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Volumn 35, Issue 10, 2003, Pages 1251-1255

Mutation analysis of AMP-activated protein kinase subunits in inherited cardiomyopathies: Implications for kinase function and disease pathogenesis

Author keywords

AMPK; Cardiomyopathy; Mutation; Wolff Parkinson White

Indexed keywords

HYDROXYMETHYLGLUTARYL COENZYME A REDUCTASE KINASE; PROTEIN KINASE; UNCLASSIFIED DRUG;

EID: 0141569397     PISSN: 00222828     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0022-2828(03)00237-2     Document Type: Article
Times cited : (47)

References (27)
  • 1
    • 0035936792 scopus 로고    scopus 로고
    • The genetic basis for cardiomyopathy: From mutation identification to mechanistic paradigms
    • Seidman J.G., Seidman C. The genetic basis for cardiomyopathy: from mutation identification to mechanistic paradigms. Cell. 104:2001;557-567.
    • (2001) Cell , vol.104 , pp. 557-567
    • Seidman, J.G.1    Seidman, C.2
  • 2
    • 0037630018 scopus 로고    scopus 로고
    • Hypertrophic cardiomyopathy: Distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy
    • Richard P., Charron P., Carrier L., Ledeuil C., Cheav T., Pichereau C., et al. Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy. Circulation. 107:2003;2227-2232.
    • (2003) Circulation , vol.107 , pp. 2227-2232
    • Richard, P.1    Charron, P.2    Carrier, L.3    Ledeuil, C.4    Cheav, T.5    Pichereau, C.6
  • 3
    • 0037407012 scopus 로고    scopus 로고
    • Hypertrophic cardiomyopathy: A paradigm for myocardial energy depletion
    • Ashrafian H., Redwood C., Blair E., Watkins H. Hypertrophic cardiomyopathy: a paradigm for myocardial energy depletion. Trend Genet. 19:2003;263-268.
    • (2003) Trend Genet , vol.19 , pp. 263-268
    • Ashrafian, H.1    Redwood, C.2    Blair, E.3    Watkins, H.4
  • 4
    • 0028070162 scopus 로고
    • Maternally inherited hypertrophic cardiomyopathy due to a novel T-to-C transition at nucleotide 9997 in the mitochondrial tRNA (glycine) gene
    • Merante F., Tein I., Benson L., Robinson B.H. Maternally inherited hypertrophic cardiomyopathy due to a novel T-to-C transition at nucleotide 9997 in the mitochondrial tRNA (glycine) gene. Am J Hum Genet. 55:1994;437-446.
    • (1994) Am J Hum Genet , vol.55 , pp. 437-446
    • Merante, F.1    Tein, I.2    Benson, L.3    Robinson, B.H.4
  • 5
    • 0342700237 scopus 로고    scopus 로고
    • Recent advances in the molecular pathogenesis of Friedreich ataxia
    • Puccio H., Koenig M. Recent advances in the molecular pathogenesis of Friedreich ataxia. Hum Mol Genet. 9:2000;887-892.
    • (2000) Hum Mol Genet , vol.9 , pp. 887-892
    • Puccio, H.1    Koenig, M.2
  • 6
    • 0030971880 scopus 로고    scopus 로고
    • Is CD36 deficiency an etiology of hereditary hypertrophic cardiomyopathy?
    • Tanaka T., Sohmiya K., Kawamura K. Is CD36 deficiency an etiology of hereditary hypertrophic cardiomyopathy? J Mol Cell Cardiol. 29:1997;121-127.
    • (1997) J Mol Cell Cardiol , vol.29 , pp. 121-127
    • Tanaka, T.1    Sohmiya, K.2    Kawamura, K.3
  • 7
    • 0029078041 scopus 로고
    • Purification of human very-long-chain acyl-coenzyme A dehydrogenase and characterization of its deficiency in seven patients
    • Aoyama T., Souri M., Ushikubo S., Kamijo T., Yamaguchi S., Kelley R.I., et al. Purification of human very-long-chain acyl-coenzyme A dehydrogenase and characterization of its deficiency in seven patients. J Clin Invest. 95:1995;2465-2473.
