메뉴 건너뛰기




Volumn 2, Issue 9, 2007, Pages

Gain-of-function R225W mutation in human AMPKγ3 causing increased glycogen and decreased triglyceride in skeletal muscle

Author keywords

[No Author keywords available]

Indexed keywords

GLYCOGEN; HYDROXYMETHYLGLUTARYL COENZYME A REDUCTASE KINASE; INSULIN; TRIACYLGLYCEROL; PRIMER DNA;

EID: 41249096989     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0000903     Document Type: Article
Times cited : (75)

References (41)
  • 1
    • 0035816114 scopus 로고    scopus 로고
    • An activating mutation in the gamma1 subunit of the AMP-activated protein kinase
    • Hamilton SR, Stapleton D, O'Donnell JB Jr, Kung JT, Dalal SR, et al. (2001) An activating mutation in the gamma1 subunit of the AMP-activated protein kinase. FEBS Lett 500: 163-168.
    • (2001) FEBS Lett , vol.500 , pp. 163-168
    • Hamilton, S.R.1    Stapleton, D.2    O'Donnell Jr, J.B.3    Kung, J.T.4    Dalal, S.R.5
  • 2
    • 18944396765 scopus 로고    scopus 로고
    • Fatal congenital heart glycogenosis caused by a recurrent activating R531Q, mutation in the gamma 2-subunit of AMP-activatcd protein kinase (PRKAG2), not by phosphorylase kinase deficiency
    • Burwinkel B, Scott JW, Buhrer C, van Landeghern FK, Cox GF, et al. (2005) Fatal congenital heart glycogenosis caused by a recurrent activating R531Q, mutation in the gamma 2-subunit of AMP-activatcd protein kinase (PRKAG2), not by phosphorylase kinase deficiency Am J Hum Genet 76: 1034-1049.
    • (2005) Am J Hum Genet , vol.76 , pp. 1034-1049
    • Burwinkel, B.1    Scott, J.W.2    Buhrer, C.3    van Landeghern, F.K.4    Cox, G.F.5
  • 3
    • 85047691317 scopus 로고    scopus 로고
    • CBS domains form energy-sensing modules whose binding of adenosine ligands is disrupted by disease mutations
    • Scott JW, Hawley SA, Green KA, Anis M, Stewart G, et al. (2004) CBS domains form energy-sensing modules whose binding of adenosine ligands is disrupted by disease mutations. J Clin Invest 113: 274-284.
    • (2004) J Clin Invest , vol.113 , pp. 274-284
    • Scott, J.W.1    Hawley, S.A.2    Green, K.A.3    Anis, M.4    Stewart, G.5
  • 4
    • 0031007065 scopus 로고    scopus 로고
    • The AMP-activated protein kinase-fuel gauge of the mammalian cell?
    • Hardie DG, Carling, D (1997) The AMP-activated protein kinase-fuel gauge of the mammalian cell? Eur J Biochem 246: 259-273.
    • (1997) Eur J Biochem , vol.246 , pp. 259-273
    • Hardie, D.G.1    Carling, D.2
  • 5
    • 20844451123 scopus 로고    scopus 로고
    • AMP-activated protein kinase: Ancient energy gauge provides clues to modern understanding of metabolism
    • Kahn BB, Alquier T, Carling D, Hardie DG (2005) AMP-activated protein kinase: ancient energy gauge provides clues to modern understanding of metabolism. Cell Metab 1: 15-25.
    • (2005) Cell Metab , vol.1 , pp. 15-25
    • Kahn, B.B.1    Alquier, T.2    Carling, D.3    Hardie, D.G.4
  • 6
    • 33644943620 scopus 로고    scopus 로고
    • AMPK: A key sensor of fuel and energy status in skeletal muscle
    • Hardie DG, Sakamoto K (2006) AMPK: a key sensor of fuel and energy status in skeletal muscle. Physiology (Bethesda) 21: 48-60.
    • (2006) Physiology (Bethesda) , vol.21 , pp. 48-60
    • Hardie, D.G.1    Sakamoto, K.2
  • 7
    • 4644309036 scopus 로고    scopus 로고
    • The 5′- AMP-activated protein kinase gamma3 isoform has a key role in carbohydrate and lipid metabolism in glycolytic skeletal muscle
    • Barnes BR, Marklund S, Steiler TL, Walter M, Hjalm, G, et al. (2004) The 5′- AMP-activated protein kinase gamma3 isoform has a key role in carbohydrate and lipid metabolism in glycolytic skeletal muscle. J Biol Chem 279: 38441-38447.
