki C. Evaluation of two novel antioxidants with differential effects on curcumin-induced apoptosis in C2 skeletal myoblasts; involvement of JNKs. Bioorg Med Chem. 2015;23:390-400 pubmed publisher
    ..this context, aiming at further exploring the mechanisms of action of our newly synthesized antioxidant compounds (AK1 and AK2) in a skeletal muscle experimental setting, we initially investigated their scavenging effect on 2,2-..
  8. Ge L, Zhu M, Yang J, Wang F, Zhang R, Zhang J, et al. Differential proteomic analysis of the anti-depressive effects of oleamide in a rat chronic mild stress model of depression. Pharmacol Biochem Behav. 2015;131:77-86 pubmed publisher
    ..In the proteomic analysis, 12 protein spots were selected and identified. CMS increased the levels of adenylate kinase isoenzyme 1 (AK1), nucleoside diphosphate kinase B (NDKB), histidine triad nucleotide-binding protein 1 (HINT1), ..
  9. She D, Wong L, Baik S, Arumugam T. SIRT2 Inhibition Confers Neuroprotection by Downregulation of FOXO3a and MAPK Signaling Pathways in Ischemic Stroke. Mol Neurobiol. 2018;55:9188-9203 pubmed publisher
    ..deprivation (OGD) under in vitro ischemic conditions, and subsequently tested for the efficacy of SIRT2 inhibitors AK1 and AGK2 in attenuating apoptotic cell death caused by OGD...

More Information

Publications60

  1. Rydzik A, Leung I, Kochan G, Loik N, Henry L, McDonough M, et al. Comparison of the substrate selectivity and biochemical properties of human and bacterial γ-butyrobetaine hydroxylase. Org Biomol Chem. 2014;12:6354-8 pubmed publisher
    ..b>AK1 were compared. The results reveal differences between the two BBOXs, including in their stimulation by ascorbate...
  2. Jiang Z, Wu Y, Csizmadia E, Feldbrügge L, Enjyoji K, Tigges J, et al. Characterization of circulating microparticle-associated CD39 family ecto-nucleotidases in human plasma. Purinergic Signal. 2014;10:611-8 pubmed publisher
    ..Circulating ecto-nucleoside triphosphate diphosphohydrolase 1 (NTPDase 1/CD39) and adenylate kinase 1 (AK1) activities have been shown to be present in plasma...
  3. Allegra S, Cusato J, De Nicolò A, Boglione L, Gatto A, Cariti G, et al. Role of pharmacogenetic in ribavirin outcome prediction and pharmacokinetics in an Italian cohort of HCV-1 and 4 patients. Biomed Pharmacother. 2015;69:47-55 pubmed publisher
    Ribavirin is phosphorylated by adenosine kinase 1 (AK1) and cytosolic 5'-nucleotidase 2 and it is transported into cells by concentrative nucleoside transporters (CNT) 2/3, coded by SLC28A2/3 genes, and equilibrative nucleoside ..
  4. Chouno K, Yano D, Uda K, Fujita T, Iwasaki N, Suzuki T. Arginine kinases from the marine feather star Tropiometra afra macrodiscus: The first finding of a prenylation signal sequence in metazoan phosphagen kinases. Comp Biochem Physiol B Biochem Mol Biol. 2015;187:55-61 pubmed publisher
    Two arginine kinase cDNAs (AK1 and AK2) were isolated from the marine feather star Tropiometra afra macrodiscus, and the gene structure (exon/intron organization) of AK1 was determined...
  5. Okazaki N, Motomura S, Okazoe N, Yano D, Suzuki T. Cooperativity and evolution of Tetrahymena two-domain arginine kinase. Int J Biol Macromol. 2015;79:696-703 pubmed publisher
    Tetrahymena pyriformis contains two arginine kinases, a 40-kDa enzyme (AK1) with a myristoylation signal sequence at the N-terminus and a two-domain 80-kDa enzyme (AK2)...
