Novel Therapies for Prevention and Early Treatment of Cardiomyopathies

The Extracellular Protein, Transthyretin Is an Oxidative Stress Biomarker

(2019) Meesha Sharma et al.   Frontiers in Physiology

Hypertrophic cardiomyopathy mutations in MYBPC3 dysregulate myosin

(2019) Christopher N. Toepfer et al.   Science Translational Medicine

SarcTrack: An Adaptable Software Tool for Efficient Large-Scale Analysis of Sarcomere Function in hiPSC-Cardiomyocytes

(2019) Christopher N Toepfer et al.   CIRCULATION RESEARCH

Hypertrophy Regression With N-Acetylcysteine in Hypertrophic Cardiomyopathy (HALT-HCM)Novelty and Significance

(2018) Ali J. Marian et al.   CIRCULATION RESEARCH

Hypertrophic cardiomyopathy mutations increase myofilament Ca2+buffering, alter intracellular Ca2+handling, and stimulate Ca2+-dependent signaling

(2018) Paul Robinson et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

2017 ACC Expert Consensus Decision Pathway for Optimization of Heart Failure Treatment: Answers to 10 Pivotal Issues About Heart Failure With Reduced Ejection Fraction

(2018) Clyde W. Yancy et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Patisiran, an RNAi Therapeutic, for Hereditary Transthyretin Amyloidosis

(2018) David Adams et al.   NEW ENGLAND JOURNAL OF MEDICINE

Inotersen Treatment for Patients with Hereditary Transthyretin Amyloidosis

(2018) Merrill D. Benson et al.   NEW ENGLAND JOURNAL OF MEDICINE

Genetic Pathogenesis of Hypertrophic and Dilated Cardiomyopathy

(2018) Amanda C. Garfinkel et al.   Heart Failure Clinics

Gene Therapy via Trans -Splicing for LMNA -Related Congenital Muscular Dystrophy

(2018) Feriel Azibani et al.   Molecular Therapy-Nucleic Acids

OUP accepted manuscript

(2018)   EUROPEAN HEART JOURNAL

Tafamidis Treatment for Patients with Transthyretin Amyloid Cardiomyopathy

(2018) Mathew S. Maurer et al.   NEW ENGLAND JOURNAL OF MEDICINE

Deciphering the super relaxed state of human β-cardiac myosin and the mode of action of mavacamten from myosin molecules to muscle fibers

(2018) Robert L. Anderson et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Engineered DNA plasmid reduces immunity to dystrophin while improving muscle force in a model of gene therapy of Duchenne dystrophy

(2018) Peggy P. Ho et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Gene editing restores dystrophin expression in a canine model of Duchenne muscular dystrophy

(2018) Leonela Amoasii et al.   SCIENCE

CRISPR Correction of Duchenne Muscular Dystrophy

(2018) Yi-Li Min et al.   Annual Review of Medicine

Genotype and Lifetime Burden of Disease in Hypertrophic Cardiomyopathy

(2018) Carolyn Y. Ho et al.   CIRCULATION

One small edit for humans, one giant edit for humankind? Points and questions to consider for a responsible way forward for gene editing in humans

(2017) Heidi C. Howard et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Inhibition of miR-208b improves cardiac function in titin-based dilated cardiomyopathy

(2017) Qifeng Zhou et al.   INTERNATIONAL JOURNAL OF CARDIOLOGY

The novel cardiac z-disc protein CEFIP regulates cardiomyocyte hypertrophy by modulating calcineurin signaling

(2017) Franziska Dierck et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Omecamtiv Mecarbil Enhances the Duty Ratio of Human β-Cardiac Myosin Resulting in Increased Calcium Sensitivity and Slowed Force Development in Cardiac Muscle

(2017) Anja M. Swenson et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Truncating Titin ( TTN) Variants in Chemotherapy-Induced Cardiomyopathy

(2017) M. Linschoten et al.   JOURNAL OF CARDIAC FAILURE

Correction of a pathogenic gene mutation in human embryos

(2017) Hong Ma et al.   NATURE

Eplerenone for early cardiomyopathy in Duchenne muscular dystrophy: results of a two-year open-label extension trial

(2017) Subha V. Raman et al.   Orphanet Journal of Rare Diseases

Mechanistic and structural basis for activation of cardiac myosin force production by omecamtiv mecarbil

(2017) Vicente J. Planelles-Herrero et al.   Nature Communications

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

Effects of myosin variants on interacting-heads motif explain distinct hypertrophic and dilated cardiomyopathy phenotypes

(2017) Lorenzo Alamo et al.   eLife

Modeling Treatment Response for Lamin A/C Related Dilated Cardiomyopathy in Human Induced Pluripotent Stem Cells