    • (2004) J Biol Chem , vol.279 , pp. 38441-38447
    • Barnes, B.R.1    Marklund, S.2    Steiler, T.L.3    Walter, M.4    Hjalm, G.5
  • 8
    • 0035029874 scopus 로고    scopus 로고
    • Effect of 5-aminoimidazole-4-carboxamide-1-beta-D-ribofuranoside infusion on in vivo glucose and lipid metabolism in lean and obese Zucker rats
    • Bergeron R, Previs SF, Cline GW, Perret P, Russell RR 3rd, et al. (2001) Effect of 5-aminoimidazole-4-carboxamide-1-beta-D-ribofuranoside infusion on in vivo glucose and lipid metabolism in lean and obese Zucker rats. Diabetes 50: 1076-1082.
    • (2001) Diabetes , vol.50 , pp. 1076-1082
    • Bergeron, R.1    Previs, S.F.2    Cline, G.W.3    Perret, P.4    Russell 3rd, R.R.5
  • 9
    • 0036307179 scopus 로고    scopus 로고
    • Long-term AICAR administration reduces metabolic disturbances and lowers blood pressure in rats displaying features of the insulin resistance syndrome
    • Buhl ES, Jessen N, Pold R, Ledet T, Flyvbjerg A, et al. (2002) Long-term AICAR administration reduces metabolic disturbances and lowers blood pressure in rats displaying features of the insulin resistance syndrome. Diabetes 51: 2199-2206.
    • (2002) Diabetes , vol.51 , pp. 2199-2206
    • Buhl, E.S.1    Jessen, N.2    Pold, R.3    Ledet, T.4    Flyvbjerg, A.5
  • 10
    • 0035155821 scopus 로고    scopus 로고
    • Chronic treatment with 5-aminoimidazole-4-carboxamide-1-beta-D-ribofuranoside increases insulin-stimulated glucose uptake and GLUT4 translocation in rat skeletal muscles in a fiber type-specific manner
    • Buhl ES, Jessen N, Schmitz O, Pedersen SB, Pedersen O, et al. (2001) Chronic treatment with 5-aminoimidazole-4-carboxamide-1-beta-D-ribofuranoside increases insulin-stimulated glucose uptake and GLUT4 translocation in rat skeletal muscles in a fiber type-specific manner. Diabetes 50: 12-17.
    • (2001) Diabetes , vol.50 , pp. 12-17
    • Buhl, E.S.1    Jessen, N.2    Schmitz, O.3    Pedersen, S.B.4    Pedersen, O.5
  • 11
    • 0032792665 scopus 로고    scopus 로고
    • AMP-activated protein kinase, a metabolic master switch: Possible roles in type 2 diabetes
    • Winder WW, Hardie DG (1999) AMP-activated protein kinase, a metabolic master switch: possible roles in type 2 diabetes. Am J Physiol 277: E1-10.
    • (1999) Am J Physiol , vol.277
    • Winder, W.W.1    Hardie, D.G.2
  • 12
    • 0347318052 scopus 로고    scopus 로고
    • The AMP-activated protein kinase cascade-a unifying system for energy control
    • Carling D (2004) The AMP-activated protein kinase cascade-a unifying system for energy control. Trends Biochem Sci 29: 18-24.
    • (2004) Trends Biochem Sci , vol.29 , pp. 18-24
    • Carling, D.1
  • 13
    • 0032567252 scopus 로고    scopus 로고
    • Functional domains of the alpha1 catalytic subunit of the AMP-activated protein kinase
    • Crute BE, Seefeld K, Gamble J, Kemp BE, Witters LA (1998) Functional domains of the alpha1 catalytic subunit of the AMP-activated protein kinase. J Biol Chem 273: 35347-35354.
    • (1998) J Biol Chem , vol.273 , pp. 35347-35354
    • Crute, B.E.1    Seefeld, K.2    Gamble, J.3    Kemp, B.E.4    Witters, L.A.5
  • 14
    • 0942265675 scopus 로고    scopus 로고
    • Expression profiling of the gamma-subunit isoforms of AMP-activated protein kinase suggests a major role for gamma3 in white skeletal muscle
    • Mahlapuu M, Johansson C, Lindgren K, Hjalm G, Barnes BR, et al. (2004) Expression profiling of the gamma-subunit isoforms of AMP-activated protein kinase suggests a major role for gamma3 in white skeletal muscle. Am J Physiol Endocrinol Metab 286: E194-200.
