-
1
-
-
0035936792
-
The genetic basis for cardiomyopathy: From mutation identification to mechanistic paradigms
-
Seidman JG, Seidman C, (2001) The genetic basis for cardiomyopathy: From mutation identification to mechanistic paradigms. Cell 104: 557-567.
-
(2001)
Cell
, vol.104
, pp. 557-567
-
-
Seidman, J.G.1
Seidman, C.2
-
2
-
-
79953037494
-
Identifying sarcomere gene mutations in hypertrophic cardiomyopathy: A personal history
-
Seidman C, Seidman J, (2011) Identifying sarcomere gene mutations in hypertrophic cardiomyopathy: A personal history. Circ Res 108: 743-750.
-
(2011)
Circ Res
, vol.108
, pp. 743-750
-
-
Seidman, C.1
Seidman, J.2
-
3
-
-
33846258418
-
Is there a common genetic basis for all familial cardiomyopathies?
-
Perrot A, Dietz R, Osterziel K, (2007) Is there a common genetic basis for all familial cardiomyopathies? Eur J Heart Fail 9: 4-6.
-
(2007)
Eur J Heart Fail
, vol.9
, pp. 4-6
-
-
Perrot, A.1
Dietz, R.2
Osterziel, K.3
-
4
-
-
18744433901
-
Alpha-cardiac actin is a novel disease gene in familial hypertrophic cardiomyopathy
-
Mogensen J, Klausen IC, Pedersen AK, Egeblad H, Bross P, et al. (1999) Alpha-cardiac actin is a novel disease gene in familial hypertrophic cardiomyopathy. J Clin Invest 103: R39-43.
-
(1999)
J Clin Invest
, vol.103
-
-
Mogensen, J.1
Klausen, I.C.2
Pedersen, A.K.3
Egeblad, H.4
Bross, P.5
-
5
-
-
0032076955
-
Actin mutations in dilated cardiomyopathy, a heritable form of heart failure
-
Olson TM, Michels VV, Thibodeau SN, Tai YS, Keating MT, (1998) Actin mutations in dilated cardiomyopathy, a heritable form of heart failure. Science 280: 750-752.
-
(1998)
Science
, vol.280
, pp. 750-752
-
-
Olson, T.M.1
Michels, V.V.2
Thibodeau, S.N.3
Tai, Y.S.4
Keating, M.T.5
-
6
-
-
42949149810
-
Shared genetic causes of cardiac hypertrophy in children and adults
-
Morita H, Rehm HL, Menesses A, McDonough B, Roberts AE, et al. (2008) Shared genetic causes of cardiac hypertrophy in children and adults. N Engl J Med 358: 1899-1908.
-
(2008)
N Engl J Med
, vol.358
, pp. 1899-1908
-
-
Morita, H.1
Rehm, H.L.2
Menesses, A.3
McDonough, B.4
Roberts, A.E.5
-
7
-
-
44949259297
-
Myofilament protein gene mutation screening and outcome of patients with hypertrophic cardiomyopathy
-
Olivotto I, Girolami F, Ackerman MJ, Nistri S, Bos JM, et al. (2008) Myofilament protein gene mutation screening and outcome of patients with hypertrophic cardiomyopathy. Mayo Clin Proc 83: 630-638.
-
(2008)
Mayo Clin Proc
, vol.83
, pp. 630-638
-
-
Olivotto, I.1
Girolami, F.2
Ackerman, M.J.3
Nistri, S.4
Bos, J.M.5
-
8
-
-
77949902017
-
Prevalence of sarcomere protein gene mutations in preadolescent children with hypertrophic cardiomyopathy
-
Kaski JP, Syrris P, Esteban MT, Jenkins S, Pantazis A, et al. (2009) Prevalence of sarcomere protein gene mutations in preadolescent children with hypertrophic cardiomyopathy. Circ Cardiovasc Genet 2: 436-441.
