Gene Symbol: PRKAG2
Description: protein kinase AMP-activated non-catalytic subunit gamma 2
Alias: AAKG, AAKG2, CMH6, H91620p, WPWS, 5'-AMP-activated protein kinase subunit gamma-2, AMPK subunit gamma-2, protein kinase, AMP-activated, gamma 2 non-catalytic subunit
Species: human
Products:     PRKAG2

Top Publications

  1. Xie T, Gorenjak V, G Stathopoulou M, Dadé S, Marouli E, Masson C, et al. Epigenome-Wide Association Study (EWAS) of Blood Lipids in Healthy Population from STANISLAS Family Study (SFS). Int J Mol Sci. 2019;20: pubmed publisher
    ..Methylation at two CpG sites (PRKAG2; p = 1.39 × 10-8; KREMEN2; p = 5...
  2. Hata Y, Ichimata S, Yamaguchi Y, Hirono K, Oku Y, Ichida F, et al. Clinicopathological and Genetic Profiles of Cases with Myocytes Disarray-Investigation for Establishing the Autopsy Diagnostic Criteria for Hypertrophic Cardiomyopathy. J Clin Med. 2019;8: pubmed publisher
    ..Nine rare variants in 5 HCM-related genes (MYBPC3, MYH7, MYH6, PRKAG2, and CAV3) were found in 8 of 9 cases with myocyte disarray of >5%...
  3. Lee D, Liu Y, Lin C. A wireless sensor enabled by wireless power. Sensors (Basel). 2012;12:16116-43 pubmed publisher by wireless communication, this study proposes the concept of a wireless sensor enabled by wireless power (WPWS) and reports the fabrication of a prototype for functional tests...
  4. Lee S, Hwang H, Hsu P, Chuang T, Liu C, Wu L. Whole-genome methylation profiling from PBMCs in acute-exacerbation COPD patients with good and poor responses to corticosteroid treatment. Genomics. 2018;: pubmed publisher
    ..Validation results confirmed CpG sites in PRKAG2 with different methylation levels in COPD patients and normal subjects...
  5. Tain Y, Lee W, Wu K, Leu S, Chan J. Maternal High Fructose Intake Increases the Vulnerability to Post-Weaning High-Fat Diet-Induced Programmed Hypertension in Male Offspring. Nutrients. 2018;10: pubmed publisher
    ..Post-weaning high-fructose and high-fat diets similarly reduced Sirt4, Prkaa2, Prkag2, Ppara, Pparb, and Ppargc1a mRNA expression in offspring kidneys exposed to maternal high-..
  6. Pöyhönen P, Hiippala A, Ollila L, Kaasalainen T, Hänninen H, Heliö T, et al. Cardiovascular magnetic resonance findings in patients with PRKAG2 gene mutations. J Cardiovasc Magn Reson. 2015;17:89 pubmed publisher
    Autosomal dominantly inherited PRKAG2 cardiac syndrome is due to a unique defect of the cardiac cell metabolism and has a distinctive histopathology with excess intracellular glycogen, and prognosis different from sarcomeric hypertrophic ..
  7. Xie C, Zhang Y, Song L, Luo J, Qi W, Hu J, et al. Genome editing with CRISPR/Cas9 in postnatal mice corrects PRKAG2 cardiac syndrome. Cell Res. 2016;26:1099-1111 pubmed publisher
    b>PRKAG2 cardiac syndrome is an autosomal dominant inherited disease resulted from mutations in the PRKAG2 gene that encodes ?2 regulatory subunit of AMP-activated protein kinase...
  8. Pintér K, Grignani R, Czibik G, Farza H, Watkins H, Redwood C. Embryonic expression of AMPK γ subunits and the identification of a novel γ2 transcript variant in adult heart. J Mol Cell Cardiol. 2012;53:342-9 pubmed publisher
    ..Mutations in PRKAG2, which encodes the γ2 regulatory subunit, cause a cardiomyopathy characterized by hypertrophy and conduction ..
  9. Mori M, Bailey L, Estrada J, Rehder C, Li J, Rogers J, et al. Severe Cardiomyopathy as the Isolated Presenting Feature in an Adult with Late-Onset Pompe Disease: A Case Report. JIMD Rep. 2017;31:79-83 pubmed publisher
    Many inborn errors of metabolism can cause cardiomyopathy. Cardiomyopathy associated with glycogen storage includes PRKAG2-associated glycogen storage disease (GSD), Danon disease, infantile-onset Pompe disease (GSD II), GSD III, GSD IV, ..

More Information

Publications101 found, 100 shown here

  1. Bowles N, Jou C, Arrington C, Kennedy B, Earl A, Matsunami N, et al. Exome analysis of a family with Wolff-Parkinson-White syndrome identifies a novel disease locus. Am J Med Genet A. 2015;167A:2975-84 pubmed publisher
    ..To date, mutations in only one gene, PRKAG2, which encodes the 5'-AMP-activated protein kinase subunit γ-2, have been identified as causative for WPW...