    • (2004) Am J Physiol Endocrinol Metab , vol.286
    • Mahlapuu, M.1    Johansson, C.2    Lindgren, K.3    Hjalm, G.4    Barnes, B.R.5
  • 15
    • 17844400342 scopus 로고    scopus 로고
    • 5′ AMP activated protein kinase expression in human skeletal muscle: Effects of strength training and type 2 diabetes
    • Wojtaszewski JF, Birk JB, Frosig C, Holten M, Pilegaard H, et al. (2005) 5′ AMP activated protein kinase expression in human skeletal muscle: effects of strength training and type 2 diabetes. J Physiol 564: 563-573.
    • (2005) J Physiol , vol.564 , pp. 563-573
    • Wojtaszewski, J.F.1    Birk, J.B.2    Frosig, C.3    Holten, M.4    Pilegaard, H.5
  • 16
    • 1442276288 scopus 로고    scopus 로고
    • 5′-AMP-activated protein kinase activity and protein expression are regulated by endurance training in human skeletal muscle
    • Frosig C, Jorgensen SB, Hardie DG, Richter EA, Wojtaszewski JF (2004) 5′-AMP-activated protein kinase activity and protein expression are regulated by endurance training in human skeletal muscle. Am J Physiol Endocrinol Metab 286: E411-417.
    • (2004) Am J Physiol Endocrinol Metab , vol.286
    • Frosig, C.1    Jorgensen, S.B.2    Hardie, D.G.3    Richter, E.A.4    Wojtaszewski, J.F.5
  • 17
    • 0037311651 scopus 로고    scopus 로고
    • 5′-AMP-activated protein kinase activity and subunit expression in exercise-trained human skeletal muscle
    • Nielsen JN, Mustard EJ, Graham DA, Yu H, MacDonald CS, et al. (2003) 5′-AMP-activated protein kinase activity and subunit expression in exercise-trained human skeletal muscle. J Appl Physiol 94: 631-641.
    • (2003) J Appl Physiol , vol.94 , pp. 631-641
    • Nielsen, J.N.1    Mustard, E.J.2    Graham, D.A.3    Yu, H.4    MacDonald, C.S.5
  • 18
    • 33845332346 scopus 로고    scopus 로고
    • Predominant alpha2/beta2/gamma3 AMPK activation during exercise in human skeletal muscle
    • Birk JB, Wojtaszewski JF (2006) Predominant alpha2/beta2/gamma3 AMPK activation during exercise in human skeletal muscle. J Physiol 577: 1021-1032.
    • (2006) J Physiol , vol.577 , pp. 1021-1032
    • Birk, J.B.1    Wojtaszewski, J.F.2
  • 19
    • 0034654362 scopus 로고    scopus 로고
    • 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 (2000) Characterization of AMP-activated protein kinase gamma-subunit isoforms and their role in AMP binding. Biochem J 346 Pt 3: 659-669.
    • (2000) Biochem J , vol.346 , Issue.PART 3 , pp. 659-669
    • Cheung, P.C.1    Salt, I.P.2    Davies, S.P.3    Hardie, D.G.4    Carling, D.5
  • 20
    • 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, et al. (2000) 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: 258-263.
    • (2000) Genomics , vol.70 , pp. 258-263
    • Lang, T.1    Yu, L.2    Tu, Q.3    Jiang, J.4    Chen, Z.5
  • 21
    • 0035910109 scopus 로고    scopus 로고
    • Novel PRKAG2 mutation responsible for the genetic syndrome of ventricular preexcitadon and conduction system disease with childhood onset and absence of cardiac hypertrophy
    • Gollob MH, Seger JJ, Gollob TN, Tapscott T, Gonzales O, et al. (2001) Novel PRKAG2 mutation responsible for the genetic syndrome of ventricular preexcitadon and conduction system disease with childhood onset and absence of cardiac hypertrophy. Circulation 104: 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
  • 22
    • 33745204925 scopus 로고    scopus 로고
    • Dyck JRB, Lopaschuk GD (2006) AMPK alterations in cardiac physiology and pathology: enemy or Ally? J Physiol (Lond):. pp jphysiol.2006.109389.
