Base editing correction of hypertrophic cardiomyopathy in human cardiomyocytes and humanized mice

[1]  Gregory A. Newby,et al.  Efficient in vivo genome editing prevents hypertrophic cardiomyopathy in mice , 2023, Nature Medicine.

[2]  S. Keam Mavacamten: First Approval , 2022, Drugs.

[3]  David R. Liu,et al.  Engineered virus-like particles for efficient in vivo delivery of therapeutic proteins , 2022, Cell.

[4]  A. Lee,et al.  Efficient Correction of a Hypertrophic Cardiomyopathy Mutation by ABEmax-NG , 2021, Circulation research.

[5]  A. Wagers,et al.  Directed evolution of a family of AAV capsid variants enabling potent muscle-directed gene delivery across species , 2021, Cell.

[6]  E. Olson,et al.  Cardiac Myoediting Attenuates Cardiac Abnormalities in Human and Mouse Models of Duchenne Muscular Dystrophy , 2021, Circulation research.

[7]  N. Smedira,et al.  Study Design and Rationale of VALOR-HCM: Evaluation of Mavacamten in Adults with Symptomatic Obstructive Hypertrophic Cardiomyopathy who are Eligible for Septal Reduction Therapy. , 2021, American heart journal.

[8]  E. Olson,et al.  Precise correction of Duchenne muscular dystrophy exon deletion mutations by base and prime editing , 2021, Science Advances.

[9]  David R. Liu,et al.  In Vivo Base Editing Rescues Hutchinson-Gilford Progeria Syndrome in Mice , 2020, Nature.

[10]  C. Tong,et al.  Preparation and Identification of Cardiac Myofibrils from Whole Heart Samples. , 2021, Methods in molecular biology.

[11]  S. Boye,et al.  Current Clinical Applications of In Vivo Gene Therapy with AAVs , 2020, Molecular therapy : the journal of the American Society of Gene Therapy.

[12]  D. Grimm,et al.  Identification of a myotropic AAV by massively parallel in vivo evaluation of barcoded capsid variants , 2020, Nature Communications.

[13]  David R. Liu,et al.  Restoration of visual function in adult mice with an inherited retinal disease via adenine base editing , 2020, Nature Biomedical Engineering.

[14]  J. Seidman,et al.  Genetic Studies of Hypertrophic Cardiomyopathy in Singaporeans Identify Variants in TNNI3 and TNNT2 That Are Common in Chinese Patients , 2020, Circulation. Genomic and precision medicine.

[15]  E. Olson,et al.  Protocol for Single-Nucleus Transcriptomics of Diploid and Tetraploid Cardiomyocytes in Murine Hearts , 2020, STAR protocols.

[16]  S. Solomon,et al.  Evaluation of Mavacamten in Symptomatic Patients With Nonobstructive Hypertrophic Cardiomyopathy. , 2020, Journal of the American College of Cardiology.

[17]  J. Spudich,et al.  The hypertrophic cardiomyopathy mutations R403Q and R663H increase the number of myosin heads available to interact with actin , 2020, Science Advances.

[18]  Benjamin P. Kleinstiver,et al.  Unconstrained genome targeting with near-PAMless engineered CRISPR-Cas9 variants , 2020, Science.

[19]  Kevin T. Zhao,et al.  Phage-assisted evolution of an adenine base editor with improved Cas domain compatibility and activity , 2020, Nature Biotechnology.

[20]  Qiang Cheng,et al.  Selective ORgan Targeting (SORT) nanoparticles for tissue specific mRNA delivery and CRISPR/Cas gene editing , 2020, Nature Nanotechnology.

[21]  J. F. Staples,et al.  Myosin Sequestration Regulates Sarcomere Function, Cardiomyocyte Energetics, and Metabolism, Informing the Pathogenesis of Hypertrophic Cardiomyopathy , 2020, Circulation.

[22]  David R. Liu,et al.  Cytosine and adenine base editing of the brain, liver, retina, heart and skeletal muscle of mice via adeno-associated viruses , 2019, Nature Biomedical Engineering.

[23]  Tony P. Huang,et al.  Circularly permuted and PAM-modified Cas9 variants broaden the targeting scope of base editors , 2019, Nature Biotechnology.

[24]  Alireza Hadj Khodabakhshi,et al.  Metascape provides a biologist-oriented resource for the analysis of systems-level datasets , 2019, Nature Communications.

[25]  B. Maron,et al.  Letter by Maron et al Regarding Article, "Genotype and Lifetime Burden of Disease in Hypertrophic Cardiomyopathy: Insights From the Sarcomeric Human Cardiomyopathy Registry (SHaRe)". , 2019, Circulation.

[26]  Matthew C. Canver,et al.  CRISPResso2 provides accurate and rapid genome editing sequence analysis , 2019, Nature Biotechnology.

[27]  Yu-Sheng Chen,et al.  A Contraction Stress Model of Hypertrophic Cardiomyopathy due to Sarcomere Mutations , 2018, Stem cell reports.

[28]  Nozomu Yachie,et al.  Engineered CRISPR-Cas9 nuclease with expanded targeting space , 2018, Science.

[29]  T. Weber,et al.  Human Cardiac Gene Therapy , 2018, Circulation research.

[30]  B. Maron,et al.  Clinical Course and Management of Hypertrophic Cardiomyopathy , 2018, The New England journal of medicine.

[31]  John R. Garbe,et al.  EditR: A Method to Quantify Base Editing from Sanger Sequencing , 2018, The CRISPR journal.