    • (1995) J Clin Invest , vol.95 , pp. 2465-2473
    • Aoyama, T.1    Souri, M.2    Ushikubo, S.3    Kamijo, T.4    Yamaguchi, S.5    Kelley, R.I.6
  • 8
    • 0029143611 scopus 로고
    • Familial hypertrophic cardiomyopathy with Wolff-Parkinson-White syndrome maps to a locus on chromosome 7q3
    • MacRae C.A., Ghaisas N., Kass S., Donnelly S., Basson C.T., Watkins H.C., et al. Familial hypertrophic cardiomyopathy with Wolff-Parkinson-White syndrome maps to a locus on chromosome 7q3. J Clin Invest. 96:1995;1216-1220.
    • (1995) J Clin Invest , vol.96 , pp. 1216-1220
    • MacRae, C.A.1    Ghaisas, N.2    Kass, S.3    Donnelly, S.4    Basson, C.T.5    Watkins, H.C.6
  • 9
    • 0034541333 scopus 로고    scopus 로고
    • 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., 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. 70:2000;258-263.
    • (2000) Genomics , vol.70 , pp. 258-263
    • Lang, T.1    Yu, L.2    Tu, Q.3    Jiang, J.4    Chen, Z.5    Xin, Y.6
  • 10
    • 0035872209 scopus 로고    scopus 로고
    • 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., 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. 10:2001;1215-1220.
    • (2001) Hum Mol Genet , vol.10 , pp. 1215-1220
    • Blair, E.1    Redwood, C.2    Ashrafian, H.3    Oliveira, M.4    Broxholme, J.5    Kerr, B.6
  • 11
    • 0035859215 scopus 로고    scopus 로고
    • 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., et al. Identification of a gene responsible for familial Wolff-Parkinson-White syndrome. New Engl J M. 344:2001;1823-1831.
    • (2001) New Engl J M , vol.344 , pp. 1823-1831
    • Gollob, M.H.1    Green, M.S.2    Tang, A.S.3    Gollob, T.4    Karibe, A.5    Ali Hassan, A.S.6
  • 12
    • 0035910109 scopus 로고    scopus 로고
    • 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., 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. 104:2001;3030-3033.
    • (2001) Circulation , vol.104 , pp. 3030-3033
    • Gollob, M.H.1    Seger, J.J.2    Gollob, T.N.3    Tapscott, T.4    Gonzales, O.5    Bachinski, L.6
  • 13
    • 0036167225 scopus 로고    scopus 로고
    • 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., et al. Constitutively active AMP kinase mutations cause glycogen storage disease mimicking hypertrophic cardiomyopathy. J Clin Invest. 109:2002;357-362.
    • (2002) J Clin Invest , vol.109 , pp. 357-362
    • Arad, M.1    Benson, D.W.2    Perez-Atayde, A.R.3    McKenna, W.J.4    Sparks, E.A.5    Kanter, R.J.6
  • 14
    • 0031007065 scopus 로고    scopus 로고
    • The AMP-activated protein kinase: Fuel gauge of the mammalian cell?
    • Hardie D.G., Carling D. The AMP-activated protein kinase: fuel gauge of the mammalian cell? Eur J Biochem. 246:1997;259-273.
    • (1997) Eur J Biochem , vol.246 , pp. 259-273
    • Hardie, D.G.1    Carling, D.2
  • 15
    • 0035542970 scopus 로고    scopus 로고
    • AMP-activated protein kinase: The energy charge hypothesis revisited
    • Hardie D.G., Hawley S.A. AMP-activated protein kinase: the energy charge hypothesis revisited. Bioessays. 23:2001;1112-1119.
    • (2001) Bioessays , vol.23 , pp. 1112-1119
    • Hardie, D.G.1    Hawley, S.A.2
  • 16
    • 0038814313 scopus 로고    scopus 로고
    • A novel domain in AMP-activated protein kinase causes glycogen storage bodies similar to those seen in hereditary cardiac arrhythmias
    • Hudson E.R., Pan D.A., James J., Lucocq J.M., Hawley S.A., Green K.A., et al. A novel domain in AMP-activated protein kinase causes glycogen storage bodies similar to those seen in hereditary cardiac arrhythmias. Curr Biol. 13:2003;861-866.