    • Dyck JRB, Lopaschuk GD (2006) AMPK alterations in cardiac physiology and pathology: enemy or Ally? J Physiol (Lond):. pp jphysiol.2006.109389.
  • 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 (2002) 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: 51017-51024.
    • (2002) J Biol Chem , vol.277 , pp. 51017-51024
    • Daniel, T.1    Carling, D.2
  • 24
    • 0035859215 scopus 로고    scopus 로고
    • Identification of a gene responsible for familial Wolff-Parkinson-White syndrome
    • Gollob MH, Green MS, Tang AS, Gollob T, Karibe A, et al. (2001) Identification of a gene responsible for familial Wolff-Parkinson-White syndrome. N Engl J Med 344: 1823-1831.
    • (2001) N Engl J Med , vol.344 , pp. 1823-1831
    • Gollob, M.H.1    Green, M.S.2    Tang, A.S.3    Gollob, T.4    Karibe, A.5
  • 25
    • 0036167225 scopus 로고    scopus 로고
    • Constitutively active AMP kinase mutations cause glycogen storage disease mimicking hypertrophic cardiomyopathy
    • Arad M, Benson DW, Perez-Atayde AR, McKenna WJ, Sparks EA, et al. (2002) Constitutively active AMP kinase mutations cause glycogen storage disease mimicking hypertrophic cardiomyopathy. J Clin Invest 109: 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
  • 26
    • 0034685949 scopus 로고    scopus 로고
    • A mutation in PRKAG3 associated with excess glycogen content in pig skeletal muscle
    • Milan D, Jeon JT, Looft C, Amarger V, Robic A, et al. (2000) A mutation in PRKAG3 associated with excess glycogen content in pig skeletal muscle. Science 288: 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
  • 29
    • 0036713510 scopus 로고    scopus 로고
    • Human non-synonymous SNPs: Server and survey
    • Ramensky V, Bork P, Sunyaev S (2002) Human non-synonymous SNPs: server and survey. Nucleic Acids Res 30: 3894-3900.
    • (2002) Nucleic Acids Res , vol.30 , pp. 3894-3900
    • Ramensky, V.1    Bork, P.2    Sunyaev, S.3
  • 30
    • 0036119504 scopus 로고    scopus 로고
    • Accounting for human polymorphisins predicted to affect protein function
    • Ng PC, Henikoff S (2002) Accounting for human polymorphisins predicted to affect protein function. Genome Res 12: 436-446.
    • (2002) Genome Res , vol.12 , pp. 436-446
    • Ng, P.C.1    Henikoff, S.2
  • 31
    • 0025261698 scopus 로고
    • Precipitation of proteins with polyethylene glycol
    • Ingham KC (1990) Precipitation of proteins with polyethylene glycol. Methods Enzymol 182: 301-306.
    • (1990) Methods Enzymol , vol.182 , pp. 301-306
    • Ingham, K.C.1
  • 32
    • 0033648637 scopus 로고    scopus 로고
    • Analysis of the role of the AMP-activated protein kinase in the response to cellular stress
    • Hardie DG, Salt IP, Davies SP (2000) Analysis of the role of the AMP-activated protein kinase in the response to cellular stress. Methods Mol Biol 99: 63-74.
    • (2000) Methods Mol Biol , vol.99 , pp. 63-74
    • Hardie, D.G.1    Salt, I.P.2    Davies, S.P.3
  • 33
    • 0024839973 scopus 로고
    • Tissue distribution of die AMP-activated protein kinase, and lack of activation by cyclic-AMP-dependent protein kinase, studied using a specific and sensitive peptide assay
    • Davies SP, Carling D, Hardie DG (1989) Tissue distribution of die AMP-activated protein kinase, and lack of activation by cyclic-AMP-dependent protein kinase, studied using a specific and sensitive peptide assay. Eur J Biochem 186: 125-128.
    • (1989) Eur J Biochem , vol.186 , pp. 125-128
    • Davies, S.P.1    Carling, D.2    Hardie, D.G.3
  • 34
    • 0037328991 scopus 로고    scopus 로고
    • Identification and characterization of AMPK gamma 3 mutations in the pig
    • Andersson L (2003) Identification and characterization of AMPK gamma 3 mutations in the pig. Biochem Soc Trans 31: 232-235.
