Citations for
1PRKAA1, PRKAA2, PRKAB1, PRKAG1, PRKAG2, PRKAG3
AMP-activated protein kinase: a potential player in Alzheimer's disease.
Salminen A, Kaarniranta K, Haapasalo A, Soininen H, Hiltunen M.
J Neurochem 118(4):460-74. doi: 10.1111/j.1471-4159.2011.07331.x. Epub 2011 Jun 24. Review. 2011
2GSDH, PRKAG2, WPW
Severe hypertrophic cardiomyopathy in an infant with a novel PRKAG2 gene mutation: potential differences between infantile and adult onset presentation.
Kelly BP, Russell MW, Hennessy JR, Ensing GJ.
Pediatr Cardiol 30(8):1176-9. 2009
3LAMP2, NKX2-5, PRKAG2
Molecular analysis of PRKAG2, LAMP2, and NKX2-5 genes in a cohort of 125 patients with accessory atrioventricular connection.
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.
Am J Med Genet A 149A(7):1574-7. No abstract available. PMID: 19533775 2009
4ACTC1, CMH1, CMH11, CMH4, MYBPC3, MYH7, MYL2, MYL3, PRKAG2, TNNI3, TNNT2, TPM1
Shared genetic causes of cardiac hypertrophy in children and adults.
Morita H, Rehm HL, Menesses A, McDonough B, Roberts AE, Kucherlapati R, Towbin JA, Seidman JG, Seidman CE.
N Engl J Med 358(18):1899-908. Epub 2008 Apr 9. 2008
5PRKAG2, WPW
Nodoventricular accessory pathways in PRKAG2-dependent familial preexcitation syndrome reveal a disorder in cardiac development.
Tan HL, van der Wal AC, Campian ME, Kruyswijk HH, ten Hove Jansen B, van Doorn DJ, Oskam HJ, Becker AE, Wilde AA.
Circ Arrhythm Electrophysiol 1(4):276-81. Epub 2008 Sep 12. 2008
6GSDH,PRKAG2
A PRKAG2 mutation causes biphasic changes in myocardial AMPK activity and does not protect against ischemia.
Banerjee SK, Ramani R, Saba S, Rager J, Tian R, Mathier MA, Ahmad F.
Biochem Biophys Res Commun 360(2):381-7. Epub 2007 Jun 19. 2007
7PRKAG2, GSDh
Fatal infantile cardiac glycogenosis with phosphorylase kinase deficiency and a mutation in the gamma2-subunit of AMP-activated protein kinase.
Akman HO, Sampayo JN, Ross FA, Scott JW, Wilson G, Benson L, Bruno C, Shanske S, Hardie DG, Dimauro S.
Pediatr Res 62(4):499-504. 2007
8PRKAG2, GSDH
A new mutation in PRKAG2 gene causing hypertrophic cardiomyopathy with conduction system disease and muscular glycogenosis.
LaforÉt P, Richard P, Said MA, Romero NB, Lacene E, Leroy JP, Baussan C, Hogrel JY, Lavergne T, Wahbi K, Hainque B, Duboc D.
Neuromuscul Disord 16(3):178-82. Epub 2006 Feb 17. 2006
9PRKAG2, WPW
Ventricular pre-excitation and cardiac hypertrophy mimicking hypertrophic cardiomyopathy in a Turkish family with a novel PRKAG2 mutation.
Bayrak F, Komurcu-Bayrak E, Mutlu B, Kahveci G, Basaran Y, Erginel-Unaltuna N.
Eur J Heart Fail 8(7):712-5. Epub 2006 May 22. 2006
10PRKAG2, GSDH
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.
Burwinkel B, Scott JW, Buhrer C, van Landeghem FK, Cox GF, Wilson CJ, Grahame Hardie D, Kilimann MW.
Am J Hum Genet 76(6):1034-49. Epub 2005 May 2. 2005
11GSDH, PRKAG2
Transgenic mice overexpressing mutant PRKAG2 define the cause of Wolff-Parkinson-White syndrome in glycogen storage cardiomyopathy.
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.
Circulation 107(22):2850-6. Epub 2003 Jun 2. 2003
12PRKAG2
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.
Blair E, Redwood C, Ashrafian H, Oliveira M, Broxholme J, Kerr B, Salmon A, Ostman-Smith I, Watkins H.
Hum Mol Genet 10(11):1215-20. 2001
13MYH6, PRKAG2
Identification of a gene responsible for familial Wolff-Parkinson-White syndrome.
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.
N Engl J Med 344(24):1823-31. 2001
14PRKAG2, WPW
Novel PRKAG2 mutation responsible for the genetic syndrome of ventricular preexcitation and conduction system disease with childhood onset and absence of cardiac hypertrophy.
Gollob MH, Seger JJ, Gollob TN, Tapscott T, Gonzales O, Bachinski L, Roberts R.
Circulation 104(25):3030-3. 2001
15PRKAG2, RHEB
Molecular cloning, genomic organization, and mapping of PRKAG2, a heart abundant gamma2 subunit of 5'-AMP-activated protein kinase, to human chromosome 7q36.
Lang T, Yu L, Tu Q, Jiang J, Chen Z, Xin Y, Liu G, Zhao S.
Genomics 70(2):258-63. 2000
16PRKAG1, PRKAG2
Characterization of AMP-activated protein kinase gamma-subunit isoforms and their role in AMP binding.
Cheung PC, Salt IP, Davies SP, Hardie DG, Carling D.
Biochem J 346 Pt 3:659-69. 2000
17PRKAA1, PRKAB1, PRKAG1, PRKAG2, PRKAA2
AMP-activated protein kinase isoenzyme family: subunit structure and chromosomal location.
Stapleton D, Woollatt E, Mitchelhill KI, Nicholl JK, Fernandez CS, Michell BJ, Witters LA, Power DA, Sutherland GR, Kemp BE.
FEBS Lett 409(3):452-6. 1997