    • (2003) Curr Biol , vol.13 , pp. 861-866
    • Hudson, E.R.1    Pan, D.A.2    James, J.3    Lucocq, J.M.4    Hawley, S.A.5    Green, K.A.6
  • 18
    • 0034654362 scopus 로고    scopus 로고
    • Characterization of AMP-activated protein kinase gamma-subunit isoforms and their role in AMP binding
    • Cheung P.C., Salt I.P., Davies S.P., Hardie D.G., Carling D. Characterization of AMP-activated protein kinase gamma-subunit isoforms and their role in AMP binding. Biochem J. 346:2000;659-669.
    • (2000) Biochem J , vol.346 , pp. 659-669
    • Cheung, P.C.1    Salt, I.P.2    Davies, S.P.3    Hardie, D.G.4    Carling, D.5
  • 19
    • 0031016272 scopus 로고    scopus 로고
    • The structure of a domain common to archaebacteria and the homocystinuria disease protein
    • Bateman A. The structure of a domain common to archaebacteria and the homocystinuria disease protein. Trend Biochem Sci. 22:1997;12-13.
    • (1997) Trend Biochem Sci , vol.22 , pp. 12-13
    • Bateman, A.1
  • 20
    • 0035807013 scopus 로고    scopus 로고
    • Regulation of human cystathionine beta-synthase by S-adenosyl-L-methionine: Evidence for two catalytically active conformations involving an autoinhibitory domain in the C-terminal region
    • Janosik M., Kery V., Gaustadnes M., Maclean K.N., Kraus J.P. Regulation of human cystathionine beta-synthase by S-adenosyl-L-methionine: evidence for two catalytically active conformations involving an autoinhibitory domain in the C-terminal region. Biochemistry. 40:2001;10625-10633.
    • (2001) Biochemistry , vol.40 , pp. 10625-10633
    • Janosik, M.1    Kery, V.2    Gaustadnes, M.3    Maclean, K.N.4    Kraus, J.P.5
  • 23
    • 0037185021 scopus 로고    scopus 로고
    • Functional analysis of mutations in the gamma 2 subunit of AMP-activated protein kinase associated with cardiac hypertrophy and Wolff-Parkinson-White syndrome
    • Daniel T., Carling D. Functional analysis of mutations in the gamma 2 subunit of AMP-activated protein kinase associated with cardiac hypertrophy and Wolff-Parkinson-White syndrome. J Biol Chem. 277:2002;51017-51024.
    • (2002) J Biol Chem , vol.277 , pp. 51017-51024
    • Daniel, T.1    Carling, D.2
  • 24
    • 0033118209 scopus 로고    scopus 로고
    • Glucose repression in yeast
    • Carlson M. Glucose repression in yeast. Curr Opin Microbiol. 2:1999;202-207.
    • (1999) Curr Opin Microbiol , vol.2 , pp. 202-207
    • Carlson, M.1
  • 26
    • 0034685949 scopus 로고    scopus 로고
    • A mutation in PRKAG3 associated with excess glycogen content in pig skeletal muscle
    • Milan D., Jeon J.T., Looft C., Amarger V., Robic A., Thelander M., et al. A mutation in PRKAG3 associated with excess glycogen content in pig skeletal muscle. Science. 288:2000;1248-1251.
    • (2000) Science , vol.288 , pp. 1248-1251
    • Milan, D.1    Jeon, J.T.2    Looft, C.3    Amarger, V.4    Robic, A.5    Thelander, M.6
  • 27
    • 0033551092 scopus 로고    scopus 로고
    • Characteristics and crystal structure of bacterial inosine-5′ -monophosphate dehydrogenase
    • Zhang R., Evans G., Rotella F., Westbrook E., Beno D., Huberman Eliezer, et al. Characteristics and crystal structure of bacterial inosine-5′ -monophosphate dehydrogenase. Biochemistry. 38:1999;4691-4700.
    • (1999) Biochemistry , vol.38 , pp. 4691-4700
    • Zhang, R.1    Evans, G.2    Rotella, F.3    Westbrook, E.4    Beno, D.5    Huberman Eliezer6


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