  2. Tullet J, Araiz C, Sanders M, Au C, Benedetto A, Papatheodorou I, et al. DAF-16/FoxO directly regulates an atypical AMP-activated protein kinase gamma isoform to mediate the effects of insulin/IGF-1 signaling on aging in Caenorhabditis elegans. PLoS Genet. 2014;10:e1004109 pubmed publisher
    ..C. elegans has 5 genes encoding putative AMP-binding regulatory γ subunits, aakg-1-5...
  3. Morita H, Rehm H, Menesses A, McDonough B, Roberts A, Kucherlapati R, et al. Shared genetic causes of cardiac hypertrophy in children and adults. N Engl J Med. 2008;358:1899-908 pubmed publisher
    ..These genes encode sarcomere proteins that, when mutated, cause adult-onset cardiomyopathies. We also sequenced PRKAG2 and LAMP2, which encode metabolic proteins; mutations in these genes can cause early-onset ventricular hypertrophy...
  4. Zhang T, Hu J, Wang X, Zhao X, Li Z, Niu J, et al. MicroRNA-378 promotes hepatic inflammation and fibrosis via modulation of the NF-κB-TNFα pathway. J Hepatol. 2019;70:87-96 pubmed publisher
    ..Further studies revealed that miR-378 directly targeted Prkag2 that encodes AMP-activated protein kinase γ 2 (AMPKγ2)...
  5. Kottgen A, Pattaro C, Böger C, Fuchsberger C, Olden M, Glazer N, et al. New loci associated with kidney function and chronic kidney disease. Nat Genet. 2010;42:376-84 pubmed publisher
    ..13 new loci affecting renal function and CKD (in or near LASS2, GCKR, ALMS1, TFDP2, DAB2, SLC34A1, VEGFA, PRKAG2, PIP5K1B, ATXN2, DACH1, UBE2Q2 and SLC7A9) and 7 loci suspected to affect creatinine production and secretion (..
  6. Tragante V, Barnes M, Ganesh S, Lanktree M, Guo W, Franceschini N, et al. Gene-centric meta-analysis in 87,736 individuals of European ancestry identifies multiple blood-pressure-related loci. Am J Hum Genet. 2014;94:349-60 pubmed publisher
    ..11 previously undescribed associations in independent loci containing 31 genes including PDE1A, HLA-DQB1, CDK6, PRKAG2, VCL, H19, NUCB2, RELA, HOXC@ complex, FBN1, and NFAT5 at the Bonferroni-corrected array-wide significance ..
  7. Zhan Y, Sun X, Li B, Cai H, Xu C, Liang Q, et al. Establishment of a PRKAG2 cardiac syndrome disease model and mechanism study using human induced pluripotent stem cells. J Mol Cell Cardiol. 2018;117:49-61 pubmed publisher
    b>PRKAG2 cardiac syndrome is a distinct form of human cardiomyopathy characterized by cardiac hypertrophy, ventricular pre-excitation and progressive cardiac conduction disorder...
  8. Van Zuydam N, Ahlqvist E, Sandholm N, Deshmukh H, Rayner N, Abdalla M, et al. A Genome-Wide Association Study of Diabetic Kidney Disease in Subjects With Type 2 Diabetes. Diabetes. 2018;67:1414-1427 pubmed publisher
    ..enlarged analysis, for association at previously reported DKD signals, except for those at UMOD and PRKAG2, both associated with estimated glomerular filtration rate...
  9. Jassim G, Fernø J, Theisen F, Haberhausen M, Christoforou A, Håvik B, et al. Association study of energy homeostasis genes and antipsychotic-induced weight gain in patients with schizophrenia. Pharmacopsychiatry. 2011;44:15-20 pubmed publisher
    ..We genotyped tagSNPs in several genes ( ADIPOQ, PRKAA1, PRKAA2, PRKAB1, PRKAG1, PRKAG2, PRKAG3, FTO and FABP3) that regulate lipid and energy homeostasis for their possible association to antipsychotic-..
  10. Sun A, Wang J, Shan Y, Yu W, Li X, Cong C, et al. Identifying distinct candidate genes for early Parkinson's disease by analysis of gene expression in whole blood. Neuro Endocrinol Lett. 2014;35:398-404 pubmed
    ..After PCA confirmation, we specifically pointed out 4 genes (PRKAG2, DLG1, DDX3Y, RPS4Y) as the high confidence distinct candidates in PD...
  11. Yavari A, Sarma D, Sternick E. Human γ2-AMPK Mutations. Methods Mol Biol. 2018;1732:581-619 pubmed publisher
    In humans, dominant mutations in the gene encoding the regulatory γ2-subunit of AMP-activated protein kinase (PRKAG2) result in a highly penetrant phenotype dominated by cardiac features: left ventricular hypertrophy, ventricular pre-..