  6. Kowal J, Yegutkin G, Novak I. ATP release, generation and hydrolysis in exocrine pancreatic duct cells. Purinergic Signal. 2015;11:533-50 pubmed publisher
    ..In addition, Capan-1 cells express counteracting adenylate kinase (AK1) and nucleoside diphosphate kinase (NDPK) enzymes (NME1, 2), which contribute to metabolism and regeneration of ..
  7. Silva D, Esteves A, Oliveira C, Cardoso S. Mitochondrial Metabolism Power SIRT2-Dependent Deficient Traffic Causing Alzheimer's-Disease Related Pathology. Mol Neurobiol. 2017;54:4021-4040 pubmed publisher
    ..SIRT2 loss of function either with AK1 (a specific SIRT2 inhibitor) or by SIRT2 knockout recovers microtubule stabilization and improves autophagy, ..
  8. Yano D, Suzuki T, Hirokawa S, Fuke K, Suzuki T. Characterization of four arginine kinases in the ciliate Paramecium tetraurelia: Investigation on the substrate inhibition mechanism. Int J Biol Macromol. 2017;101:653-659 pubmed publisher
    The ciliate Paramecium tetraurelia contains four arginine kinase genes (AK1-4). We detected cDNA for only three of the AKs (AK1-3) via PCR. Recombinant AK1-4 were expressed in Escherichia coli and their kinetics parameters determined...
  9. Motomura S, Suzuki T. Evidence for N-Terminal Myristoylation of Tetrahymena Arginine Kinase Using Peptide Mass Fingerprinting Analysis. Protein J. 2016;35:212-7 pubmed publisher
    In this study, we confirmed N-terminal myristoylation of Tetrahymena pyriformis arginine kinase (AK1) by identifying a myristoylation signal sequence at the N-terminus...
  10. Khalil A, Sivakumar N, Qarawi S. Genome Sequence of Anoxybacillus flavithermus Strain AK1, a Thermophile Isolated from a Hot Spring in Saudi Arabia. Genome Announc. 2015;3: pubmed publisher
    Anoxybacillus flavithermus strain AK1 was isolated from Al-Ain Alhara, a thermal hot spring located 50 km southeast of the city of Gazan, Saudi Arabia (16°56'N, 43°15'E)...
  11. Jun Q, Lulu T, Qingling M, Xingxing Z, Haiting L, Shasha G, et al. Serological and molecular investigation of porcine sapovirus infection in piglets in Xinjiang, China. Trop Anim Health Prod. 2016;48:863-9 pubmed publisher
    ..and swine/XJ-SHZ1) shared high nucleotide and amino acid identities with Cowden strain, while strain swine/XJ-AK1 shared higher high identities with Po/OH-JJ681/2000/US isolate...
  12. Koso H, Tsuhako A, Lai C, Baba Y, Otsu M, Ueno K, et al. Conditional rod photoreceptor ablation reveals Sall1 as a microglial marker and regulator of microglial morphology in the retina. Glia. 2016;64:2005-24 pubmed publisher
    ..profiles of the activated microglia and infiltrating macrophages, we identified microglia-specific genes, including Ak1, Ctsf, Sall1, Phlda3, and Spns2...
  13. Clark T, Lu Y. Analysis of Loss-of-Function Mutants in Aspartate Kinase and Homoserine Dehydrogenase Genes Points to Complexity in the Regulation of Aspartate-Derived Amino Acid Contents. Plant Physiol. 2015;168:1512-26 pubmed publisher
    ..The increases of Asp, Lys, and Met in ak-hsdh2 were also observed in ak1-1, ak2-1, ak3-1, and ak-hsdh1-1...
  14. Müller W, Wang S, Neufurth M, Kokkinopoulou M, Feng Q, Schröder H, et al. Polyphosphate as a donor of high-energy phosphate for the synthesis of ADP and ATP. J Cell Sci. 2017;130:2747-2756 pubmed publisher
    ..These vesicles contain both alkaline phosphatase (ALP) and adenylate kinase (AK) activities (mediated by ALPL and AK1 enzymes). Both enzymes translocate to the cell membrane in response to polyP...