-
(2009)
Circ Cardiovasc Genet
, vol.2
, pp. 436-441
-
-
Kaski, J.P.1
Syrris, P.2
Esteban, M.T.3
Jenkins, S.4
Pantazis, A.5
-
9
-
-
0033799445
-
Inherited and de novo mutations in the cardiac actin gene cause hypertrophic cardiomyopathy
-
Olson TM, Doan TP, Kishimoto NY, Whitby FG, Ackerman MJ, et al. (2000) Inherited and de novo mutations in the cardiac actin gene cause hypertrophic cardiomyopathy. J Mol Cell Cardiol 32: 1687-1694.
-
(2000)
J Mol Cell Cardiol
, vol.32
, pp. 1687-1694
-
-
Olson, T.M.1
Doan, T.P.2
Kishimoto, N.Y.3
Whitby, F.G.4
Ackerman, M.J.5
-
10
-
-
77957793677
-
Structural basis for actin assembly, activation of ATP hydrolysis, and delayed phosphate release
-
Murakami K, Yasunaga T, Noguchi TQ, Gomibuchi Y, Ngo KX, et al. (2010) Structural basis for actin assembly, activation of ATP hydrolysis, and delayed phosphate release. Cell 143: 275-287.
-
(2010)
Cell
, vol.143
, pp. 275-287
-
-
Murakami, K.1
Yasunaga, T.2
Noguchi, T.Q.3
Gomibuchi, Y.4
Ngo, K.X.5
-
11
-
-
77955477761
-
A nucleotide state sensing region on actin
-
Kudryashov D, Grintsevich E, Rubenstein P, Reisler E, (2010) A nucleotide state sensing region on actin. J Biol Chem 285: 25591-25601.
-
(2010)
J Biol Chem
, vol.285
, pp. 25591-25601
-
-
Kudryashov, D.1
Grintsevich, E.2
Rubenstein, P.3
Reisler, E.4
-
12
-
-
25144447842
-
Unfolding energetics of G-alpha-actin: A discrete intermediate can be re-folded to the native state by CCT
-
Altschuler GM, Klug DR, Willison KR, (2005) Unfolding energetics of G-alpha-actin: A discrete intermediate can be re-folded to the native state by CCT. J Mol Biol 353: 385-396.
-
(2005)
J Mol Biol
, vol.353
, pp. 385-396
-
-
Altschuler, G.M.1
Klug, D.R.2
Willison, K.R.3
-
13
-
-
0000186456
-
Thermal unfolding of G-actin monitored with the DNase I-inhibition assay stabilities of actin isoforms
-
Schuler H, Lindberg U, Schutt CE, Karlsson R, (2000) Thermal unfolding of G-actin monitored with the DNase I-inhibition assay stabilities of actin isoforms. Eur J Biochem 267: 476-486.
-
(2000)
Eur J Biochem
, vol.267
, pp. 476-486
-
-
Schuler, H.1
Lindberg, U.2
Schutt, C.E.3
Karlsson, R.4
-
14
-
-
34147150069
-
A high-throughput assay shows that DNase-I binds actin monomers and polymers with similar affinity
-
Morrison S, Dawson J, (2007) A high-throughput assay shows that DNase-I binds actin monomers and polymers with similar affinity. Anal Biochem 364: 159-164.
-
(2007)
Anal Biochem
, vol.364
, pp. 159-164
-
-
Morrison, S.1
Dawson, J.2
-
15
-
-
51549102022
-
The real-time monitoring of the thermal unfolding of tetramethylrhodamine-labeled actin
-
Perieteanu AA, Dawson JF, (2008) The real-time monitoring of the thermal unfolding of tetramethylrhodamine-labeled actin. Biochemistry 47: 9688-9696.
-
(2008)
Biochemistry
, vol.47
, pp. 9688-9696
-
-
Perieteanu, A.A.1
Dawson, J.F.2
-
16
-
-
0027254871
-
Kinetic study of the thermal denaturation of G actin using differential scanning calorimetry and intrinsic fluorescence spectroscopy
-
Le Bihan T, Gicquaud C, (1993) Kinetic study of the thermal denaturation of G actin using differential scanning calorimetry and intrinsic fluorescence spectroscopy. Biochem Biophys Res Commun 194: 1065-1073.
