Gene therapy for inherited arrhythmias

Engineering adeno-associated virus vectors for gene therapy

(2020) Chengwen Li et al.   NATURE REVIEWS GENETICS

Chronic Calmodulin-Kinase II Activation Drives Disease Progression in Mutation-Specific Hypertrophic Cardiomyopathy

(2019) Sarah J. Lehman et al.   CIRCULATION

Treating Disease at the RNA Level with Oligonucleotides

(2019) Arthur A. Levin   NEW ENGLAND JOURNAL OF MEDICINE

Dual AAV-mediated gene therapy restores hearing in a DFNB9 mouse model

(2019) Omar Akil et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

A New Class of Medicines through DNA Editing

(2019) Matthew H. Porteus   NEW ENGLAND JOURNAL OF MEDICINE

Single‐nucleotide editing: from principle, optimization to application

(2019) Jinling Tang et al.   HUMAN MUTATION

Molecular mechanisms of arrhythmogenic cardiomyopathy

(2019) Karyn M. Austin et al.   Nature Reviews Cardiology

Sudden death related cardiomyopathies – Arrhythmogenic right ventricular cardiomyopathy, arrhythmogenic cardiomyopathy, and exercise-induced cardiomyopathy

(2019) Zackary D. Goff et al.   PROGRESS IN CARDIOVASCULAR DISEASES

Intein-mediated protein trans-splicing expands adeno-associated virus transfer capacity in the retina

(2019) Patrizia Tornabene et al.   Science Translational Medicine

Current Landscape of Heart Failure Gene Therapy

(2019) Jake M. Kieserman et al.   Journal of the American Heart Association

Current Development of siRNA Bioconjugates: From Research to the Clinic

(2019) Ivan V. Chernikov et al.   Frontiers in Pharmacology

Enhanced American College of Cardiology/American Heart Association Strategy for Prevention of Sudden Cardiac Death in High-Risk Patients With Hypertrophic Cardiomyopathy

(2019) Martin S. Maron et al.   JAMA Cardiology

Gene Therapy for Catecholaminergic Polymorphic Ventricular Tachycardia by Inhibition of Ca 2+ /Calmodulin-Dependent Kinase II

(2019) Vassilios J. Bezzerides et al.   CIRCULATION

Insights Into the Pathogenesis of Catecholaminergic Polymorphic Ventricular Tachycardia From Engineered Human Heart Tissue

(2019) Sung-Jin Park et al.   CIRCULATION

Search-and-replace genome editing without double-strand breaks or donor DNA

(2019) Andrew V. Anzalone et al.   NATURE

Phosphomimetic cardiac myosin-binding protein C partially rescues a cardiomyopathy phenotype in murine engineered heart tissue

(2019) Alexander Dutsch et al.   Scientific Reports

Implantable Cardioverter Defibrillator Use in Catecholaminergic Polymorphic Ventricular Tachycardia: A Systematic Review

(2018) Thomas M. Roston et al.   HEART RHYTHM

Severe Toxicity in Nonhuman Primates and Piglets Following High-Dose Intravenous Administration of an Adeno-Associated Virus Vector Expressing Human SMN

(2018) Christian Hinderer et al.   HUMAN GENE THERAPY

A Calsequestrin Cis-Regulatory Motif Coupled to a Cardiac Troponin T Promoter Improves Cardiac Adeno-Associated Virus Serotype 9 Transduction Specificity

(2018) Kyle Chamberlain et al.   HUMAN GENE THERAPY

Gene therapy strategies in the treatment of hypertrophic cardiomyopathy

(2018) Maksymilian Prondzynski et al.   PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY

In Vivo Ryr 2 Editing Corrects Catecholaminergic Polymorphic Ventricular Tachycardia