  15. Taguchi A, Rho J, Yan Q, Zhang Y, Zhao Y, Xu H, et al. MAPRE1 as a plasma biomarker for early-stage colorectal cancer and adenomas. Cancer Prev Res (Phila). 2015;8:1112-9 pubmed publisher
    ..400 at 95% specificity for differentiating early colorectal cancer from controls. Three other biomarkers (AK1, CLIC1, and SOD1) were significantly increased in both adenoma and early colorectal cancer patient plasma samples ..
  16. Motaghinejad M, Motevalian M, Falak R, Heidari M, Sharzad M, Kalantari E. Neuroprotective effects of various doses of topiramate against methylphenidate-induced oxidative stress and inflammation in isolated rat amygdala: the possible role of CREB/BDNF signaling pathway. J Neural Transm (Vienna). 2016;123:1463-1477 pubmed
    ..In addition, oxidative, antioxidantand inflammatory factors and CREB, Ak1, CAMK4, MAPK3, PKA, BDNF, and c FOS gene levels were measured by RT-PCR, and also, CREB and BDNF protein levels ..
  17. Lucas E, Dougherty S, McMeekin L, Reid C, Dobrunz L, West A, et al. PGC-1α provides a transcriptional framework for synchronous neurotransmitter release from parvalbumin-positive interneurons. J Neurosci. 2014;34:14375-87 pubmed publisher
    ..heavy chain (Nefh)], and metabolic [neutral cholesterol ester hydrolase 1 (Nceh1), adenylate kinase 1 (Ak1), inositol polyphosphate 5-phosphatase J (Inpp5j), ATP synthase mitochondrial F1 complex O subunit (Atp5o), ..
  18. Motaghinejad M, Motevalian M, Abdollahi M, Heidari M, Madjd Z. Topiramate Confers Neuroprotection Against Methylphenidate-Induced Neurodegeneration in Dentate Gyrus and CA1 Regions of Hippocampus via CREB/BDNF Pathway in Rats. Neurotox Res. 2017;31:373-399 pubmed publisher
    ..Expression of the total and phosphorylated CREB and BDNF in gene and protein levels, and gene expression of Ak1, CaMK4, MAPK3, PKA, and c-Fos levels were also measured. MPH significantly decreased motor activity in OFT...
  19. Klepinin A, Ounpuu L, Guzun R, Chekulayev V, Timohhina N, Tepp K, et al. Simple oxygraphic analysis for the presence of adenylate kinase 1 and 2 in normal and tumor cells. J Bioenerg Biomembr. 2016;48:531-548 pubmed
    ..method was developed that enables to estimate directly and semi-quantitatively the distribution between cytosolic AK1 and mitochondrial AK2 localized in the intermembrane space, both in isolated cells and tissue samples (biopsy ..
  20. Topalis D, Alvarez K, Barral K, Munier Lehmann H, Schneider B, Veron M, et al. Acyclic phosphonate nucleotides and human adenylate kinases: impact of a borano group on alpha-P position. Nucleosides Nucleotides Nucleic Acids. 2008;27:319-31 pubmed publisher
    ..Docking PMEA to the active site of AMP kinase 1 indicated that the borano group may prevent two conserved critical Arg interactions with the alpha-phosphate, resulting in substrate bad positioning. ..
  21. Park H, Kam T, Kim Y, Choi H, Gwon Y, Kim C, et al. Neuropathogenic role of adenylate kinase-1 in A?-mediated tau phosphorylation via AMPK and GSK3?. Hum Mol Genet. 2012;21:2725-37 pubmed publisher
    ..In this study, we show that adenylate kinase 1 (AK1) is a novel regulator of abnormal tau phosphorylation...
  22. Strauss C, Long H, Patterson C, Te R, Lynch M. Genome-Wide Mutation Rate Response to pH Change in the Coral Reef Pathogen Vibrio shilonii AK1. MBio. 2017;8: pubmed publisher
    ..We discovered that the genome-wide rates of appearance of most mutation types decrease linearly and that the mutation spectrum is biased in generating more G/C nucleotides with pH drop in the coral reef pathogen V. shilonii. ..