-
(1993)
Biochem Biophys Res Commun
, vol.194
, pp. 1065-1073
-
-
Le Bihan, T.1
Gicquaud, C.2
-
18
-
-
17444399296
-
Actin mutations in hypertrophic and dilated cardiomyopathy cause inefficient protein folding and perturbed filament formation
-
Vang S, Corydon T, Borglum A, Scott M, Frydman J, et al. (2005) Actin mutations in hypertrophic and dilated cardiomyopathy cause inefficient protein folding and perturbed filament formation. FEBS Journal 272: 2037-2049.
-
(2005)
FEBS Journal
, vol.272
, pp. 2037-2049
-
-
Vang, S.1
Corydon, T.2
Borglum, A.3
Scott, M.4
Frydman, J.5
-
19
-
-
0035746804
-
Functional studies of yeast actin mutants corresponding to human cardiomyopathy mutations
-
Wong WW, Doyle TC, Cheung P, Olson TM, Reisler E, (2001) Functional studies of yeast actin mutants corresponding to human cardiomyopathy mutations. J Muscle Res Cell Motil 22: 665-674.
-
(2001)
J Muscle Res Cell Motil
, vol.22
, pp. 665-674
-
-
Wong, W.W.1
Doyle, T.C.2
Cheung, P.3
Olson, T.M.4
Reisler, E.5
-
20
-
-
33745190034
-
Functional consequences of a mutation in an expressed human alpha-cardiac actin at a site implicated in familial hypertrophic cardiomyopathy
-
Bookwalter CS, Trybus KM, (2006) Functional consequences of a mutation in an expressed human alpha-cardiac actin at a site implicated in familial hypertrophic cardiomyopathy. J Biol Chem 281: 16777-16784.
-
(2006)
J Biol Chem
, vol.281
, pp. 16777-16784
-
-
Bookwalter, C.S.1
Trybus, K.M.2
-
21
-
-
34548603011
-
Overexpression of cardiac actin with baculovirus is promoter dependent
-
Yates SP, Otley MD, Dawson J, (2007) Overexpression of cardiac actin with baculovirus is promoter dependent. Arch Biochem Biophys 466: 58-65.
-
(2007)
Arch Biochem Biophys
, vol.466
, pp. 58-65
-
-
Yates, S.P.1
Otley, M.D.2
Dawson, J.3
-
22
-
-
74149089074
-
Human actin mutations associated with hypertrophic and dilated cardiomyopathies demonstrate distinct thin filament regulatory properties in vitro
-
Debold EP, Saber W, Cheema Y, Bookwalter CS, Trybus KM, et al. (2010) Human actin mutations associated with hypertrophic and dilated cardiomyopathies demonstrate distinct thin filament regulatory properties in vitro. J Mol Cell Cardiol 48: 286-292.
-
(2010)
J Mol Cell Cardiol
, vol.48
, pp. 286-292
-
-
Debold, E.P.1
Saber, W.2
Cheema, Y.3
Bookwalter, C.S.4
Trybus, K.M.5
-
23
-
-
77955308896
-
Investigation of a transgenic mouse model of familial dilated cardiomyopathy
-
Song W, Dyer E, Stuckey D, Leung MC, Memo M, et al. (2010) Investigation of a transgenic mouse model of familial dilated cardiomyopathy. J Mol Cell Cardiol 49: 380-389.
-
(2010)
J Mol Cell Cardiol
, vol.49
, pp. 380-389
-
-
Song, W.1
Dyer, E.2
Stuckey, D.3
Leung, M.C.4
Memo, M.5
-
24
-
-
79960977475
-
Molecular mechanism of the E99K mutation in cardiac actin (ACTC gene) that causes apical hypertrophy in man and mouse
-
Song W, Dyer E, Stuckey DJ, Copeland O, Leung MC, et al. (2011) Molecular mechanism of the E99K mutation in cardiac actin (ACTC gene) that causes apical hypertrophy in man and mouse. J Biol Chem 286: 27582-27593.