(2018) Xiaolu Pan et al.   CIRCULATION RESEARCH

Channelopathies That Lead to Sudden Cardiac Death: Clinical and Genetic Aspects

(2018) Jonathan R. Skinner et al.   Heart Lung and Circulation

mRNA-Based Protein Replacement Therapy for the Heart

(2018) Ajit Magadum et al.   MOLECULAR THERAPY

Prevalence and cardiac phenotype of patients with a phospholamban mutation

(2018) I. E. Hof et al.   Netherlands Heart Journal

The Development of an AAV-Based CRISPR SaCas9 Genome Editing System That Can Be Delivered to Neurons in vivo and Regulated via Doxycycline and Cre-Recombinase

(2018) Namrata Kumar et al.   Frontiers in Molecular Neuroscience

Viral delivered gene therapy to treat catecholaminergic polymorphic ventricular tachycardia (CPVT2) in mouse models

(2017) Efrat Kurtzwald-Josefson et al.   HEART RHYTHM

2017 AHA/ACC/HRS Guideline for Management of Patients With Ventricular Arrhythmias and the Prevention of Sudden Cardiac Death

(2017) Sana M. Al-Khatib et al.   HEART RHYTHM

Small But Increasingly Mighty: Latest Advances in AAV Vector Research, Design, and Evolution

(2017) Dirk Grimm et al.   HUMAN GENE THERAPY

Correction of a pathogenic gene mutation in human embryos

(2017) Hong Ma et al.   NATURE

Single-Dose Gene-Replacement Therapy for Spinal Muscular Atrophy

(2017) Jerry R. Mendell et al.   NEW ENGLAND JOURNAL OF MEDICINE

CaMKII: The molecular villain that aggravates cardiovascular disease

(2017) Peiying Zhang   Experimental and Therapeutic Medicine

Development of Exon Skipping Therapies for Duchenne Muscular Dystrophy: A Critical Review and a Perspective on the Outstanding Issues

(2017) Annemieke Aartsma-Rus et al.   Nucleic Acid Therapeutics

Evaluation of MYBPC3 trans -Splicing and Gene Replacement as Therapeutic Options in Human iPSC-Derived Cardiomyocytes

(2017) Maksymilian Prondzynski et al.   Molecular Therapy-Nucleic Acids

Overcoming the Host Immune Response to Adeno-Associated Virus Gene Delivery Vectors: The Race Between Clearance, Tolerance, Neutralization, and Escape

(2017) Federico Mingozzi et al.   Annual Review of Virology

Effective Depletion of Pre-existing Anti-AAV Antibodies Requires Broad Immune Targeting

(2017) Victoria M. Velazquez et al.   Molecular Therapy-Methods & Clinical Development

Targeted Genome Replacement via Homology-directed Repair in Non-dividing Cardiomyocytes

(2017) Takamaru Ishizu et al.   Scientific Reports

Genome editing with CRISPR/Cas9 in postnatal mice corrects PRKAG2 cardiac syndrome

(2016) Chang Xie et al.   CELL RESEARCH

Genotype-Dependent and -Independent Calcium Signaling Dysregulation in Human Hypertrophic CardiomyopathyClinical Perspective

(2016) Adam S. Helms et al.   CIRCULATION

Exon skipping: a first in class strategy for Duchenne muscular dystrophy

(2016) Erik H. Niks et al.   EXPERT OPINION ON BIOLOGICAL THERAPY

A novel heterozygous mutation in cardiac calsequestrin causes autosomal dominant catecholaminergic polymorphic ventricular tachycardia

(2016) Belinda Gray et al.   HEART RHYTHM

Comparison of the effects of a truncating and a missense MYBPC3 mutation on contractile parameters of engineered heart tissue

(2016) Paul J.M. Wijnker et al.   JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY

Deficient cMyBP-C protein expression during cardiomyocyte differentiation underlies human hypertrophic cardiomyopathy cellular phenotypes in disease specific human ES cell derived cardiomyocytes

(2016) Andre Monteiro da Rocha et al.   JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY

Calcium upregulation by percutaneous administration of gene therapy in patients with cardiac disease (CUPID 2): a randomised, multinational, double-blind, placebo-controlled, phase 2b trial

(2016) Barry Greenberg et al.   LANCET

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

A Prospective Study of Sudden Cardiac Death among Children and Young Adults

(2016) Richard D. Bagnall et al.   NEW ENGLAND JOURNAL OF MEDICINE

In vivo tissue-tropism of adeno-associated viral vectors

(2016) Arun Srivastava   Current Opinion in Virology

mRNAtrans -splicing in gene therapy for genetic diseases

(2016) Adeline Berger et al.   Wiley Interdisciplinary Reviews-RNA

A study in Polish patients with cardiomyopathy emphasizes pathogenicity of phospholamban (PLN) mutations at amino acid position 9 and low penetrance of heterozygous null PLN mutations

(2015) Grażyna T Truszkowska et al.   BMC Medical Genetics

Clinical Management of Catecholaminergic Polymorphic Ventricular Tachycardia: The Role of Left Cardiac Sympathetic Denervation

(2015) G. M. De Ferrari et al.   CIRCULATION

Targeting transgene to the heart and liver with AAV9 by different promoters

(2015) Bang-Dang Chen et al.   CLINICAL AND EXPERIMENTAL PHARMACOLOGY AND PHYSIOLOGY

Postnatal genome editing partially restores dystrophin expression in a mouse model of muscular dystrophy

(2015) C. Long et al.   SCIENCE

In vivo gene editing in dystrophic mouse muscle and muscle stem cells

(2015) M. Tabebordbar et al.   SCIENCE

Correction of human phospholamban R14del mutation associated with cardiomyopathy using targeted nucleases and combination therapy

(2015) Ioannis Karakikes et al.   Nature Communications

Micromolded gelatin hydrogels for extended culture of engineered cardiac tissues

(2014) Megan L. McCain et al.   BIOMATERIALS

Single Delivery of an Adeno-Associated Viral Construct to Transfer the CASQ2 Gene to Knock-In Mice Affected by Catecholaminergic Polymorphic Ventricular Tachycardia Is Able to Cure the Disease From Birth to Advanced Age

(2014) Marco Denegri et al.   CIRCULATION

Genetic and Clinical Advances in Congenital Long QT Syndrome

(2014) Yuka Mizusawa et al.   CIRCULATION JOURNAL

Role of RyR2 Phosphorylation in Heart Failure and Arrhythmias

(2014) Dobromir Dobrev et al.   CIRCULATION RESEARCH

Time Dependence of Risks and Benefits in Pediatric Primary Prevention Implantable Cardioverter-Defibrillator Therapy

(2014) Elizabeth S. DeWitt et al.   Circulation-Arrhythmia and Electrophysiology

Diagnosis and management of patients with inherited arrhythmia syndromes in Europe: results of the European Heart Rhythm Association Survey

(2014) M. Hocini et al.   EUROPACE

Engineering adeno-associated viruses for clinical gene therapy

(2014) Melissa A. Kotterman et al.   NATURE REVIEWS GENETICS

Generation and Characterization of a Mouse Model Harboring the Exon-3 Deletion in the Cardiac Ryanodine Receptor

(2014) Yingjie Liu et al.   PLoS One

Arrhythmogenic mechanisms in ryanodine receptor channelopathies

(2014) Yan-Ting Zhao et al.   Science China-Life Sciences

Mybpc3 gene therapy for neonatal cardiomyopathy enables long-term disease prevention in mice

(2014) Giulia Mearini et al.   Nature Communications

Immune responses to AAV vectors: overcoming barriers to successful gene therapy

(2013) F. Mingozzi et al.   BLOOD

Efficacy of Implantable Cardioverter Defibrillators in Young Patients With Catecholaminergic Polymorphic Ventricular Tachycardia

(2013) Christina Y. Miyake et al.   Circulation-Arrhythmia and Electrophysiology

Rescue of cardiomyopathy through U7snRNA-mediated exon skipping inMybpc3-targeted knock-in mice