  23. Miwa S, Fujii H, Tani K, Takahashi K, Takizawa T, Igarashi T. Red cell adenylate kinase deficiency associated with hereditary nonspherocytic hemolytic anemia: clinical and biochemical studies. Am J Hematol. 1983;14:325-33 pubmed
    ..The mode of inheritance of this case is obscure. The mechanism of hemolysis might be a structural gene mutation that caused altered electrophoretic and kinetic properties. ..
  24. Quillen E, Haslam G, Samra H, Amani Taleshi D, Knight J, Wyatt D, et al. Ectoadenylate kinase and plasma membrane ATP synthase activities of human vascular endothelial cells. J Biol Chem. 2006;281:20728-37 pubmed
    ..AK activity alone could account for the observed extracellular ATP synthesis. The possible impact of ADP impurity in the assays is discussed. ..
  25. von Zabern I, Wittmann Liebold B, Untucht Grau R, Schirmer R, Pai E. Primary and tertiary structure of the principal human adenylate kinase. Eur J Biochem. 1976;68:281-90 pubmed
    ..Some implications of this phenomenom for the molecular biology and the molecular pharmacology of man are discussed. ..
  26. Amiri M, Conserva F, Panayiotou C, Karlsson A, Solaroli N. The human adenylate kinase 9 is a nucleoside mono- and diphosphate kinase. Int J Biochem Cell Biol. 2013;45:925-31 pubmed publisher
    ..These enzymes are accordingly suggested to be regarded as nucleoside mono- and diphosphate kinases with catalytic activities possibly determined by local substrate concentrations. ..
  27. Fulvia G, Antonio P, Anna N, Patrizia S, Ada A, Egidio B, et al. Adenylate kinase locus 1 polymorphism and feto-placental development. Eur J Obstet Gynecol Reprod Biol. 2011;159:273-5 pubmed publisher
    ..These results suggest that the difference in enzymatic activity between AK? phenotypes influencing the equilibrium among ATP, ADP, AMP and adenosine could have an important role in a balanced development of feto-placental unit. ..
  28. Eckardt K, Schober A, Platzbecker B, Mracek T, Bing C, Trayhurn P, et al. The adipokine zinc-?2-glycoprotein activates AMP kinase in human primary skeletal muscle cells. Arch Physiol Biochem. 2011;117:88-93 pubmed publisher
    ..This mechanism may be involved in mediating the effects of ZAG in relation to increased energy utilization. ..
  29. Yegutkin G, Wieringa B, Robson S, Jalkanen S. Metabolism of circulating ADP in the bloodstream is mediated via integrated actions of soluble adenylate kinase-1 and NTPDase1/CD39 activities. FASEB J. 2012;26:3875-83 pubmed publisher
    ..This phosphotransfer reaction was diminished markedly in serum from knockout mice lacking the major AK isoform, AK1, and in human serum immunodepleted of AK1...
  30. Lange S, Auerbach D, McLoughlin P, Perriard E, Schafer B, Perriard J, et al. Subcellular targeting of metabolic enzymes to titin in heart muscle may be mediated by DRAL/FHL-2. J Cell Sci. 2002;115:4925-36 pubmed
    ..We propose that DRAL/FHL-2 acts as a specific adaptor protein to couple metabolic enzymes to sites of high energy consumption in the cardiac sarcomere. ..
  31. Pucar D, Bast P, Gumina R, Lim L, Drahl C, Juranic N, et al. Adenylate kinase AK1 knockout heart: energetics and functional performance under ischemia-reperfusion. Am J Physiol Heart Circ Physiol. 2002;283:H776-82 pubmed
    Deletion of the major adenylate kinase AK1 isoform, which catalyzes adenine nucleotide exchange, disrupts cellular energetic economy and compromises metabolic signal transduction...