[32]  David R. Liu,et al.  Improving cytidine and adenine base editors by expression optimization and ancestral reconstruction , 2018, Nature Biotechnology.

[33]  Maximilian Haeussler,et al.  CRISPOR: intuitive guide selection for CRISPR/Cas9 genome editing experiments and screens , 2018, Nucleic Acids Res..

[34]  Masato Ohtsuka,et al.  Easi-CRISPR for creating knock-in and conditional knockout mouse models using long ssDNA donors , 2017, Nature Protocols.

[35]  Nicole M. Gaudelli,et al.  Programmable base editing of A•T to G•C in genomic DNA without DNA cleavage , 2017, Nature.

[36]  E. Braunwald,et al.  Hypertrophic Cardiomyopathy: Genetics, Pathogenesis, Clinical Manifestations, Diagnosis, and Therapy. , 2017, Circulation research.

[37]  Ana P. Teixeira,et al.  Distinct carbon sources affect structural and functional maturation of cardiomyocytes derived from human pluripotent stem cells , 2017, Scientific Reports.

[38]  J. Spudich,et al.  Hypertrophic cardiomyopathy and the myosin mesa: viewing an old disease in a new light , 2017, Biophysical Reviews.

[39]  S. Markova,et al.  A Small Molecule Inhibitor of Sarcomere Contractility Acutely Relieves Left Ventricular Outflow Tract Obstruction in Feline Hypertrophic Cardiomyopathy , 2016, PloS one.

[40]  David R. Liu,et al.  Programmable editing of a target base in genomic DNA without double-stranded DNA cleavage , 2016, Nature.

[41]  N. Rosenthal,et al.  Revisiting Cardiac Cellular Composition. , 2016, Circulation research.

[42]  Christine E. Seidman,et al.  A small-molecule inhibitor of sarcomere contractility suppresses hypertrophic cardiomyopathy in mice , 2016, Science.

[43]  J. Joung,et al.  High-fidelity CRISPR-Cas9 variants with undetectable genome-wide off-targets , 2015, Nature.

[44]  Meagan E. Sullender,et al.  Optimized sgRNA design to maximize activity and minimize off-target effects of CRISPR-Cas9 , 2015, Nature Biotechnology.

[45]  L. Zentilin,et al.  A mouse model for adult cardiac-specific gene deletion with CRISPR/Cas9 , 2015, Proceedings of the National Academy of Sciences.

[46]  Eduardo Kausel,et al.  Integrated Analysis of Contractile Kinetics, Force Generation, and Electrical Activity in Single Human Stem Cell-Derived Cardiomyocytes , 2015, Stem cell reports.

[47]  Barry J Maron,et al.  New perspectives on the prevalence of hypertrophic cardiomyopathy. , 2015, Journal of the American College of Cardiology.

[48]  M. Aon,et al.  Hypertrophic cardiomyopathy: a heart in need of an energy bar? , 2014, Front. Physiol..

[49]  Praveen Shukla,et al.  Chemically defined generation of human cardiomyocytes , 2014, Nature Methods.

[50]  David A. Scott,et al.  Genome engineering using the CRISPR-Cas9 system , 2013, Nature Protocols.

[51]  Christine E. Seidman,et al.  Allele-Specific Silencing of Mutant Myh6 Transcripts in Mice Suppresses Hypertrophic Cardiomyopathy , 2013, Science.

[52]  K. Ishikawa,et al.  Percutaneous methods of vector delivery in preclinical models , 2012, Gene Therapy.

[53]  B. Maron,et al.  Clinical challenges of genotype positive (+)-phenotype negative (-) family members in hypertrophic cardiomyopathy. , 2011, The American journal of cardiology.

[54]  S. Acton,et al.  Robust Cardiomyocyte-Specific Gene Expression Following Systemic Injection of AAV: In Vivo Gene Delivery Follows a Poisson Distribution , 2010, Gene Therapy.

[55]  Roger R Markwald,et al.  Cardiac fibrosis in mice with hypertrophic cardiomyopathy is mediated by non-myocyte proliferation and requires Tgf-β. , 2010, The Journal of clinical investigation.

[56]  Joachim Zettler,et al.  The naturally split Npu DnaE intein exhibits an extraordinarily high rate in the protein trans‐splicing reaction , 2009, FEBS letters.

[57]  E. Murphy,et al.  Gender-based differences in mechanisms of protection in myocardial ischemia-reperfusion injury. , 2007, Cardiovascular research.

[58]  J. Seidman,et al.  Single-molecule mechanics of R403Q cardiac myosin isolated from the mouse model of familial hypertrophic cardiomyopathy. , 2000, Circulation research.

[59]  Frederick J. Schoen,et al.  A Mouse Model of Familial Hypertrophic Cardiomyopathy , 1996, Science.

[60]  L. Fananapazir,et al.  Genotype-Phenotpe Correlations in Hypertrophic Cardiomyopathy Insights Provided by Comparisons of Kindreds With Distinct and Identical j3-Myosin Heavy Chain Gene Mutations , 2005 .

[61]  G. Lyons,et al.  Developmental regulation of myosin gene expression in mouse cardiac muscle , 1990, The Journal of cell biology.

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

[63]  A. Lompré,et al.  Species- and age-dependent changes in the relative amounts of cardiac myosin isoenzymes in mammals. , 1981, Developmental biology.

[64]  R. G. Fraser,et al.  Hereditary cardiovascular dysplasia. A form of familial cardiomyopathy. , 1961, The American journal of medicine.