Gene Review:
PRKAG2 - protein kinase, AMP-activated, gamma 2 non...
Homo sapiens
Synonyms:
5'-AMP-activated protein kinase subunit gamma-2, AAKG, AAKG2, AMPK gamma2, AMPK subunit gamma-2, ...
- Constitutively active AMP kinase mutations cause glycogen storage disease mimicking hypertrophic cardiomyopathy. Arad, M., Benson, D.W., Perez-Atayde, A.R., McKenna, W.J., Sparks, E.A., Kanter, R.J., McGarry, K., Seidman, J.G., Seidman, C.E. J. Clin. Invest. (2002)
- Adenosine monophosphate-activated protein kinase disease mimicks hypertrophic cardiomyopathy and Wolff-Parkinson-White syndrome: natural history. Murphy, R.T., Mogensen, J., McGarry, K., Bahl, A., Evans, A., Osman, E., Syrris, P., Gorman, G., Farrell, M., Holton, J.L., Hanna, M.G., Hughes, S., Elliott, P.M., Macrae, C.A., McKenna, W.J. J. Am. Coll. Cardiol. (2005)
- Mutation analysis of AMP-activated protein kinase subunits in inherited cardiomyopathies: implications for kinase function and disease pathogenesis. Oliveira, S.M., Ehtisham, J., Redwood, C.S., Ostman-Smith, I., Blair, E.M., Watkins, H. J. Mol. Cell. Cardiol. (2003)
- Identification of a gene responsible for familial Wolff-Parkinson-White syndrome. Gollob, M.H., Green, M.S., Tang, A.S., Gollob, T., Karibe, A., Ali Hassan , A.S., Ahmad, F., Lozado, R., Shah, G., Fananapazir, L., Bachinski, L.L., Roberts, R., Hassan, A.S. N. Engl. J. Med. (2001)
- 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, J.W., Bührer, C., van Landeghem, F.K., Cox, G.F., Wilson, C.J., Grahame Hardie, D., Kilimann, M.W. Am. J. Hum. Genet. (2005)
- Electrophysiologic characterization and postnatal development of ventricular pre-excitation in a mouse model of cardiac hypertrophy and Wolff-Parkinson-White syndrome. Patel, V.V., Arad, M., Moskowitz, I.P., Maguire, C.T., Branco, D., Seidman, J.G., Seidman, C.E., Berul, C.I. J. Am. Coll. Cardiol. (2003)
- Glycogen storage disease as a unifying mechanism of disease in the PRKAG2 cardiac syndrome. Gollob, M.H. Biochem. Soc. Trans. (2003)
- 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 (2000)
- Novel PRKAG2 mutation responsible for the genetic syndrome of ventricular preexcitation and conduction system disease with childhood onset and absence of cardiac hypertrophy. Gollob, M.H., Seger, J.J., Gollob, T.N., Tapscott, T., Gonzales, O., Bachinski, L., Roberts, R. Circulation (2001)
- A new mutation in PRKAG2 gene causing hypertrophic cardiomyopathy with conduction system disease and muscular glycogenosis. Laforêt, P., Richard, P., Said, M.A., Romero, N.B., Lacene, E., Leroy, J.P., Baussan, C., Hogrel, J.Y., Lavergne, T., Wahbi, K., Hainque, B., Duboc, D. Neuromuscul. Disord. (2006)
- Gene mutations in apical hypertrophic cardiomyopathy. Arad, M., Penas-Lado, M., Monserrat, L., Maron, B.J., Sherrid, M., Ho, C.Y., Barr, S., Karim, A., Olson, T.M., Kamisago, M., Seidman, J.G., Seidman, C.E. Circulation (2005)
- Constitutively active adenosine monophosphate-activated protein kinase regulates voltage-gated sodium channels in ventricular myocytes. Light, P.E., Wallace, C.H., Dyck, J.R. Circulation (2003)
- Glycogen storage diseases presenting as hypertrophic cardiomyopathy. Arad, M., Maron, B.J., Gorham, J.M., Johnson, W.H., Saul, J.P., Perez-Atayde, A.R., Spirito, P., Wright, G.B., Kanter, R.J., Seidman, C.E., Seidman, J.G. N. Engl. J. Med. (2005)
- Single-gene mutations and increased left ventricular wall thickness in the community: the Framingham Heart Study. Morita, H., Larson, M.G., Barr, S.C., Vasan, R.S., O'Donnell, C.J., Hirschhorn, J.N., Levy, D., Corey, D., Seidman, C.E., Seidman, J.G., Benjamin, E.J. Circulation (2006)
- Molecular genetic analysis of PRKAG2 in sporadic Wolff-Parkinson-White syndrome. Vaughan, C.J., Hom, Y., Okin, D.A., McDermott, D.A., Lerman, B.B., Basson, C.T. J. Cardiovasc. Electrophysiol. (2003)