-
(2011)
J Biol Chem
, vol.286
, pp. 27582-27593
-
-
Song, W.1
Dyer, E.2
Stuckey, D.J.3
Copeland, O.4
Leung, M.C.5
-
25
-
-
0025096764
-
Enthalpic and entropic contributions to actin stability: Calorimetry, circular dichroism, and fluorescence study and effects of calcium
-
Bertazzon A, Tian GH, Lamblin A, Tsong TY, (1990) Enthalpic and entropic contributions to actin stability: Calorimetry, circular dichroism, and fluorescence study and effects of calcium. Biochemistry 29: 291-298.
-
(1990)
Biochemistry
, vol.29
, pp. 291-298
-
-
Bertazzon, A.1
Tian, G.H.2
Lamblin, A.3
Tsong, T.Y.4
-
26
-
-
0141707869
-
Solution properties of tetramethylrhodamine-modified G-actin
-
Kudryashov DS, Reisler E, (2003) Solution properties of tetramethylrhodamine-modified G-actin. Biophys J 85: 2466-2475.
-
(2003)
Biophys J
, vol.85
, pp. 2466-2475
-
-
Kudryashov, D.S.1
Reisler, E.2
-
27
-
-
0035958757
-
The crystal structure of uncomplexed actin in the ADP state
-
Otterbein LR, Graceffa P, Dominguez R, (2001) The crystal structure of uncomplexed actin in the ADP state. Science 293: 708-711.
-
(2001)
Science
, vol.293
, pp. 708-711
-
-
Otterbein, L.R.1
Graceffa, P.2
Dominguez, R.3
-
28
-
-
0028938003
-
Long-range conformational effects of proteolytic removal of the last three residues of actin
-
Strzelecka-Golaszewska H, Mossakowska M, Wozniak A, Moraczewska J, Nakayama H, (1995) Long-range conformational effects of proteolytic removal of the last three residues of actin. Biochem J 307 (Pt 2): 527-534.
-
(1995)
Biochem J
, vol.307
, Issue.Pt 2
, pp. 527-534
-
-
Strzelecka-Golaszewska, H.1
Mossakowska, M.2
Wozniak, A.3
Moraczewska, J.4
Nakayama, H.5
-
29
-
-
0026768578
-
The binding of mutant actins to profilin, ATP and DNase I
-
Drummond DR, Hennessey ES, Sparrow JC, (1992) The binding of mutant actins to profilin, ATP and DNase I. Eur J Biochem 209: 171-179.
-
(1992)
Eur J Biochem
, vol.209
, pp. 171-179
-
-
Drummond, D.R.1
Hennessey, E.S.2
Sparrow, J.C.3
-
30
-
-
33747691035
-
Analysis of tetramethylrhodamine-labeled actin polymerization and interaction with actin regulatory proteins
-
Pelikan Conchaudron A, Didry D, Le KH, Larquet E, Boisset N, et al. (2006) Analysis of tetramethylrhodamine-labeled actin polymerization and interaction with actin regulatory proteins. J Biol Chem 281: 24036-24047.
-
(2006)
J Biol Chem
, vol.281
, pp. 24036-24047
-
-
Pelikan Conchaudron, A.1
Didry, D.2
Le, K.H.3
Larquet, E.4
Boisset, N.5
-
31
-
-
74549145228
-
Actin polymerization is controlled by residue size at position 204
-
Yates SP, Loncar A, Dawson J, (2009) Actin polymerization is controlled by residue size at position 204. Biochem Cell Biol 87: 853-865.
-
(2009)
Biochem Cell Biol
, vol.87
, pp. 853-865
-
-
Yates, S.P.1
Loncar, A.2
Dawson, J.3
-
32
-
-
0026737363
-
Systematic mutational analysis of the yeast ACT1 gene
-
Wertman KF, Drubin DG, Botstein D, (1992) Systematic mutational analysis of the yeast ACT1 gene. Genetics 132: 337-350.
