Weakness of a giant: mutations of the sarcomeric protein titin

Trends in Molecular Medicine - Tập 8 - Trang 311-313 - 2002
Stefan Hein1, Jutta Schaper2
1Dept of Cardiac Surgery, Kerckhoff Clinic, Benekestr. 8, D-61231 Bad Nauheim, Germany
2Max-Planck-Institute, Dept of Experimental Cardiology, Bad Nauheim, Germany

Tài liệu tham khảo

Wang, 2001, Single molecule measurements of titin elasticity, Prog. Biophys. Mol. Biol., 77, 1, 10.1016/S0079-6107(01)00009-8 Freiburg, 2000, Series of exon-skipping events in the elastic spring region of titin as the structural basis for myofibrillar elastic diversity, Circ. Res., 86, 1114, 10.1161/01.RES.86.11.1114 Kostin, 1998, The protein composition of the normal and diseased cardiac myocyte, Heart Fail. Rev., 2, 245, 10.1023/A:1009797831654 Squire, 1997, Architecture and function in the muscle sarcomere, Curr. Opin. Struct. Biol., 7, 247, 10.1016/S0959-440X(97)80033-4 Labeit, 1997, The giant protein titin. Emerging roles in physiology and pathophysiology, Circ. Res., 80, 290, 10.1161/01.RES.80.2.290 Young, 1998, Molecular structure of the sarcomeric Z-disk: two types of titin interactions lead to an asymmetrical sorting of alpha-actinin, EMBO J., 17, 1614, 10.1093/emboj/17.6.1614 Obermann, 1997, Molecular structure of the sarcomeric M band: mapping of titin and myosin binding domains in myomesin and the identification of a potential regulatory phosphorylation site in myomesin, EMBO J., 16, 211, 10.1093/emboj/16.2.211 Linke, 1997, Actin-titin interaction in cardiac myofibrils: probing a physiological role, Biophys. J., 73, 905, 10.1016/S0006-3495(97)78123-2 Kulke, 2001, Interaction between PEVK-titin and actin filaments: origin of a viscous force component in cardiac myofibrils, Circ. Res., 89, 874, 10.1161/hh2201.099453 Gregorio, 1999, Muscle assembly: a titanic achievement?, Curr. Opin. Cell Biol., 11, 18, 10.1016/S0955-0674(99)80003-9 van der Ven, 2000, A functional knock-out of titin results in defective myofibril assembly, J. Cell Sci., 113, 1405, 10.1242/jcs.113.8.1405 Person, 2000, Antisense oligonucleotide experiments elucidate the essential role of titin in sarcomerogenesis in adult rat cardiomyocytes in long-term culture, J. Cell Sci., 113, 3851, 10.1242/jcs.113.21.3851 Morano, 1994, Titin, myosin light chains and C-protein in the developing and failing human heart, J. Mol. Cell. Cardiol., 26, 361, 10.1006/jmcc.1994.1045 Hein, 1994, Altered expression of titin and contractile proteins in failing human myocardium, J. Mol. Cell. Cardiol., 26, 1291, 10.1006/jmcc.1994.1148 Cazorla, 2000, Differential expression of cardiac titin isoforms and modulation of cellular stiffness, Circ. Res., 86, 59, 10.1161/01.RES.86.1.59 Fukuda, 2001, Length dependence of tension generation in rat skinned cardiac muscle: role of titin in the Frank-Starling mechanism of the heart, Circulation, 104, 1639, 10.1161/hc3901.095898 Yamasaki, 2001, Titin-actin interaction in mouse myocardium: passive tension modulation and its regulation by calcium/S100A1, Biophys. J., 81, 2297, 10.1016/S0006-3495(01)75876-6 Centner, 2001, Identification of muscle specific ring finger proteins as potential regulators of the titin kinase domain, J. Mol. Biol., 306, 717, 10.1006/jmbi.2001.4448 Gerull, 2002, Mutations of TTN, encoding the giant muscle filament titin, cause familial dilated cardiomyopathy, Nat. Genet., 30, 201, 10.1038/ng815 Itoh-Satoh, 2002, Titin mutations as the molecular basis for dilated cardiomyopathy, Biochem. Biophys. Res. Commun., 291, 385, 10.1006/bbrc.2002.6448 Xu, 2002, Cardiomyopathy in zebrafish due to mutation in an alternatively spliced exon of titin, Nat. Genet., 30, 205, 10.1038/ng816 Garvey, 2002, The muscular dystrophy with myositis (mdm) mouse mutation disrupts a skeletal muscle-pecific domain of titin, Genomics, 79, 146, 10.1006/geno.2002.6685 Linke, 1999, I-band titin in cardiac muscle is a three-element molecular spring and is critical for maintaining thin filament structure, J. Cell Biol., 146, 631, 10.1083/jcb.146.3.631 Cazorla, 1999, Length modulation of active force in rat cardiac myocytes: is titin the sensor?, J. Mol. Cell. Cardiol., 31, 1215, 10.1006/jmcc.1999.0954 Sutko, 2001, Titin: an elastic link between length and active force production in myocardium, Circulation, 104, 1585, 10.1161/circ.104.14.1585 Bell, 2000, Alterations in the determinants of diastolic suction during pacing tachycardia, Circ. Res., 87, 235, 10.1161/01.RES.87.3.235