  12. Nouira S, Ouarda F, Charfeddine C, Arfa I, Ouragini H, Abid F, et al. Clinical and genetic investigation of pediatric cases of Wolff-Parkinson-White syndrome in Tunisian families. Heart Lung. 2010;39:432-6 pubmed publisher
    ..Several mutations within the PRKAG2 gene were shown to be responsible for WPW...
  13. Yang K, Lu C, Zhang Y, Yang Y, Li J, Lan T, et al. A novel PRKAG2 mutation in a Chinese family with cardiac hypertrophy and ventricular pre-excitation. Sci Rep. 2017;7:2407 pubmed publisher
    b>PRKAG2 syndrome is a rare autosomal dominant inherited disorder that is characterized by cardiac hypertrophy, ventricular pre-excitation and conduction system abnormalities...
  14. Arad M, Maron B, Gorham J, Johnson W, Saul J, Perez Atayde A, et al. Glycogen storage diseases presenting as hypertrophic cardiomyopathy. N Engl J Med. 2005;352:362-72 pubmed
    ..Because mutations in the gene for AMP-activated protein kinase gamma2 (PRKAG2) cause an accumulation of cardiac glycogen and left ventricular hypertrophy that mimics hypertrophic ..
  15. Blair E, Redwood C, Ashrafian H, Oliveira M, Broxholme J, Kerr B, et al. Mutations in the gamma(2) subunit of AMP-activated protein kinase cause familial hypertrophic cardiomyopathy: evidence for the central role of energy compromise in disease pathogenesis. Hum Mol Genet. 2001;10:1215-20 pubmed
    ..We now describe mutations in PRKAG2, encoding the gamma(2) subunit of AMP-activated protein kinase (AMPK), in two families with severe HCM and ..
  16. Hofmann B, Nishanian P, Baldwin R, Insixiengmay P, Nel A, Fahey J. HIV inhibits the early steps of lymphocyte activation, including initiation of inositol phospholipid metabolism. J Immunol. 1990;145:3699-705 pubmed
    ..Reduced availability of DAG presumably interferes with pkC activation and leads to decreased expression of receptors for IL-2 and transferrin and impaired proliferation. ..
  17. Boyle K, Patinkin Z, Shapiro A, Bader C, Vanderlinden L, Kechris K, et al. Maternal obesity alters fatty acid oxidation, AMPK activity, and associated DNA methylation in mesenchymal stem cells from human infants. Mol Metab. 2017;6:1503-1516 pubmed publisher
    ..Targeted analysis of DNA methylation array revealed Ob-MSC hypermethylation in genes regulating FAO (PRKAG2, ACC2, CPT1A, SDHC) and corresponding lower mRNA content of these genes...
  18. Sidhu J, Rajawat Y, Rami T, Gollob M, Wang Z, Yuan R, et al. Transgenic mouse model of ventricular preexcitation and atrioventricular reentrant tachycardia induced by an AMP-activated protein kinase loss-of-function mutation responsible for Wolff-Parkinson-White syndrome. Circulation. 2005;111:21-9 pubmed
    We identified a gene (PRKAG2) that encodes the gamma-2 regulatory subunit of AMP-activated protein kinase (AMPK) with a mutation (Arg302Gln) responsible for familial Wolff-Parkinson-White (WPW) syndrome...
  19. Hinson J, Chopra A, Lowe A, Sheng C, Gupta R, Kuppusamy R, et al. Integrative Analysis of PRKAG2 Cardiomyopathy iPS and Microtissue Models Identifies AMPK as a Regulator of Metabolism, Survival, and Fibrosis. Cell Rep. 2016;17:3292-3304 pubmed publisher
    ..Missense mutations in the regulatory subunit, PRKAG2, activate AMPK and cause left ventricular hypertrophy, glycogen accumulation, and ventricular pre-excitation...
  20. Zhang H, Wu M. SIRT1 regulates Tat-induced HIV-1 transactivation through activating AMP-activated protein kinase. Virus Res. 2009;146:51-7 pubmed publisher
  21. Hofmann B, Nishanian P, Fan J, Nguyen T, Fahey J. HIV Gag p17 protein impairs proliferation of normal lymphocytes in vitro. AIDS. 1994;8:1016-7 pubmed
  22. Tan H, van der Wal A, Campian M, Kruyswijk H, ten Hove Jansen B, van Doorn D, et al. Nodoventricular accessory pathways in PRKAG2-dependent familial preexcitation syndrome reveal a disorder in cardiac development. Circ Arrhythm Electrophysiol. 2008;1:276-81 pubmed publisher
    Familial preexcitation syndrome is linked to mutations in PRKAG2. Previous studies on the R302Q mutation have provided evidence for a remarkably high proportion of otherwise rare accessory pathways with atrioventricular (AV) node-like ..