-
(1992)
Genetics
, vol.132
, pp. 337-350
-
-
Wertman, K.F.1
Drubin, D.G.2
Botstein, D.3
-
33
-
-
0028940312
-
An atomic model of the unregulated thin filament obtained by X-ray fiber diffraction on oriented actin-tropomyosin gels
-
Lorenz M, Poole KJ, Popp D, Rosenbaum G, Holmes KC, (1995) An atomic model of the unregulated thin filament obtained by X-ray fiber diffraction on oriented actin-tropomyosin gels. J Mol Biol 246: 108-119.
-
(1995)
J Mol Biol
, vol.246
, pp. 108-119
-
-
Lorenz, M.1
Poole, K.J.2
Popp, D.3
Rosenbaum, G.4
Holmes, K.C.5
-
34
-
-
0024988340
-
Atomic structure of the actin:DNase I complex
-
Kabsch W, Mannherz HG, Suck D, Pai EF, Holmes KC, (1990) Atomic structure of the actin:DNase I complex. Nature 347: 37-44.
-
(1990)
Nature
, vol.347
, pp. 37-44
-
-
Kabsch, W.1
Mannherz, H.G.2
Suck, D.3
Pai, E.F.4
Holmes, K.C.5
-
35
-
-
0037143622
-
How does ATP hydrolysis control actin's associations?
-
Sablin EP, Dawson J, Vanloock M, Spudich J, Egelman E, et al. (2002) How does ATP hydrolysis control actin's associations? Proc Natl Acad Sci USA 99: 10945-10947.
-
(2002)
Proc Natl Acad Sci USA
, vol.99
, pp. 10945-10947
-
-
Sablin, E.P.1
Dawson, J.2
Vanloock, M.3
Spudich, J.4
Egelman, E.5
-
36
-
-
58749091822
-
The nature of the globular- to fibrous-actin transition
-
Oda T, Iwasa M, Aihara T, Maeda Y, Narita A, (2009) The nature of the globular- to fibrous-actin transition. Nature 457: 441-445.
-
(2009)
Nature
, vol.457
, pp. 441-445
-
-
Oda, T.1
Iwasa, M.2
Aihara, T.3
Maeda, Y.4
Narita, A.5
-
37
-
-
0034673120
-
A230Y mutation of actin on subdomain 4 is sufficient for higher calcium activation of actin-activated myosin adenosinetriphosphatase in the presence of tropomyosin-troponin
-
Saeki K, Wakabayashi T, (2000) A230Y mutation of actin on subdomain 4 is sufficient for higher calcium activation of actin-activated myosin adenosinetriphosphatase in the presence of tropomyosin-troponin. Biochemistry 39: 1324-1329.
-
(2000)
Biochemistry
, vol.39
, pp. 1324-1329
-
-
Saeki, K.1
Wakabayashi, T.2
-
38
-
-
33745757777
-
Expression of actin mutants to study their roles in cardiomyopathy
-
Rutkevich L, Teal D, Dawson J, (2006) Expression of actin mutants to study their roles in cardiomyopathy. Can J Physiol Pharmacol 84: 111-119.
-
(2006)
Can J Physiol Pharmacol
, vol.84
, pp. 111-119
-
-
Rutkevich, L.1
Teal, D.2
Dawson, J.3
-
39
-
-
0141445972
-
Crystal structure of monomeric actin in the ATP state. structural basis of nucleotide-dependent actin dynamics
-
Graceffa P, Dominguez R, (2003) Crystal structure of monomeric actin in the ATP state. structural basis of nucleotide-dependent actin dynamics. J Biol Chem 278: 34172-34180.
-
(2003)
J Biol Chem
, vol.278
, pp. 34172-34180
-
-
Graceffa, P.1
Dominguez, R.2
-
40
-
-
78449264099
-
The PyMOL molecular graphics system
-
Version 1.3
-
Schrodinger L, (2010) The PyMOL molecular graphics system, Version 1.3.
-
(2010)
-
-
Schrodinger, L.1
|