| 1 | PRKAA1, PRKAA2, PRKAB1, PRKAG1, PRKAG2, PRKAG3
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| AMP-activated protein kinase: a potential player in Alzheimer's disease.
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| Salminen A, Kaarniranta K, Haapasalo A, Soininen H, Hiltunen M.
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| J Neurochem 118(4):460-74. doi: 10.1111/j.1471-4159.2011.07331.x. Epub 2011 Jun 24. Review.
2011
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| 2 | GSDH, PRKAG2, WPW
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| Severe hypertrophic cardiomyopathy in an infant with a novel PRKAG2 gene mutation: potential differences between infantile and adult onset presentation.
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| Kelly BP, Russell MW, Hennessy JR, Ensing GJ.
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| Pediatr Cardiol 30(8):1176-9.
2009
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| 3 | LAMP2, NKX2-5, PRKAG2
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| Molecular analysis of PRKAG2, LAMP2, and NKX2-5 genes in a cohort of 125 patients with accessory atrioventricular connection.
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| Esposito G, Grutter G, Drago F, Costa MW, De Santis A, Bosco G, Marino B, Bellacchio E, Lepri F, Harvey RP, Sarkozy A, Dallapiccola B.
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| Am J Med Genet A 149A(7):1574-7. No abstract available. PMID: 19533775 2009
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| 4 | ACTC1, CFMH4, CMH1, CMH11, MYBPC3, MYH7, MYL2, MYL3, PRKAG2, TNNI3, TNNT2, TPM1
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| Shared genetic causes of cardiac hypertrophy in children and adults.
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| Morita H, Rehm HL, Menesses A, McDonough B, Roberts AE, Kucherlapati R, Towbin JA, Seidman JG, Seidman CE.
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| N Engl J Med 358(18):1899-908. Epub 2008 Apr 9. 2008
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| 5 | PRKAG2, WPW
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| Nodoventricular accessory pathways in PRKAG2-dependent familial preexcitation syndrome reveal a disorder in cardiac development.
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| Tan HL, van der Wal AC, Campian ME, Kruyswijk HH, ten Hove Jansen B, van Doorn DJ, Oskam HJ, Becker AE, Wilde AA.
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| Circ Arrhythm Electrophysiol 1(4):276-81. Epub 2008 Sep 12.
2008
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| 6 | GSDH,PRKAG2
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| A PRKAG2 mutation causes biphasic changes in myocardial AMPK activity and does not protect against ischemia.
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| Banerjee SK, Ramani R, Saba S, Rager J, Tian R, Mathier MA, Ahmad F.
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| Biochem Biophys Res Commun 360(2):381-7. Epub 2007 Jun 19. 2007
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| 7 | PRKAG2, GSDh
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| Fatal infantile cardiac glycogenosis with phosphorylase kinase deficiency and a mutation in the gamma2-subunit of AMP-activated protein kinase.
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| Akman HO, Sampayo JN, Ross FA, Scott JW, Wilson G, Benson L, Bruno C, Shanske S, Hardie DG, Dimauro S.
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| Pediatr Res 62(4):499-504. 2007
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| 8 | PRKAG2, GSDH
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| A new mutation in PRKAG2 gene causing hypertrophic cardiomyopathy with conduction system disease and muscular glycogenosis.
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| Lafort P, Richard P, Said MA, Romero NB, Lacene E, Leroy JP, Baussan C, Hogrel JY, Lavergne T, Wahbi K, Hainque B, Duboc D.
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| Neuromuscul Disord 16(3):178-82. Epub 2006 Feb 17. 2006
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| 9 | PRKAG2, WPW
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| Ventricular pre-excitation and cardiac hypertrophy mimicking hypertrophic cardiomyopathy in a Turkish family with a novel PRKAG2 mutation.
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| Bayrak F, Komurcu-Bayrak E, Mutlu B, Kahveci G, Basaran Y, Erginel-Unaltuna N.
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| Eur J Heart Fail 8(7):712-5. Epub 2006 May 22.
2006
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| 10 | PRKAG2, GSDH
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| 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.
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| Burwinkel B, Scott JW, Buhrer C, van Landeghem FK, Cox GF, Wilson CJ, Grahame Hardie D, Kilimann MW.
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| Am J Hum Genet 76(6):1034-49. Epub 2005 May 2. 2005
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| 11 | GSDH, PRKAG2
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| Transgenic mice overexpressing mutant PRKAG2 define the cause of Wolff-Parkinson-White syndrome in glycogen storage cardiomyopathy.
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| Arad M, Moskowitz IP, Patel VV, Ahmad F, Perez-Atayde AR, Sawyer DB, Walter M, Li GH, Burgon PG, Maguire CT, Stapleton D, Schmitt JP, Guo XX, Pizard A, Kupershmidt S, Roden DM, Berul CI, Seidman CE, Seidman JG.
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| Circulation 107(22):2850-6. Epub 2003 Jun 2. 2003
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| 12 | PRKAG2
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| 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.
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| Blair E, Redwood C, Ashrafian H, Oliveira M, Broxholme J, Kerr B, Salmon A, Ostman-Smith I, Watkins H.
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| Hum Mol Genet 10(11):1215-20. 2001
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| 13 | MYH6, PRKAG2
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| Identification of a gene responsible for familial Wolff-Parkinson-White syndrome.
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| Gollob MH, Green MS, Tang AS, Gollob T, Karibe A, Ali Hassan AS, Ahmad F, Lozado R, Shah G, Fananapazir L, Bachinski LL, Roberts R, Hassan AS.
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| N Engl J Med 344(24):1823-31. 2001
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| 14 | PRKAG2, WPW
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| Novel PRKAG2 mutation responsible for the genetic syndrome of ventricular preexcitation and conduction system disease with childhood onset and absence of cardiac hypertrophy.
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| Gollob MH, Seger JJ, Gollob TN, Tapscott T, Gonzales O, Bachinski L, Roberts R.
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| Circulation 104(25):3030-3. 2001
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| 15 | PRKAG2, RHEB
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| Molecular cloning, genomic organization, and mapping of PRKAG2, a heart abundant gamma2 subunit of 5'-AMP-activated protein kinase, to human chromosome 7q36.
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| Lang T, Yu L, Tu Q, Jiang J, Chen Z, Xin Y, Liu G, Zhao S.
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| Genomics 70(2):258-63. 2000
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| 16 | PRKAG1, PRKAG2
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| Characterization of AMP-activated protein kinase gamma-subunit isoforms and their role in AMP binding.
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| Cheung PC, Salt IP, Davies SP, Hardie DG, Carling D.
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| Biochem J 346 Pt 3:659-69. 2000
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| 17 | PRKAA1, PRKAB1, PRKAG1, PRKAG2, PRKAA2
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| AMP-activated protein kinase isoenzyme family: subunit structure and chromosomal location.
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| Stapleton D, Woollatt E, Mitchelhill KI, Nicholl JK, Fernandez CS, Michell BJ, Witters LA, Power DA, Sutherland GR, Kemp BE.
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| FEBS Lett 409(3):452-6. 1997
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