Functional analysis of a gene-edited mouse model to gain insights into the disease mechanisms of a titin missense variant

[1]  Connor N Broyles,et al.  Measurement of Myofilament-Localized Calcium Dynamics in Adult Cardiomyocytes and the Effect of Hypertrophic Cardiomyopathy Mutations , 2019, Circulation research.

[2]  Ryan L. Collins,et al.  The mutational constraint spectrum quantified from variation in 141,456 humans , 2020, Nature.

[3]  Matthew J. Daniels,et al.  Analysis of 51 proposed hypertrophic cardiomyopathy genes from genome sequencing data in sarcomere negative cases has negligible diagnostic yield , 2018, Genetics in Medicine.

[4]  Martin Eisenacher,et al.  The PRIDE database and related tools and resources in 2019: improving support for quantification data , 2018, Nucleic Acids Res..

[5]  P. Elliott,et al.  Dilated Cardiomyopathy Due to BLC2-Associated Athanogene 3 (BAG3) Mutations. , 2018, Journal of the American College of Cardiology.

[6]  H. Watkins,et al.  Mutant Muscle LIM Protein C58G causes cardiomyopathy through protein depletion , 2018, Journal of molecular and cellular cardiology.

[7]  Mauro W. Costa,et al.  Deletion of Nkx2-5 in trabecular myocardium reveals the developmental origins of pathological heterogeneity associated with ventricular non-compaction cardiomyopathy , 2018, PLoS genetics.

[8]  F. Sheikh,et al.  Four and a half LIM domain protein signaling and cardiomyopathy , 2018, Biophysical Reviews.

[9]  D. O’Regan,et al.  Genetic Etiology for Alcohol-Induced Cardiac Toxicity , 2018, Journal of the American College of Cardiology.

[10]  S. Heymans,et al.  Titin cardiomyopathy leads to altered mitochondrial energetics, increased fibrosis and long-term life-threatening arrhythmias , 2018, European heart journal.

[11]  W. Linke.  Titin Gene and Protein Functions in Passive and Active Muscle. , 2018, Annual review of physiology.

[12]  J. Pu,et al.  Phenotype and Functional Analyses in a Transgenic Mouse Model of Left Ventricular Noncompaction Caused by a DTNA Mutation. , 2017, International heart journal.

[13]  J. Mialet-Perez,et al.  Autophagy in health and disease: focus on the cardiovascular system. , 2017, Essays in biochemistry.

[14]  J. Robbins,et al.  Activation of Autophagy Ameliorates Cardiomyopathy in Mybpc3-Targeted Knockin Mice , 2017, Circulation. Heart failure.

[15]  E. Petretto,et al.  Natural genetic variation of the cardiac transcriptome in non-diseased donors and patients with dilated cardiomyopathy , 2017, Genome Biology.

[16]  N. Peters,et al.  Hierarchical statistical techniques are necessary to draw reliable conclusions from analysis of isolated cardiomyocyte studies , 2017, Cardiovascular research.

[17]  Yusu Gu,et al.  Loss-of-function mutations in co-chaperone BAG3 destabilize small HSPs and cause cardiomyopathy , 2017, The Journal of clinical investigation.

[18]  Robyn M. Kaake,et al.  A BAG3 chaperone complex maintains cardiomyocyte function during proteotoxic stress. , 2017, JCI insight.

[19]  D. Bluemke,et al.  Community delivery of semiautomated fractal analysis tool in cardiac mr for trabecular phenotyping , 2017, Journal of magnetic resonance imaging : JMRI.

[20]  M. Lythgoe,et al.  Aberrant developmental titin splicing and dysregulated sarcomere length in Thymosin β4 knockout mice , 2017, Journal of molecular and cellular cardiology.

[21]  W. Chung,et al.  Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics , 2016, Genetics in Medicine.

[22]  Daniel Rueckert,et al.  Titin truncating variants affect heart function in disease cohorts and the general population , 2016, Nature Genetics.

[23]  L. Mestroni,et al.  A Review of the Giant Protein Titin in Clinical Molecular Diagnostics of Cardiomyopathies , 2016, Front. Cardiovasc. Med..