  23. Banankhah P, Fishbein G, Dota A, Ardehali R. Cardiac manifestations of PRKAG2 mutation. BMC Med Genet. 2018;19:1 pubmed publisher
    The Protein Kinase AMP-Activated Non-Catalytic Subunit Gamma 2 (PRKAG2) cardiac syndrome is characterized by glycogen accumulation in the cardiac tissue...
  24. Kondratowicz A, Hunt C, Davey R, Cherry S, Maury W. AMP-activated protein kinase is required for the macropinocytic internalization of ebolavirus. J Virol. 2013;87:746-55 pubmed publisher
    ..In total, these findings implicate AMPK in macropinocytic events needed for EBOV GP-dependent entry and identify a novel cellular target for new filoviral antivirals. ..
  25. De Matteo R, Hodgson D, Bianco Miotto T, Nguyen V, Owens J, Harding R, et al. Betamethasone-exposed preterm birth does not impair insulin action in adult sheep. J Endocrinol. 2017;232:175-187 pubmed
    ..Hepatic PRKAG2 expression was greater in preterm than in term males (P?=?0...
  26. Kottgen A, Albrecht E, Teumer A, Vitart V, Krumsiek J, Hundertmark C, et al. Genome-wide association analyses identify 18 new loci associated with serum urate concentrations. Nat Genet. 2013;45:145-54 pubmed publisher
    ..with serum urate concentrations (18 new regions in or near TRIM46, INHBB, SFMBT1, TMEM171, VEGFA, BAZ1B, PRKAG2, STC1, HNF4G, A1CF, ATXN2, UBE2Q2, IGF1R, NFAT5, MAF, HLF, ACVR1B-ACVRL1 and B3GNT4)...
  27. Fu C, Tian W, Li Y, Wei S, Cheng G, Wang H, et al. Novel polymorphisms of the PRKAG2 gene and their association with body measurement and meat quality traits in Qinchuan cattle. Genet Mol Res. 2015;14:3669-79 pubmed publisher
    ..b>PRKAG2, which encodes the γ2 regulatory subunit of AMPK, is associated with key metabolic pathways in muscle...
  28. Hedberg Oldfors C, Oldfors A. Polyglucosan storage myopathies. Mol Aspects Med. 2015;46:85-100 pubmed publisher
    ..polyglucosan storage involving muscle, namely GYG1, GBE1, RBCK1 (HOIL-1), PFKM, EPM2A, EPM2B (NHLRC1), PRDM8, and PRKAG2. There is also a common equine polysaccharide storage myopathy belonging to this group of diseases involving the ..
  29. Zhao Y, Cao H, Song Y, Feng Y, Ding X, Pang M, et al. Identification of novel mutations including a double mutation in patients with inherited cardiomyopathy by a targeted sequencing approach using the Ion Torrent PGM system. Int J Mol Med. 2016;37:1511-20 pubmed publisher
    ..alkali, ventricular, skeletal, slow (MYL3); and protein kinase, AMP-activated, gamma 2 non-catalytic subunit  (PRKAG2)] in 8 patients with dilated cardiomyopathy (DCM) and in 8 patients with hypertrophic cardiomyopathy (HCM) ..
  30. Jin S, Moujahid E, Duan Z, Zheng J, Qu L, Xu G, et al. Association of AMPK subunit gene polymorphisms with growth, feed intake, and feed efficiency in meat-type chickens. Poult Sci. 2016;95:1492-7 pubmed publisher
    ..previously reported SNPs in the chicken adenosine monophosphate activated protein kinase (AMPK) subunits PRKAB1, PRKAG2, and PRKAG3 genes with body weight (BW), body weight gain (BWG), feed intake (FI), and feed conversion ratio (FCR) ..
  31. Macrae C, Ghaisas N, Kass S, Donnelly S, Basson C, Watkins H, et al. Familial Hypertrophic cardiomyopathy with Wolff-Parkinson-White syndrome maps to a locus on chromosome 7q3. J Clin Invest. 1995;96:1216-20 pubmed
    ..80 at theta = 0). While four different FHC loci have been described this is the first locus that can be mutated to cause both WPW and/or FHC. ..
  32. Swingler S, Gallay P, Camaur D, Song J, Abo A, Trono D. The Nef protein of human immunodeficiency virus type 1 enhances serine phosphorylation of the viral matrix. J Virol. 1997;71:4372-7 pubmed
    ..Recombinant p21-activated kinase hPAK65, a recently proposed relative of the Nef-associated kinase, achieved a comparable result. Taken together, these data suggest that MA is a target of the Nef-associated serine kinase. ..