  32. Gloria Bottini F, Nicotra M, Amante A, Pietropolli A, Neri A, Bottini E, et al. Adenylate kinase genetic polymorphism and spontaneous abortion. Am J Hum Biol. 2012;24:186-8 pubmed publisher
  33. Wujak M, Hetmann A, Porowińska D, Roszek K. Gene Expression and Activity Profiling Reveal a Significant Contribution of Exo-Phosphotransferases to the Extracellular Nucleotides Metabolism in HUVEC Endothelial Cells. J Cell Biochem. 2017;118:1341-1348 pubmed publisher
    ..The genes encoding NDPK1, NDPK2, AK1, and AK2 phosphotransferases have been shown to be expressed at the highest level in HUVEC cells...
  34. Gloria Bottini F, Neri A, Pietropolli A, Bottini E, Magrini A. Ak(1) genetic polymorphism and season of conception. Eur J Obstet Gynecol Reprod Biol. 2013;166:161-3 pubmed publisher
    ..The present data suggest a complex interaction involving seasonal cycles, maternal and foetal Ak(1) genotype and sex of foetus concerning their effects on intrauterine selection and neonatal parameters. ..
  35. Li R, Dörfler U, Munch J, Schroll R. Enhanced degradation of isoproturon in an agricultural soil by a Sphingomonas sp. strain and a microbial consortium. Chemosphere. 2017;168:1169-1176 pubmed publisher
    ..strain AK1, IS) or a microbial consortium (MC) harboring this strain, with or without carrier material, were investigated in ..
  36. Muñoz K, Robertson S, Wilson D. Alfaxalone alone or combined with midazolam or ketamine in dogs: intubation dose and select physiologic effects. Vet Anaesth Analg. 2017;44:766-774 pubmed publisher
    ..9% saline (AS), midazolam (0.3 mg kg-1; AM), ketamine (1 mg kg-1; AK1), or ketamine (2 mg kg-1; AK2). Additional alfaxalone (0...
  37. Zuffardi O, Caiulo A, Maraschio P, Tupler R, Bianchi E, Amisano P, et al. Regional assignment of the loci for adenylate kinase to 9q32 and for alpha 1-acid glycoprotein to 9q31-q32. A locus for Goltz syndrome in region 9q32-qter?. Hum Genet. 1989;82:17-9 pubmed
    ..30560) as an X-linked dominant condition. Our finding indicates that the locus for Golz syndrome is autosomal and in region 9q32-qter or that there are two such conditions, one autosomal and one X-linked. ..
  38. Panayiotou C, Solaroli N, Karlsson A. The many isoforms of human adenylate kinases. Int J Biochem Cell Biol. 2014;49:75-83 pubmed publisher
    ..Nine different adenylate kinase isoenzymes have been identified and characterized so far in human tissues, named AK1 to AK9 according to their order of discovery...
  39. Khan A, Beg A, Verma P. Draft Genome Sequence of the First NDM-4-Producing Escherichia coli Strain (AK1), Isolated from Sewage Water of a North Indian Hospital. Genome Announc. 2017;5: pubmed publisher
    ..The genome has an assembly size of 5,076,053 bp, arranged in 129 contigs, with 5,271 genes and a G+C content of 50.47%. ..
  40. Allderdice P, Kaita H, Lewis M, McAlpine P, Wong P, Anderson J, et al. Segregation of marker loci in families with an inherited paracentric insertion of chromosome 9. Am J Hum Genet. 1986;39:612-7 pubmed
    ..1q34.3q34.1) is segregating provide data indicating that ABO lies in 9q22.1-q34.3, AK1 in 9q34.1-q34.3, and ORM in 9q34.3-qter.
  41. Collavin L, Lazarevic D, Utrera R, Marzinotto S, Monte M, Schneider C. wt p53 dependent expression of a membrane-associated isoform of adenylate kinase. Oncogene. 1999;18:5879-88 pubmed
    ..One of the isolated clones represented a novel isoform of cytosolic adenylate kinase (AK1), a highly conserved monomeric enzyme involved in cellular homeostasis of adenine nucleotides...