[24]  Stephan Lange,et al.  MLP and CARP are linked to chronic PKCα signalling in dilated cardiomyopathy , 2016, Nature Communications.

[25]  Marco Y. Hein,et al.  The Perseus computational platform for comprehensive analysis of (prote)omics data , 2016, Nature Methods.

[26]  Michael A. Burke,et al.  Molecular profiling of dilated cardiomyopathy that progresses to heart failure. , 2016, JCI insight.

[27]  Martina Krüger,et al.  Titin, a Central Mediator for Hypertrophic Signaling, Exercise-Induced Mechanosignaling and Skeletal Muscle Remodeling , 2016, Front. Physiol..

[28]  Jens R. Nyengaard,et al.  Dynamics of Cell Generation and Turnover in the Human Heart , 2015, Cell.

[29]  H. Granzier,et al.  Increased myocardial stiffness due to cardiac titin isoform switching in a mouse model of volume overload limits eccentric remodeling. , 2015, Journal of molecular and cellular cardiology.

[30]  J. W. Allwood,et al.  Changes in the cardiac metabolome caused by perhexiline treatment in a mouse model of hypertrophic cardiomyopathy. , 2015, Molecular bioSystems.

[31]  W. Huber,et al.  Moderated estimation of fold change and dispersion for RNA-seq data with DESeq2 , 2014, Genome Biology.

[32]  John Rowell,et al.  A Rising Titan: TTN Review and Mutation Update , 2014, Human mutation.

[33]  N. Frey,et al.  Ubiquitin-proteasome system and hereditary cardiomyopathies. , 2014, Journal of molecular and cellular cardiology.

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

[35]  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.

[36]  M. Yacoub,et al.  A critical role for Telethonin in regulating t-tubule structure and function in the mammalian heart. , 2013, Human molecular genetics.

[37]  A. Hale,et al.  Cardiomyocyte GTP Cyclohydrolase 1 and Tetrahydrobiopterin Increase NOS1 Activity and Accelerate Myocardial Relaxation , 2012, Circulation research.

[38]  B. Rothermel,et al.  FHL2 Binds Calcineurin and Represses Pathological Cardiac Growth , 2012, Molecular and Cellular Biology.

[39]  Wolfgang J Weninger,et al.  Embedding embryos for high-resolution episcopic microscopy (HREM). , 2012, Cold Spring Harbor protocols.

[40]  M. Mayr,et al.  Phosphoregulation of the Titin-cap Protein Telethonin in Cardiac Myocytes* , 2012, The Journal of Biological Chemistry.

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

[42]  Xuejun Wang,et al.  p62 Stages an interplay between the ubiquitin-proteasome system and autophagy in the heart of defense against proteotoxic stress. , 2011, Trends in cardiovascular medicine.

[43]  W. Linke,et al.  Telethonin Deficiency Is Associated With Maladaptation to Biomechanical Stress in the Mammalian Heart , 2011, Circulation research.

[44]  H. Granzier,et al.  Contribution of titin and extracellular matrix to passive pressure and measurement of sarcomere length in the mouse left ventricle. , 2011, Journal of molecular and cellular cardiology.

[45]  W. Linke,et al.  The Giant Protein Titin: A Regulatory Node That Integrates Myocyte Signaling Pathways* , 2011, The Journal of Biological Chemistry.

[46]  H. Katus,et al.  Severe familial left ventricular non-compaction cardiomyopathy due to a novel troponin T (TNNT2) mutation. , 2010, Cardiovascular research.

[47]  M. Mayr,et al.  Proteomics Analysis of the Cardiac Myofilament Subproteome Reveals Dynamic Alterations in Phosphatase Subunit Distribution* , 2009, Molecular & Cellular Proteomics.

[48]  Siegfried Labeit,et al.  Stress-induced dilated cardiomyopathy in a knock-in mouse model mimicking human titin-based disease. , 2009, Journal of molecular and cellular cardiology.

[49]  Matthias Rief,et al.  The titin-telethonin complex is a directed, superstable molecular bond in the muscle Z-disk , 2009, Proceedings of the National Academy of Sciences.