  33. Stapleton D, Woollatt E, Mitchelhill K, Nicholl J, Fernandez C, Michell B, et al. AMP-activated protein kinase isoenzyme family: subunit structure and chromosomal location. FEBS Lett. 1997;409:452-6 pubmed
    ..Human chromosomal localizations were determined for AMPK-alpha1 (5p11-p14), AMPK-beta1 (12q24.1-24.3) and AMPK-gamma1 (12q12-q14), respectively. ..
  34. Vaughan C, Hom Y, Okin D, McDermott D, Lerman B, Basson C. Molecular genetic analysis of PRKAG2 in sporadic Wolff-Parkinson-White syndrome. J Cardiovasc Electrophysiol. 2003;14:263-8 pubmed
    Mutations in the PRKAG2 gene that encodes the gamma2 regulatory subunit of AMP-activated protein kinase have been shown to cause autosomal dominant Wolff-Parkinson-White (WPW) syndrome associated with hypertrophic cardiomyopathy...
  35. Kaski J, Syrris P, Esteban M, Jenkins S, Pantazis A, Deanfield J, et al. Prevalence of sarcomere protein gene mutations in preadolescent children with hypertrophic cardiomyopathy. Circ Cardiovasc Genet. 2009;2:436-41 pubmed publisher
    ..TNNT2, TPM1, MYL2, MYL3, ACTC, and TNNC1), the genes encoding desmin (DES), and the gamma-2 subunit of AMP kinase (PRKAG2) were screened for mutations. A family history of HCM was present in 48 patients (60.8%)...
  36. Barnitz R, Wan F, Tripuraneni V, Bolton D, Lenardo M. Protein kinase A phosphorylation activates Vpr-induced cell cycle arrest during human immunodeficiency virus type 1 infection. J Virol. 2010;84:6410-24 pubmed publisher
    ..Inhibition of PKA activity during HIV-1 infection abrogates Vpr cell cycle arrest. These findings provide new insight into the signaling event that activates Vpr cell cycle arrest, ultimately leading to the death of infected T cells. ..
  37. Jamshidi M, Schmidt M, Dörk T, Garcia Closas M, Heikkinen T, Cornelissen S, et al. Germline variation in TP53 regulatory network genes associates with breast cancer survival and treatment outcome. Int J Cancer. 2013;132:2044-55 pubmed publisher
    Germline variation in the TP53 network genes PRKAG2, PPP2R2B, CCNG1, PIAS1 and YWHAQ was previously suggested to have an impact on drug response in vitro...
  38. Ben Jehuda R, Eisen B, Shemer Y, Mekies L, Szantai A, Reiter I, et al. CRISPR correction of the PRKAG2 gene mutation in the patient's induced pluripotent stem cell-derived cardiomyocytes eliminates electrophysiological and structural abnormalities. Heart Rhythm. 2018;15:267-276 pubmed publisher
    Mutations in the PRKAG2 gene encoding the γ-subunit of adenosine monophosphate kinase (AMPK) cause hypertrophic cardiomyopathy (HCM) and familial Wolff-Parkinson-White (WPW) syndrome...
  39. Lang T, Yu L, Tu Q, Jiang J, Chen Z, Xin Y, et al. Molecular cloning, genomic organization, and mapping of PRKAG2, a heart abundant gamma2 subunit of 5'-AMP-activated protein kinase, to human chromosome 7q36. Genomics. 2000;70:258-63 pubmed
    ..This cDNA (tentatively termed PRKAG2-b) is identical to a recently reported cDNA (tentatively termed PRKAG2-a) of human AMPK gamma subunits except in ..
  40. Burwinkel B, Scott J, Buhrer C, van Landeghem F, Cox G, Wilson C, et al. Fatal congenital heart glycogenosis caused by a recurrent activating R531Q mutation in the gamma 2-subunit of AMP-activated protein kinase (PRKAG2), not by phosphorylase kinase deficiency. Am J Hum Genet. 2005;76:1034-49 pubmed
    ..However, in three of five patients, we identified identical heterozygous R531Q missense mutations of the PRKAG2 gene, which encodes the gamma 2-subunit of AMP-activated protein kinase, a key regulator of energy balance...
  41. Scott J, Ross F, Liu J, Hardie D. Regulation of AMP-activated protein kinase by a pseudosubstrate sequence on the gamma subunit. EMBO J. 2007;26:806-15 pubmed
    ..Binding of AMP causes a conformational change that prevents this interaction and relieves the inhibition. We present several lines of evidence supporting this hypothesis. ..
  42. Gollob M. Modulating phenotypic expression of the PRKAG2 cardiac syndrome. Circulation. 2008;117:134-5 pubmed publisher
  43. Zhang H, Ruan Z, Sang W. HDAC1/NF?B pathway is involved in curcumin inhibiting of Tat-mediated long terminal repeat transactivation. J Cell Physiol. 2011;226:3385-91 pubmed publisher
    ..Collectively, our data provide new insights into understanding of the molecular mechanisms of curcumin inhibited Tat-regulated transcription, suggesting that targeting AMPK/HDAC1/NF?B pathway could serve as new anti-HIV-1 agents. ..