(2017) Yee‐Ki Lee et al.   Journal of the American Heart Association

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

Therapeutic miRNA and siRNA: Moving from Bench to Clinic as Next Generation Medicine

(2017) Chiranjib Chakraborty et al.   Molecular Therapy-Nucleic Acids

MYBPC3 mutations are associated with a reduced super-relaxed state in patients with hypertrophic cardiomyopathy

(2017) James W. McNamara et al.   PLoS One

Suppressing transthyretin production in mice, monkeys and humans using 2nd-Generation antisense oligonucleotides

(2016) Elizabeth J. Ackermann et al.   AMYLOID-JOURNAL OF PROTEIN FOLDING DISORDERS

Current Diagnostic and Treatment Strategies for Specific Dilated Cardiomyopathies: A Scientific Statement From the American Heart Association

(2016) Biykem Bozkurt et al.   CIRCULATION

Role of chaperone-mediated autophagy in metabolism

(2016) Inmaculada Tasset et al.   FEBS Journal

Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples

(2016) Roddy Walsh et al.   GENETICS IN MEDICINE

Proceedings of the International Summit on Human Gene Editing: a global discussion—Washington, D.C., December 1–3, 2015

(2016) Andrew R. LaBarbera   JOURNAL OF ASSISTED REPRODUCTION AND GENETICS

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

Ablation of cardiac myosin binding protein-C disrupts the super-relaxed state of myosin in murine cardiomyocytes

(2016) James W. McNamara et al.   JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY

Genotype and Phenotype of Transthyretin Cardiac Amyloidosis

(2016) Mathew S. Maurer et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Chronic Oral Study of Myosin Activation to Increase Contractility in Heart Failure (COSMIC-HF): a phase 2, pharmacokinetic, randomised, placebo-controlled trial

(2016) John R Teerlink et al.   LANCET

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

(2016) Monkol Lek et al.   NATURE

Titin-truncating variants affect heart function in disease cohorts and the general population

(2016) Sebastian Schafer et al.   NATURE GENETICS

Phase II trial results of omecamtiv mecarbil

(2016) Gregory B. Lim   Nature Reviews Cardiology

Update on hypertrophic cardiomyopathy and a guide to the guidelines

(2016) Srijita Sen-Chowdhry et al.   Nature Reviews Cardiology

Shared Genetic Predisposition in Peripartum and Dilated Cardiomyopathies

(2016) James S. Ware et al.   NEW ENGLAND JOURNAL OF MEDICINE

Proposing a mechanism of action for ataluren

(2016) Nadeem Siddiqui et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

A small-molecule inhibitor of sarcomere contractility suppresses hypertrophic cardiomyopathy in mice

(2016) E. M. Green et al.   SCIENCE

N-acetylcysteine reverses diastolic dysfunction and hypertrophy in familial hypertrophic cardiomyopathy

(2015) Tanganyika Wilder et al.   AMERICAN JOURNAL OF PHYSIOLOGY-HEART AND CIRCULATORY PHYSIOLOGY

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

Contemporary Cardiac Issues in Duchenne Muscular Dystrophy: Table.

(2015) Elizabeth M. McNally et al.   CIRCULATION

Antisense-mediated exon skipping: a therapeutic strategy for titin-based dilated cardiomyopathy

(2015) M. Gramlich et al.   EMBO Molecular Medicine

New Perspectives on the Prevalence of Hypertrophic Cardiomyopathy

(2015) Christopher Semsarian et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Efficacy and safety of patisiran for familial amyloidotic polyneuropathy: a phase II multi-dose study

(2015) Ole B Suhr et al.   Orphanet Journal of Rare Diseases

Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease

(2015) Angharad M. Roberts et al.   Science Translational Medicine

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

(2015) Ioannis Karakikes et al.   Nature Communications

An internal promoter underlies the difference in disease severity between N- and C-terminal truncation mutations of Titin in zebrafish

(2015) Jun Zou et al.   eLife

siRNA Versus miRNA as Therapeutics for Gene Silencing

(2015) Jenny K W Lam et al.   Molecular Therapy-Nucleic Acids

Chronic Dosing with Membrane Sealant Poloxamer 188 NF Improves Respiratory Dysfunction in Dystrophic Mdx and Mdx/Utrophin-/- Mice