    • (2003) Biochem Soc Trans , vol.31 , pp. 232-235
    • Andersson, L.1
  • 35
    • 3543052953 scopus 로고    scopus 로고
    • UDP-glucose pyrophosphorylase is upregulated in carriers of the porcine RN- mutation in the AMP-activated protein kinase
    • Hedegaard J, Horn P, Lametsch R, Sondergaard Moller H, Roepstorff P, et al. (2004) UDP-glucose pyrophosphorylase is upregulated in carriers of the porcine RN- mutation in the AMP-activated protein kinase. Proteomics 4: 2448-2454.
    • (2004) Proteomics , vol.4 , pp. 2448-2454
    • Hedegaard, J.1    Horn, P.2    Lametsch, R.3    Sondergaard Moller, H.4    Roepstorff, P.5
  • 36
    • 33748443452 scopus 로고    scopus 로고
    • Musclespecific overexpression of wild type and R225Q mutant AMP-activated protein kinase gamma3-subunit differentially regulates glycogen accumulation
    • Yu H, Hirshman MF, Fujii N, Pomerleau JM, Peter LE, et al. (2006) Musclespecific overexpression of wild type and R225Q mutant AMP-activated protein kinase gamma3-subunit differentially regulates glycogen accumulation. Am J Physiol Endocrinol Metab 291: E557-565.
    • (2006) Am J Physiol Endocrinol Metab , vol.291
    • Yu, H.1    Hirshman, M.F.2    Fujii, N.3    Pomerleau, J.M.4    Peter, L.E.5
  • 37
    • 33751195101 scopus 로고    scopus 로고
    • AMP-activated protein kinase and the regulation of glucose transport
    • Fujii N, Jessen N, Goodyear LJ (2006) AMP-activated protein kinase and the regulation of glucose transport. Am J Physiol Endocrinol Metab 291: E867-877.
    • (2006) Am J Physiol Endocrinol Metab , vol.291
    • Fujii, N.1    Jessen, N.2    Goodyear, L.J.3
  • 38
    • 33644701630 scopus 로고    scopus 로고
    • Changes in Exercise-Induced Gene Expression in 5′-AMP-Activatcd Protein Kinase {gamma}3-Null and {gamma}3 R225Q Transgenic Mice
    • Barnes BR, Long YC, Steiler TL, Leng Y, Galuska D, et al. (2005) Changes in Exercise-Induced Gene Expression in 5′-AMP-Activatcd Protein Kinase {gamma}3-Null and {gamma}3 R225Q Transgenic Mice. Diabetes 54: 3484-3489.
    • (2005) Diabetes , vol.54 , pp. 3484-3489
    • Barnes, B.R.1    Long, Y.C.2    Steiler, T.L.3    Leng, Y.4    Galuska, D.5
  • 39
    • 0034773404 scopus 로고    scopus 로고
    • Role of AMP-activated protein kinase in mechanism of metformin action
    • Zhou G, Myers R, Li Y, Chen Y, Shen Y, et al. (2001) Role of AMP-activated protein kinase in mechanism of metformin action. J Clin Invest 108: 1167-1174.
    • (2001) J Clin Invest , vol.108 , pp. 1167-1174
    • Zhou, G.1    Myers, R.2    Li, Y.3    Chen, Y.4    Shen, Y.5
  • 40
    • 0037067666 scopus 로고    scopus 로고
    • The Anti-diabetic drugs rosiglitazone and metformin stimulate AMP-activated protein kinase through distinct signaling pathways
    • Fryer LG, Parbu-Patel A, Carling D (2002) The Anti-diabetic drugs rosiglitazone and metformin stimulate AMP-activated protein kinase through distinct signaling pathways. J Biol Chem 277: 25226-25232.
    • (2002) J Biol Chem , vol.277 , pp. 25226-25232
    • Fryer, L.G.1    Parbu-Patel, A.2    Carling, D.3
  • 41
    • 0036299982 scopus 로고    scopus 로고
    • Metformin increases AMP-activated protein kinase activity in skeletal muscle of subjects with type 2 diabetes
    • Musi N, Hirshman MF, Nygren J, Svanfeldt M, Bavenholm P, et al. (2002) Metformin increases AMP-activated protein kinase activity in skeletal muscle of subjects with type 2 diabetes. Diabetes 51: 2074-2081.
    • (2002) Diabetes , vol.51 , pp. 2074-2081
    • Musi, N.1    Hirshman, M.F.2    Nygren, J.3    Svanfeldt, M.4    Bavenholm, P.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.