Titin mutations: the fall of Goliath

[1]  W. Linke,et al.  S-Glutathionylation of Cryptic Cysteines Enhances Titin Elasticity by Blocking Protein Folding , 2014, Cell.

[2]  N. Hübner,et al.  Recessive TTN truncating mutations define novel forms of core myopathy with heart disease. , 2014, Human molecular genetics.

[3]  Paul M. K. Gordon,et al.  Titin mutation in familial restrictive cardiomyopathy. , 2014, International journal of cardiology.

[4]  W. Paulus,et al.  Myocardial titin and collagen in cardiac diastolic dysfunction: partners in crime. , 2013, Circulation.

[5]  P. Robinson,et al.  Doubly heterozygous LMNA and TTN mutations revealed by exome sequencing in a severe form of dilated cardiomyopathy , 2013, European Journal of Human Genetics.

[6]  W. Linke,et al.  Crucial Role for Ca2+/Calmodulin-Dependent Protein Kinase-II in Regulating Diastolic Stress of Normal and Failing Hearts via Titin Phosphorylation , 2013, Circulation research.

[7]  J. Bronzwaer,et al.  Low Myocardial Protein Kinase G Activity in Heart Failure With Preserved Ejection Fraction , 2012, Circulation.

[8]  A. McCulloch,et al.  A Novel Mechanism Involving Four-and-a-half LIM Domain Protein-1 and Extracellular Signal-regulated Kinase-2 Regulates Titin Phosphorylation and Mechanics* , 2012, The Journal of Biological Chemistry.

[9]  D. Freimark,et al.  A novel titin mutation in adult-onset familial dilated cardiomyopathy. , 2012, The American journal of cardiology.

[10]  L. Mestroni,et al.  Truncations of titin causing dilated cardiomyopathy. , 2012, The New England journal of medicine.

[11]  Brian R. Anderson,et al.  Genetic Variation in Titin in Arrhythmogenic Right Ventricular Cardiomyopathy–Overlap Syndromes , 2011, Circulation.

[12]  M. LeWinter,et al.  Cardiac titin: a multifunctional giant. , 2010, Circulation.

[13]  R. Bloch,et al.  Muscle giants: molecular scaffolds in sarcomerogenesis. , 2009, Physiological reviews.

[14]  Siegfried Labeit,et al.  PKC Phosphorylation of Titin’s PEVK Element: A Novel and Conserved Pathway for Modulating Myocardial Stiffness , 2009, Circulation research.

[15]  W. Linke,et al.  Modulation of titin-based stiffness by disulfide bonding in the cardiac titin N2-B unique sequence. , 2009, Biophysical journal.

[16]  J. Towbin,et al.  Cardiac ankyrin repeat protein gene (ANKRD1) mutations in hypertrophic cardiomyopathy. , 2009, Journal of the American College of Cardiology.

[17]  M. Greaser.  Stressing the giant: a new approach to understanding dilated cardiomyopathy. , 2009, Journal of molecular and cellular cardiology.

[18]  Christian Andresen,et al.  Protein kinase G modulates human myocardial passive stiffness by phosphorylation of the titin springs , 2008, Circulation research.

[19]  N. Garg,et al.  Enhanced nitrosative stress during Trypanosoma cruzi infection causes nitrotyrosine modification of host proteins: implications in Chagas' disease. , 2008, The American journal of pathology.

[20]  T. Hayashi,et al.  Molecular etiology of idiopathic cardiomyopathy. , 2007, Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology.

[21]  J. Seidman,et al.  Genetic Basis of Hypertrophic Cardiomyopathy: From Bench to the Clinics , 2007, Journal of cardiovascular electrophysiology.

[22]  Eloisa Arbustini,et al.  Classification of the cardiomyopathies: a position statement from the European Society Of Cardiology Working Group on Myocardial and Pericardial Diseases. , 2007, European heart journal.

[23]  K. Campbell,et al.  C‐terminal titin deletions cause a novel early‐onset myopathy with fatal cardiomyopathy , 2007, Annals of neurology.

[24]  Michelle Peckham,et al.  Targeted homozygous deletion of M-band titin in cardiomyocytes prevents sarcomere formation , 2006, Journal of Cell Science.

[25]  B. Erdmann,et al.  M line–deficient titin causes cardiac lethality through impaired maturation of the sarcomere , 2006, The Journal of cell biology.

[26]  John Atherton,et al.  Identification of a novel frameshift mutation in the giant muscle filament titin in a large Australian family with dilated cardiomyopathy , 2006, Journal of Molecular Medicine.