(2015) Bruce E. Markham et al.   PLoS One

Prevalence of Titin Truncating Variants in General Population

(2015) Oyediran Akinrinade et al.   PLoS One

FHL2 expression and variants in hypertrophic cardiomyopathy

(2014) Felix W. Friedrich et al.   BASIC RESEARCH IN CARDIOLOGY

Danon Disease

(2014) Ryan S. D’souza et al.   Circulation-Heart Failure

5′RNA-Seq identifies Fhl1 as a genetic modifier in cardiomyopathy

(2014) Danos C. Christodoulou et al.   JOURNAL OF CLINICAL INVESTIGATION

Angiotensin–Neprilysin Inhibition versus Enalapril in Heart Failure

(2014) John J.V. McMurray et al.   NEW ENGLAND JOURNAL OF MEDICINE

Prednisolone Attenuates Improvement of Cardiac and Skeletal Contractile Function and Histopathology by Lisinopril and Spironolactone in the mdx Mouse Model of Duchenne Muscular Dystrophy

(2014) Paul M. L. Janssen et al.   PLoS One

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

(2014) Giulia Mearini et al.   Nature Communications

Small molecule-mediated refolding and activation of myosin motor function

(2014) Michael B Radke et al.   eLife

Genetics and Genomics for the Prevention and Treatment of Cardiovascular Disease: Update

(2013) Santhi K. Ganesh et al.   CIRCULATION

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

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

Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing

(2013) Luis R Lopes et al.   JOURNAL OF MEDICAL GENETICS

Safety and Efficacy of RNAi Therapy for Transthyretin Amyloidosis

(2013) Teresa Coelho et al.   NEW ENGLAND JOURNAL OF MEDICINE

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

(2013) Jianming Jiang et al.   SCIENCE

Long‐Term miR‐669a Therapy Alleviates Chronic Dilated Cardiomyopathy in Dystrophic Mice

(2013) Mattia Quattrocelli et al.   Journal of the American Heart Association

Transthyretin (TTR) Cardiac Amyloidosis

(2012) Frederick L. Ruberg et al.   CIRCULATION

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

Hypertrophic cardiomyopathy

(2012) Barry J Maron et al.   LANCET

FHL2 Binds Calcineurin and Represses Pathological Cardiac Growth

(2012) B. Hojayev et al.   MOLECULAR AND CELLULAR BIOLOGY

Muscle Function Recovery in Golden Retriever Muscular Dystrophy After AAV1-U7 Exon Skipping

(2012) Adeline Vulin et al.   MOLECULAR THERAPY

Gene and cell-mediated therapies for muscular dystrophy

(2012) Patryk Konieczny et al.   MUSCLE & NERVE

Truncations of Titin Causing Dilated Cardiomyopathy

(2012) Daniel S. Herman et al.   NEW ENGLAND JOURNAL OF MEDICINE

DelK32-lamin A/C has abnormal location and induces incomplete tissue maturation and severe metabolic defects leading to premature death

(2011) Anne T. Bertrand et al.   HUMAN MOLECULAR GENETICS

miR669a and miR669q prevent skeletal muscle differentiation in postnatal cardiac progenitors

(2011) Stefania Crippa et al.   JOURNAL OF CELL BIOLOGY

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

2011 ACCF/AHA guideline for the diagnosis and treatment of hypertrophic cardiomyopathy: Executive summary

(2011) Bernard J. Gersh et al.   JOURNAL OF THORACIC AND CARDIOVASCULAR SURGERY

Cardiac Myosin Activation: A Potential Therapeutic Approach for Systolic Heart Failure

(2011) F. I. Malik et al.   SCIENCE

Metabolic Modulator Perhexiline Corrects Energy Deficiency and Improves Exercise Capacity in Symptomatic Hypertrophic Cardiomyopathy

(2010) Khalid Abozguia et al.   CIRCULATION

Efficient Transgene Reconstitution with Hybrid Dual AAV Vectors Carrying the Minimized Bridging Sequences

(2010) Arkasubhra Ghosh et al.   HUMAN GENE THERAPY

Chronic administration of membrane sealant prevents severe cardiac injury and ventricular dilatation in dystrophic dogs

(2010) DeWayne Townsend et al.   JOURNAL OF CLINICAL INVESTIGATION

Rescue of familial cardiomyopathies by modifications at the level of sarcomere and Ca2+ fluxes

(2010) Marco L. Alves et al.   JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY

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

Resolution of Established Cardiac Hypertrophy and Fibrosis and Prevention of Systolic Dysfunction in a Transgenic Rabbit Model of Human Cardiomyopathy Through Thiol-Sensitive Mechanisms

(2009) Raffaella Lombardi 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

MicroRNA-208a is a regulator of cardiac hypertrophy and conduction in mice

(2009) Thomas E. Callis et al.   JOURNAL OF CLINICAL INVESTIGATION

Identification of FHL1 as a regulator of skeletal muscle mass: implications for human myopathy

(2008) Belinda S. Cowling et al.   JOURNAL OF CELL BIOLOGY