(2013) Christina Gedicke-Hornung et al.   EMBO Molecular Medicine

Clinical utility gene card for: Catecholaminergic polymorphic ventricular tachycardia (CPVT)

(2013) Carlo Napolitano et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

History of gene therapy

(2013) Thomas Wirth et al.   GENE

Therapeutic safety of high myocardial expression levels of the molecular inotrope S100A1 in a preclinical heart failure model

(2013) C Weber et al.   GENE THERAPY

An Emerging Adeno-Associated Viral Vector Pipeline for Cardiac Gene Therapy

(2013) Aravind Asokan et al.   HUMAN GENE THERAPY

Prevention of Sudden Cardiac Death With Implantable Cardioverter-Defibrillators in Children and Adolescents With Hypertrophic Cardiomyopathy

(2013) Barry J. Maron et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Modified mRNA directs the fate of heart progenitor cells and induces vascular regeneration after myocardial infarction

(2013) Lior Zangi et al.   NATURE BIOTECHNOLOGY

Allele-Specific Silencing of Mutant Myh6 Transcripts in Mice Suppresses Hypertrophic Cardiomyopathy

(2013) Jianming Jiang et al.   SCIENCE

CaMKII inhibition rectifies arrhythmic phenotype in a patient-specific model of catecholaminergic polymorphic ventricular tachycardia

(2013) E Di Pasquale et al.   Cell Death & Disease

Recurrent and founder mutations in the Netherlands—Phospholamban p.Arg14del mutation causes arrhythmogenic cardiomyopathy

(2013) P. A. van der Zwaag et al.   Netherlands Heart Journal

Pre-existing Anti–Adeno-Associated Virus Antibodies as a Challenge in AAV Gene Therapy

(2013) Vedell Louis Jeune et al.   Human Gene Therapy Methods

Repair of Mybpc3 mRNA by 5′-trans-splicing in a Mouse Model of Hypertrophic Cardiomyopathy

(2013) Giulia Mearini et al.   Molecular Therapy-Nucleic Acids

Viral Gene Transfer Rescues Arrhythmogenic Phenotype and Ultrastructural Abnormalities in Adult Calsequestrin-Null Mice With Inherited Arrhythmias

(2012) Marco Denegri et al.   CIRCULATION RESEARCH

In Vivo Cardiac Myosin Binding Protein C Gene Transfer Rescues Myofilament Contractile Dysfunction in Cardiac Myosin Binding Protein C Null Mice

(2012) Sergei Merkulov et al.   Circulation-Heart Failure

RNA interference targeting E637K mutation rescues hERG channel currents and restores its kinetic properties

(2012) Xiaoli Lu et al.   HEART RHYTHM

Hypertrophic cardiomyopathy

(2012) Barry J Maron et al.   LANCET

Calcium Upregulation by Percutaneous Administration of Gene Therapy in Cardiac Disease (CUPID)

(2011) Mariell Jessup et al.   CIRCULATION

Long-term rescue of a familial hypertrophic cardiomyopathy caused by a mutation in the thin filament protein, tropomyosin, via modulation of a calcium cycling protein

(2011) Robert D. Gaffin et al.   JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY

Improving a Natural CaMKII Inhibitor by Random and Rational Design

(2011) Steven J. Coultrap et al.   PLoS One

Mechanisms of Defibrillation

(2010) Derek J. Dosdall et al.   Annual Review of Biomedical Engineering

So Little Source, So Much Sink: Requirements for Afterdepolarizations to Propagate in Tissue

(2010) Yuanfang Xie et al.   BIOPHYSICAL JOURNAL

Inhibition of Elevated Ca 2+ /Calmodulin-Dependent Protein Kinase II Improves Contractility in Human Failing Myocardium