  44. Zhang B, Ye Z, Xu R, You X, Qin Y, Wu H, et al. Overexpression of G100S mutation in PRKAG2 causes Wolff-Parkinson-White syndrome in zebrafish. Clin Genet. 2014;86:287-91 pubmed publisher
    The Wolff-Parkinson-White (WPW) syndrome was believed to be associated with PRKAG2 gene mutations...
  45. Thévenon J, Laurent G, Ader F, Laforet P, Klug D, Duva Pentiah A, et al. High prevalence of arrhythmic and myocardial complications in patients with cardiac glycogenosis due to PRKAG2 mutations. Europace. 2017;19:651-659 pubmed publisher
    Mutations in PRKAG2, the gene encoding for the γ2 subunit of 5'-AMP-activated protein kinase (AMPK), are responsible for an autosomal dominant glycogenosis with a cardiac presentation, associating hypertrophic cardiomyopathy (HCM), ..
  46. Gollob M, Seger J, Gollob T, Tapscott T, Gonzales O, Bachinski L, et al. Novel PRKAG2 mutation responsible for the genetic syndrome of ventricular preexcitation and conduction system disease with childhood onset and absence of cardiac hypertrophy. Circulation. 2001;104:3030-3 pubmed
    We recently reported a mutation in the PRKAG2 gene to be responsible for a familial syndrome of ventricular preexcitation, atrial fibrillation, conduction defects, and cardiac hypertrophy...
  47. Austin S, Chiou A, Sun B, Case L, Govendrageloo K, Hansen P, et al. Alglucosidase alfa enzyme replacement therapy as a therapeutic approach for a patient presenting with a PRKAG2 mutation. Mol Genet Metab. 2017;120:96-100 pubmed publisher
    b>PRKAG2 syndrome, an autosomal dominant disorder, is characterized by severe infantile hypertrophic cardiomyopathy and heart rhythm disturbances to cases with a later presentation and a spectrum of manifestations including cardiac ..
  48. Willows R, Navaratnam N, Lima A, Read J, Carling D. Effect of different γ-subunit isoforms on the regulation of AMPK. Biochem J. 2017;474:1741-1754 pubmed publisher
    ..Our studies show that activation of AMPK by 991 depends on the nature of the γ-isoform. This finding may have implications for the design of isoform-selective AMPK activators. ..
  49. Gao G, Fernandez C, Stapleton D, Auster A, Widmer J, Dyck J, et al. Non-catalytic beta- and gamma-subunit isoforms of the 5'-AMP-activated protein kinase. J Biol Chem. 1996;271:8675-81 pubmed
    ..The identification of isoform families for the AMPK subunits indicates the potential diversity of the roles of this highly conserved signaling system in nutrient regulation and utilization in mammalian cells. ..
  50. Cheung P, Salt I, Davies S, Hardie D, Carling D. Characterization of AMP-activated protein kinase gamma-subunit isoforms and their role in AMP binding. Biochem J. 2000;346 Pt 3:659-69 pubmed
    ..Labelling studies, using the reactive AMP analogue 8-azido-[(32)P]AMP, indicate that the gamma subunit may participate directly in the binding of AMP within the complex. ..
  51. Kim E, Lee S, Lee K, Cheong H, Namkoong K, Hong C, et al. AMPK ?2 subunit gene PRKAG2 polymorphism associated with cognitive impairment as well as diabetes in old age. Psychoneuroendocrinology. 2012;37:358-65 pubmed publisher
    ..Therefore, we examined the relationship between the AMPK ?2 gene, the PRKAG2 -26C/T polymorphism and cognitive impairment or diabetes in 1609 subjects aged from 60 to 80...
  52. van der Steld L, Campuzano O, Pérez Serra A, Moura de Barros Zamorano M, Sousa Matos S, Brugada R. Wolff-Parkinson-White Syndrome with Ventricular Hypertrophy in a Brazilian Family. Am J Case Rep. 2017;18:766-776 pubmed
    BACKGROUND PRKAG2 syndrome diagnosis is already well-defined as Wolff-Parkinson-White syndrome (WPW), ventricular hypertrophy (VH) due to glycogen accumulation, and conduction system disease (CSD)...
  53. Scheffold T, Waldmüller S, Borisov K. A case of familial hypertrophic cardiomyopathy emphasizes the importance of parallel screening of multiple disease genes. Clin Res Cardiol. 2011;100:627-8 pubmed publisher
  54. Li C, Liu V, Chiu P, Chan D, Ngan H. Over-expressions of AMPK subunits in ovarian carcinomas with significant clinical implications. BMC Cancer. 2012;12:357 pubmed publisher
    ..Correlations with clinical parameters suggest that expressions of AMPK subunits have different clinical implications in ovarian cancer development. ..