[50]  R. Reimer,et al.  Nonsense-Mediated mRNA Decay and Ubiquitin–Proteasome System Regulate Cardiac Myosin-Binding Protein C Mutant Levels in Cardiomyopathic Mice , 2009, Circulation research.

[51]  Gonçalo R. Abecasis,et al.  The Sequence Alignment/Map format and SAMtools , 2009, Bioinform..

[52]  W. Linke,et al.  Titin-based mechanical signalling in normal and failing myocardium. , 2009, Journal of molecular and cellular cardiology.

[53]  Peter Nürnberg,et al.  Beyond the sarcomere: CSRP3 mutations cause hypertrophic cardiomyopathy. , 2008, Human molecular genetics.

[54]  Helmut Grubmüller,et al.  Mechanoenzymatics of titin kinase , 2008, Proceedings of the National Academy of Sciences.

[55]  R. Körfer,et al.  Paxillin and ponsin interact in nascent costameres of muscle cells. , 2007, Journal of molecular biology.

[56]  Klaus Schulten,et al.  Mechanical strength of the titin Z1Z2-telethonin complex. , 2006, Structure.

[57]  E. Ehler,et al.  Establishment of cardiac cytoarchitecture in the developing mouse heart. , 2006, Developmental biology.

[58]  Pablo Tamayo,et al.  Gene set enrichment analysis: A knowledge-based approach for interpreting genome-wide expression profiles , 2005, Proceedings of the National Academy of Sciences of the United States of America.

[59]  A. Shah,et al.  Essential role of troponin I in the positive inotropic response to isoprenaline in mouse hearts contracting auxotonically , 2004, The Journal of physiology.

[60]  R. Schüle,et al.  Extracellular Signal-Regulated Kinase 2 Interacts with and Is Negatively Regulated by the LIM-Only Protein FHL2 in Cardiomyocytes , 2004, Molecular and Cellular Biology.

[61]  Keiji Tanaka,et al.  Proteasomes and Molecular Chaperones : Cellular Machinery Responsible for Folding and Destruction of Unfolded Proteins , 2003, Cell cycle.

[62]  Masahiko Hoshijima,et al.  The Cardiac Mechanical Stretch Sensor Machinery Involves a Z Disc Complex that Is Defective in a Subset of Human Dilated Cardiomyopathy , 2002, Cell.

[63]  Daniel Auerbach,et al.  Subcellular targeting of metabolic enzymes to titin in heart muscle may be mediated by DRAL/FHL-2 , 2002, Journal of Cell Science.

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

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

[66]  R. Bassel-Duby,et al.  Cardiac-Specific LIM Protein FHL2 Modifies the Hypertrophic Response to &bgr;-Adrenergic Stimulation , 2001, Circulation.

[67]  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.

[68]  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.

[69]  K. Weber,et al.  The organization of titin filaments in the half-sarcomere revealed by monoclonal antibodies in immunoelectron microscopy: a map of ten nonrepetitive epitopes starting at the Z line extends close to the M line , 1988, The Journal of cell biology.

[70]  S. Rogers,et al.  Amino acid sequences common to rapidly degraded proteins: the PEST hypothesis. , 1986, Science.

[71]  J. Trinick,et al.  Titin and Nebulin in Thick and Thin Filament Length Regulation. , 2017, Sub-cellular biochemistry.

[72]  A. Pagnamenta,et al.  Combination of whole genome sequencing, linkage, and functional studies implicates a missense mutation in titin as a cause of autosomal dominant cardiomyopathy with features of left ventricular noncompaction , 2016 .

[73]  Xuejun Wang,et al.  Proteasome malfunction activates macroautophagy in the heart. , 2011, American journal of cardiovascular disease.

[74]  Stephan Lange,et al.  From A to Z and back? Multicompartment proteins in the sarcomere. , 2006, Trends in cell biology.

[75]  E. Ehler,et al.  The molecular composition of the sarcomeric M-band correlates with muscle fiber type. , 2004, European journal of cell biology.

[76]  H. Granzier,et al.  Titin as a modular spring: emerging mechanisms for elasticity control by titin in cardiac physiology and pathophysiology. , 2002, Journal of muscle research and cell motility.