[27]  Barry J Maron,et al.  Contemporary definitions and classification of the cardiomyopathies: an American Heart Association Scientific Statement from the Council on Clinical Cardiology, Heart Failure and Transplantation Committee; Quality of Care and Outcomes Research and Functional Genomics and Translational Biology Interd , 2006, Circulation.

[28]  T. Arimura,et al.  Functional analysis of titin/connectin N2-B mutations found in cardiomyopathy , 2006, Journal of Muscle Research & Cell Motility.

[29]  P. D. de Tombe,et al.  Titin and the developing heart. , 2004, Circulation research.

[30]  Yiming Wu,et al.  Developmental Control of Titin Isoform Expression and Passive Stiffness in Fetal and Neonatal Myocardium , 2004, Circulation research.

[31]  Yiming Wu,et al.  Calcium-dependent molecular spring elements in the giant protein titin , 2003, Proceedings of the National Academy of Sciences of the United States of America.

[32]  H. Watkins,et al.  Hypertrophic cardiomyopathy:a paradigm for myocardial energy depletion. , 2003, Trends in genetics : TIG.

[33]  Christian C Witt,et al.  Conditional Expression of Mutant M-line Titins Results in Cardiomyopathy with Altered Sarcomere Structure* , 2003, The Journal of Biological Chemistry.

[34]  Roger J Hajjar,et al.  Titin Isoform Switch in Ischemic Human Heart Disease , 2002, Circulation.

[35]  H. Granzier,et al.  Protein Kinase A Phosphorylates Titin’s Cardiac-Specific N2B Domain and Reduces Passive Tension in Rat Cardiac Myocytes , 2002, Circulation research.

[36]  Takeharu Hayashi,et al.  Titin mutations as the molecular basis for dilated cardiomyopathy. , 2002, Biochemical and biophysical research communications.

[37]  Mark C. Fishman,et al.  Cardiomyopathy in zebrafish due to mutation in an alternatively spliced exon of titin , 2002, Nature Genetics.

[38]  John Atherton,et al.  Mutations of TTN, encoding the giant muscle filament titin, cause familial dilated cardiomyopathy , 2002, Nature Genetics.

[39]  Dietmar Labeit,et al.  The Complete Gene Sequence of Titin, Expression of an Unusual ≈700-kDa Titin Isoform, and Its Interaction With Obscurin Identify a Novel Z-Line to I-Band Linking System , 2001 .

[40]  H. Granzier,et al.  Titin-actin interaction in mouse myocardium: passive tension modulation and its regulation by calcium/S100A1. , 2001, Biophysical journal.

[41]  A. Marian,et al.  Expression profiling of cardiac genes in human hypertrophic cardiomyopathy: insight into the pathogenesis of phenotypes. , 2001, Journal of the American College of Cardiology.

[42]  J. Sanger,et al.  Fishing out proteins that bind to titin , 2001, The Journal of cell biology.

[43]  M Hiroe,et al.  Structural analysis of the titin gene in hypertrophic cardiomyopathy: identification of a novel disease gene. , 1999, Biochemical and biophysical research communications.

[44]  Siegfried Labeit,et al.  The NH2 Terminus of Titin Spans the Z-Disc: Its Interaction with a Novel 19-kD Ligand (T-cap) Is Required for Sarcomeric Integrity , 1998, The Journal of cell biology.

[45]  M. Gautel,et al.  The structure of the sarcomeric M band: localization of defined domains of myomesin, M-protein, and the 250-kD carboxy-terminal region of titin by immunoelectron microscopy , 1996, The Journal of cell biology.

[46]  L. Fananapazir,et al.  Abnormal contractile properties of muscle fibers expressing beta-myosin heavy chain gene mutations in patients with hypertrophic cardiomyopathy. , 1995, The Journal of clinical investigation.

[47]  J. Seidman,et al.  A molecular basis for familial hypertrophic cardiomyopathy: A β cardiac myosin heavy chain gene missense mutation , 1990, Cell.

[48]  M. Gautel,et al.  The sarcomere and sarcomerogenesis. , 2008, Advances in experimental medicine and biology.

[49]  Wolfgang A. Linke,et al.  Gigantic variety: expression patterns of titin isoforms in striated muscles and consequences for myofibrillar passive stiffness , 2004, Journal of Muscle Research & Cell Motility.

[50]  T. Hayashi,et al.  Molecular etiology of idiopathic cardiomyopathy in Asian populations. , 2001, Journal of cardiology.