  55. Fabris E, Brun F, Porto A, Losurdo P, Vitali Serdoz L, Zecchin M, et al. Cardiac hypertrophy, accessory pathway, and conduction system disease in an adolescent: the PRKAG2 cardiac syndrome. J Am Coll Cardiol. 2013;62:e17 pubmed publisher
  56. Ofir M, Hochhauser E, Vidne B, Freimark D, Arad M. [AMP-activated protein kinase: how a mistake in energy gauge causes glycogen storage]. Harefuah. 2007;146:770-5, 813-4 pubmed
    Mutation in PRKAG2 encoding the gamma2 subunit of the AMP activated protein kinase (AMPK) cause human cardiomyopathy characterized by hypertrophy, Wolff-Parkinson-White syndrome, conduction system disease and glycogen storage in the ..
  57. Hardie D, Carling D. The AMP-activated protein kinase--fuel gauge of the mammalian cell?. Eur J Biochem. 1997;246:259-73 pubmed
    ..AMPK/SNF1 homologues are found in higher plants, and this protein-kinase cascade appears to be an ancient system which evolved to protect cells against the effects of nutritional or environmental stress. ..
  58. Gollob M, Green M, Tang A, Roberts R. PRKAG2 cardiac syndrome: familial ventricular preexcitation, conduction system disease, and cardiac hypertrophy. Curr Opin Cardiol. 2002;17:229-34 pubmed
    ..The causative gene was shown to be the gamma-2 regulatory subunit (PRKAG2) of AMP-activated protein kinase...
  59. Xu M, Li X, Wang J, Du P, Hong J, Gu W, et al. Glucose and lipid metabolism in relation to novel polymorphisms in the 5'-AMP-activated protein kinase gamma2 gene in Chinese. Mol Genet Metab. 2005;86:372-8 pubmed
    ..20 vs. 2.00 mmol/L, P<0.0001) and total cholesterol (5.88 vs. 4.99 mmol/L, P=0.01). In conclusion, in Chinese, the AMPKgamma2 polymorphisms might be associated with glucose and lipid metabolism. ..
  60. Zhang B, Xu R, Zhang J, Zhao X, Wu H, Ma L, et al. Identification and functional analysis of a novel PRKAG2 mutation responsible for Chinese PRKAG2 cardiac syndrome reveal an important role of non-CBS domains in regulating the AMPK pathway. J Cardiol. 2013;62:241-8 pubmed publisher
    b>PRKAG2 gene encodes the ?2 regulatory subunit of AMP-activated protein kinase (AMPK) that acts as a sensor of cellular energy status, and its germline mutations are responsible for PRKAG2 cardiac syndrome (PCS)...
  61. Shahin M, Gong Y, McDonough C, Rotroff D, Beitelshees A, Garrett T, et al. A Genetic Response Score for Hydrochlorothiazide Use: Insights From Genomics and Metabolomics Integration. Hypertension. 2016;68:621-9 pubmed publisher
    ..05). In addition, integrating genomic and metabolomic data revealed 3 polymorphisms (rs2727563 PRKAG2, rs12604940 DCC, and rs13262930 EPHX2) along with arachidonic acid, converging in the netrin signaling pathway (P=..
  62. Hofmann B, Nishanian P, Nguyen T, Insixiengmay P, Fahey J. Human immunodeficiency virus proteins induce the inhibitory cAMP/protein kinase A pathway in normal lymphocytes. Proc Natl Acad Sci U S A. 1993;90:6676-80 pubmed
    ..These studies show that the HIV-induced augmentation of cAMP/PKA activity may be a key part of the mechanism responsible for all or part of the HIV-induced anergy of T lymphocytes. ..
  63. Stapleton D, Mitchelhill K, Gao G, Widmer J, Michell B, Teh T, et al. Mammalian AMP-activated protein kinase subfamily. J Biol Chem. 1996;271:611-4 pubmed
    ..5-kilobase mRNA and is most prominent in skeletal muscle, heart, and liver. Isoforms of the beta and gamma subunits present in the human genome sequence reveal that the AMPK consists of a family of isoenzymes. ..
  64. Ahmad F, Arad M, Musi N, He H, Wolf C, Branco D, et al. Increased alpha2 subunit-associated AMPK activity and PRKAG2 cardiomyopathy. Circulation. 2005;112:3140-8 pubmed
    AMP-activated protein kinase (AMPK) regulatory gamma2 subunit (PRKAG2) mutations cause a human cardiomyopathy with cardiac hypertrophy, preexcitation, and glycogen deposition...
  65. Luptak I, Shen M, He H, Hirshman M, Musi N, Goodyear L, et al. Aberrant activation of AMP-activated protein kinase remodels metabolic network in favor of cardiac glycogen storage. J Clin Invest. 2007;117:1432-9 pubmed
    ..These findings are of particular importance in considering AMPK as a target for the treatment of metabolic diseases. ..