  42. Bianchi P, Zappa M, Bredi E, Vercellati C, Pelissero G, Barraco F, et al. A case of complete adenylate kinase deficiency due to a nonsense mutation in AK-1 gene (Arg 107 --> Stop, CGA --> TGA) associated with chronic haemolytic anaemia. Br J Haematol. 1999;105:75-9 pubmed
    ..The new variant was named AK Fidenza, from the origin of the patients. ..
  43. Corrons J, Garcia E, Tusell J, Varughese K, West C, Beutler E. Red cell adenylate kinase deficiency: molecular study of 3 new mutations (118G>A, 190G>A, and GAC deletion) associated with hereditary nonspherocytic hemolytic anemia. Blood. 2003;102:353-6 pubmed
    ..The crystal structure of porcine cytosolic AK was used as a molecular model to investigate how these mutations may affect enzyme structure and function. ..
  44. Gloria Bottini F, Magrini A, Pietropolli A, Bergamaschi A, Bottini E. Smoking and human reproduction: the effect of adenylate kinase genetic polymorphism. Am J Perinatol. 2009;26:117-21 pubmed publisher
    ..The proportion of newborns carrying AK1*2 allele was analyzed in relation to smoking and maternal age...
  45. Gloria Bottini F, Antonacci E, Cozzoli E, De Acetis C, Bottini E. The effect of genetic variability on the correlation between blood glucose and glycated hemoglobin levels. Metabolism. 2011;60:250-5 pubmed publisher
    ..If glycation of structural and functional protein is dependent not only on blood glucose level but also on genetic factors, these factors could have an important role in the susceptibility and clinical course of diabetes. ..
  46. Lee Y, Kim J, Lee S, Kim H, Lee K, Park C, et al. Cloning and expression of human adenylate kinase 2 isozymes: differential expression of adenylate kinase 1 and 2 in human muscle tissues. J Biochem. 1998;123:47-54 pubmed
    ..of AK isozymes in human heart and skeletal muscle revealed that AK2 protein was found only in heart, whereas AK1 was detected in both tissues...
  47. Fu H, Pan W, Vincent S. Pyruvate-Kinase-Coupled Glycosyltransferase Assays: Limitations, Struggles and Problem Resolution. Chembiochem. 2017;18:2129-2136 pubmed publisher
    ..Firstly we showed that alternative kinases such as nucleoside 5-diphosphate kinase (NDPK), myokinase (MK), and ADPdependent hexokinase that catalyze similar reactions to PK are prone to the same troubles...
  48. Ruderman N, Carling D, Prentki M, Cacicedo J. AMPK, insulin resistance, and the metabolic syndrome. J Clin Invest. 2013;123:2764-72 pubmed publisher
    ..In this review, we evaluate this body of literature, with special emphasis on the hypothesis that dysregulation of AMPK is both a pathogenic factor for these disorders in humans and a target for their prevention and therapy. ..
  49. Matsuura S, Igarashi M, Tanizawa Y, Yamada M, Kishi F, Kajii T, et al. Human adenylate kinase deficiency associated with hemolytic anemia. A single base substitution affecting solubility and catalytic activity of the cytosolic adenylate kinase. J Biol Chem. 1989;264:10148-55 pubmed
    ..the molecular basis of this disorder, we first cloned the normal gene encoding human cytosolic adenylate kinase (AK1) and determined the structure. The gene was 12 kilobase pairs long and was split into 7 exons...
  50. Tsuboi K. AMP (dAMP) kinase from human erythrocytes. Methods Enzymol. 1978;51:467-73 pubmed
  51. Toren A, Brok Simoni F, Ben Bassat I, Holtzman F, Mandel M, Neumann Y, et al. Congenital haemolytic anaemia associated with adenylate kinase deficiency. Br J Haematol. 1994;87:376-80 pubmed
    ..The AK-deficient children are also mentally retarded. Splenectomy performed in five of the six patients resulted in complete remission of the haemolytic process. ..