(2010) Samuel Sossalla et al.   CIRCULATION RESEARCH

Genetics of hypertrophic cardiomyopathy

(2010) Tetsuo Konno et al.   CURRENT OPINION IN CARDIOLOGY

Robust cardiomyocyte-specific gene expression following systemic injection of AAV: in vivo gene delivery follows a Poisson distribution

(2010) K-M R Prasad et al.   GENE THERAPY

Neonatal gene transfer of Serca2a delays onset of hypertrophic remodeling and improves function in familial hypertrophic cardiomyopathy

(2010) James R. Peña et al.   JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY

Calmodulin kinase II inhibition prevents arrhythmias in RyR2R4496C+/− mice with catecholaminergic polymorphic ventricular tachycardia

(2010) Nian Liu et al.   JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY

Optogenetics

(2010) Karl Deisseroth   NATURE METHODS

High Efficacy of β-Blockers in Long-QT Syndrome Type 1

(2009) G. Michael Vincent et al.   CIRCULATION

Incidence and Risk Factors of Arrhythmic Events in Catecholaminergic Polymorphic Ventricular Tachycardia

(2009) Meiso Hayashi et al.   CIRCULATION

Prevalence of the Congenital Long-QT Syndrome

(2009) Peter J. Schwartz et al.   CIRCULATION

Cardiac Myosin-Binding Protein C Mutations and Hypertrophic Cardiomyopathy

(2009) Sabine J. van Dijk et al.   CIRCULATION

Nonsense-Mediated mRNA Decay and Ubiquitin–Proteasome System Regulate Cardiac Myosin-Binding Protein C Mutant Levels in Cardiomyopathic Mice

(2009) Nicolas Vignier et al.   CIRCULATION RESEARCH

The Calsequestrin Mutation CASQ2D307HDoes Not Affect Protein Stability and Targeting to the Junctional Sarcoplasmic Reticulum but Compromises Its Dynamic Regulation of Calcium Buffering

(2009) Anuradha Kalyanasundaram et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

β-Adrenergic receptor signaling in the heart: Role of CaMKII

(2009) Michael Grimm et al.   JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY

The RYR2-Encoded Ryanodine Receptor/Calcium Release Channel in Patients Diagnosed Previously With Either Catecholaminergic Polymorphic Ventricular Tachycardia or Genotype Negative, Exercise-Induced Long QT Syndrome

(2009) Argelia Medeiros-Domingo et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Reengineering a receptor footprint of adeno-associated virus enables selective and systemic gene transfer to muscle

(2009) Aravind Asokan et al.   NATURE BIOTECHNOLOGY

Flecainide prevents catecholaminergic polymorphic ventricular tachycardia in mice and humans

(2009) Hiroshi Watanabe et al.   NATURE MEDICINE

The   isoform of CaM kinase II is required for pathological cardiac hypertrophy and remodeling after pressure overload

(2009) J. Backs et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Myocardial Adeno-Associated Virus Serotype 6–βARKct Gene Therapy Improves Cardiac Function and Normalizes the Neurohormonal Axis in Chronic Heart Failure

(2008) Giuseppe Rengo et al.   CIRCULATION

Molecular Mechanisms of Inherited Arrhythmias

(2008) Cordula Wolf et al.   CURRENT GENOMICS

Adeno-Associated Virus (AAV) Serotype 9 Provides Global Cardiac Gene Transfer Superior to AAV1, AAV6, AAV7, and AAV8 in the Mouse and Rat

(2008) Lawrence T. Bish et al.   HUMAN GENE THERAPY

Reversal of Cardiac Dysfunction After Long-Term Expression of SERCA2a by Gene Transfer in a Pre-Clinical Model of Heart Failure

(2008) Yoshiaki Kawase et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Analysis of AAV Serotypes 1–9 Mediated Gene Expression and Tropism in Mice After Systemic Injection

(2008) Carmela Zincarelli et al.   MOLECULAR THERAPY

Long-QT Syndrome

(2008) Dan M. Roden   NEW ENGLAND JOURNAL OF MEDICINE