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    ..The cardiac phenotype observed in humans harbouring genetic mutations in the gamma 2 regulatory subunit (PRKAG2) of AMPK is consistent with abnormal glycogen accumulation in the heart...
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    Mutations in the gene encoding the gamma2 subunit of AMP-activated protein kinase (PRKAG2) cause familial cardiac hypertrophy and electrophysiological abnormalities, with glycogen accumulation in the heart of affected patients...
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    Humans with an R302Q mutation in AMPKgamma(2) (the PRKAG2 gene) develop a glycogen storage cardiomyopathy characterized by a familial form of Wolff-Parkinson-White syndrome and cardiac hypertrophy...
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    ..that HCM associated with Wolff-Parkinson-White syndrome (WPW) and conduction disease can be caused by mutations in PRKAG2, which encodes the gamma2 subunit of AMPK, an enzyme central to cellular energy homeostasis...
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    ..These observations demonstrate a model where TSC2 functions as a key player in regulation of the common mTOR pathway of protein synthesis, cell growth, and viability in response to cellular energy levels. ..
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    ..Through signaling, metabolic, and gene expression effects, AMPK enhances insulin sensitivity and fosters a metabolic milieu that may reduce the risk for obesity and type 2 diabetes. ..
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    i>PRKAG2 encodes the ?2-subunit isoform of 5'-AMP-activated protein kinase (AMPK), a heterotrimeric enzyme with major roles in the regulation of energy metabolism in response to cellular stress...
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    ..Gene analysis identified a R302Q mutation of the gamma2 subunit producing AMP protein kinase, coded by the gene PRKAG2. This is a wrong sense mutation present in the heterozygous state in each of those displaying the ECG anomalies, ..
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    We report the identification of two novel polymorphisms in the PRKAG2 gene and preliminary association study between 5'-UTR and exon 1 polymorphisms with susceptibility to type 2 diabetes...
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    Mutations in PRKAG2, the gene for the gamma 2 regulatory subunit of AMP-activated protein kinase, cause cardiac hypertrophy and electrophysiologic abnormalities, particularly preexcitation (Wolff-Parkinson-White syndrome) and ..
  82. Slattery M, Herrick J, Lundgreen A, Fitzpatrick F, Curtin K, Wolff R. Genetic variation in a metabolic signaling pathway and colon and rectal cancer risk: mTOR, PTEN, STK11, RPKAA1, PRKAG2, TSC1, TSC2, PI3K and Akt1. Carcinogenesis. 2010;31:1604-11 pubmed publisher
    ..4 tagSNPs), TSC1 (14 tagSNPs), TSC2 (8 tagSNPs), Akt1 (2 tagSNPs), PIK3CA (7 tagSNPs), PRKAA1 (13 tagSNPs) and PRKAG2 (68 tagSNPs) in two population-based case-control studies of colon (n = 1574 cases, 1940 controls) and rectal (n = ..
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    ..a missense mutation in the gene that encodes the gamma2 regulatory subunit of AMP-activated protein kinase (PRKAG2). The mutation results in the substitution of glutamine for arginine at residue 302 in the protein...
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    Human mutations in PRKAG2, the gene encoding the gamma2 subunit of AMP activated protein kinase (AMPK), cause a glycogen storage cardiomyopathy...
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    ..The mutation in the PRKAG2 gene was identified as responsible for the familial form of WPW syndrome.
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    b>PRKAG2 encodes the γ2 subunit of AMP-activated protein kinase (AMPK), which is an important regulator of cardiac metabolism...
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    ..These results indicate that mutations in gamma(2) have different effects on AMPK function, suggesting that they may lead to abnormal development of the heart through distinct mechanisms. ..
  88. Charron P, Genest M, Richard P, Komajda M, Pochmalicki G. A familial form of conduction defect related to a mutation in the PRKAG2 gene. Europace. 2007;9:597-600 pubmed
    ..A mutation in the gamma2 subunit of the AMP activated protein kinase gene (PRKAG2) was identified in the four members of the family, with an autosomal dominant inheritance...
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    b>PRKAG2 mutations cause glycogen-storage cardiomyopathy, ventricular preexcitation, and conduction system degeneration...
  91. Murphy R, Mogensen J, McGarry K, Bahl A, Evans A, Osman E, et al. Adenosine monophosphate-activated protein kinase disease mimicks hypertrophic cardiomyopathy and Wolff-Parkinson-White syndrome: natural history. J Am Coll Cardiol. 2005;45:922-30 pubmed investigate the clinical expression of adenosine monophosphate-activated protein kinase (AMPK) gene mutations (PRKAG2) in adenosine monophosphate (AMP) kinase disease based on 12 years follow-up of known mutation carriers and to ..