4.8 Article

Efficient in vivo genome editing prevents hypertrophic cardiomyopathy in mice

相关参考文献

注意:仅列出部分参考文献,下载原文获取全部文献信息。
Review Genetics & Heredity

Variant interpretation using population databases: Lessons from gnomAD

Sanna Gudmundsson et al.

Summary: Reference population databases are crucial for variant and gene interpretation, aiding in identifying pathogenic variants and discovering new disease-gene relationships. The Genome Aggregation Database is currently the largest and most widely utilized collection of population variation, accessible through the gnomAD browser for rapid and intuitive variant analysis.

HUMAN MUTATION (2022)

Review Genetics & Heredity

Drug delivery systems for RNA therapeutics

Kalina Paunovska et al.

Summary: This article provides an overview of the importance of RNA-based gene therapy and describes the molecular mechanisms of RNA therapies and different drug delivery systems. It also discusses the path from preclinical research to clinical approval for these therapies.

NATURE REVIEWS GENETICS (2022)

Review Biochemistry & Molecular Biology

Therapeutic in vivo delivery of gene editing agents

Aditya Raguram et al.

Summary: In vivo gene editing therapies have the potential to treat the underlying causes of genetic diseases. This review examines current delivery technologies for therapeutic in vivo gene editing, including viral vectors, lipid nanoparticles, and virus-like particles. The benefits and drawbacks of each method are compared, and opportunities for future improvements are highlighted.
Article Multidisciplinary Sciences

Ablation of lysophosphatidic acid receptor 1 attenuates hypertrophic cardiomyopathy in a mouse model

Anna Axelsson Raja et al.

Summary: This study found that lysophosphatidic acid receptor 1 (LPAR1) plays a crucial role in the development of hypertrophy and fibrosis in a mouse model of hypertrophic cardiomyopathy (HCM). LPAR1 is primarily expressed by lymphatic endothelial cells (LECs) and cardiac fibroblasts in the heart. In addition, LPAR1 ablation affects the population and distribution of LECs and fibroblasts.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2022)

Article Engineering, Biomedical

Efficient in vivo base editing via single adeno-associated viruses with size-optimized genomes encoding compact adenine base editors

Jessie R. Davis et al.

Summary: Compact adenine base editors (ABEs) encoded within size-optimized genomes of adeno-associated viruses (AAVs) enable therapeutic base editing in mice at low doses and high editing efficiencies, simplifying AAV production and characterization.

NATURE BIOMEDICAL ENGINEERING (2022)

Article Multidisciplinary Sciences

In vivo base editing rescues Hutchinson-Gilford progeria syndrome in mice

Luke W. Koblan et al.

Summary: Using adenine base editor (ABE), researchers successfully corrected the pathogenic mutation in fibroblasts from children with Hutchinson-Gilford progeria syndrome, mitigating RNA mis-splicing, reducing progerin levels, and correcting nuclear abnormalities. In vivo base editing with AAV9 encoding ABE in transgenic mice resulted in substantial, durable correction of the mutation, restoration of normal RNA splicing, and improvement of vascular pathology, ultimately extending the lifespan of the mice. These findings demonstrate the potential of in vivo base editing as a treatment for genetic diseases.

NATURE (2021)

Article Cardiac & Cardiovascular Systems

Fibrosis in Hypertrophic Cardiomyopathy Patients With and Without Sarcomere Gene Mutations

Sirish Vullaganti et al.

Summary: HCM patients with identified sarcomere mutations have higher prevalence and extent of LGE, as well as higher regional ECV, compared to those without identified mutations, suggesting a potential link between fibrosis and worse outcomes in patients with identified HCM mutations.

HEART LUNG AND CIRCULATION (2021)

Article Biotechnology & Applied Microbiology

In vivo adenine base editing of PCSK9 in macaques reduces LDL cholesterol levels

Tanja Rothgangl et al.

Summary: ABEs have been shown to effectively and safely reduce LDL levels in the livers of mice and cynomolgus macaques. Using lipid nanoparticle-based delivery of mRNA encoding an ABE and a sgRNA targeting PCSK9, significant reductions in PCSK9 and LDL levels were achieved in both species. Further research is warranted to explore the potential of ABEs in treating monogenic liver diseases.

NATURE BIOTECHNOLOGY (2021)

Article Multidisciplinary Sciences

Characteristics of left atrial remodeling in patients with atrial fibrillation and hypertrophic cardiomyopathy in comparison to patients without hypertrophy

Sotirios Nedios et al.

Summary: LA remodeling in patients with AF and HCM is characterized by asymmetric dilatation, driven by an anterior rather than a posterior dilatation. This can be characterized by three-dimensional imaging and could be used as a surrogate of advanced atrial remodeling.

SCIENTIFIC REPORTS (2021)

Article Cardiac & Cardiovascular Systems

Cardiovascular magnetic resonance predictors of heart failure in hypertrophic cardiomyopathy: the role of myocardial replacement fibrosis and the microcirculation

Claire E. Raphael et al.

Summary: HF incidence is low in HCM patients undergoing CMR. Myocardial fibrosis and LVESVI are strong predictors of future HF, while CMR visual assessment of myocardial perfusion does not predict outcomes.

JOURNAL OF CARDIOVASCULAR MAGNETIC RESONANCE (2021)

Article Biotechnology & Applied Microbiology

Continuous evolution of SpCas9 variants compatible with non-G PAMs

Shannon M. Miller et al.

NATURE BIOTECHNOLOGY (2020)

Article Biotechnology & Applied Microbiology

Directed evolution of adenine base editors with increased activity and therapeutic application

Nicole M. Gaudelli et al.

NATURE BIOTECHNOLOGY (2020)

Article Biotechnology & Applied Microbiology

Phage-assisted evolution of an adenine base editor with improved Cas domain compatibility and activity

Michelle F. Richter et al.

NATURE BIOTECHNOLOGY (2020)

Article Biochemistry & Molecular Biology

Solo: Doublet Identification in Single-Cell RNA-Seq via Semi-Supervised Deep Learning

Nicholas J. Bernstein et al.

CELL SYSTEMS (2020)

Review Biotechnology & Applied Microbiology

Genome editing with CRISPR-Cas nucleases, base editors, transposases and prime editors

Andrew V. Anzalone et al.

NATURE BIOTECHNOLOGY (2020)

Article Multidisciplinary Sciences

Cells of the adult human heart

Monika Litvinukova et al.

NATURE (2020)

Article Biochemistry & Molecular Biology

Unbiased investigation of specificities of prime editing systems in human cells

Do Yon Kim et al.

NUCLEIC ACIDS RESEARCH (2020)

Letter Biotechnology & Applied Microbiology

CRISPResso2 provides accurate and rapid genome editing sequence analysis

Kendell Clement et al.

NATURE BIOTECHNOLOGY (2019)

Review Genetics & Heredity

Advances in the Genetic Basis and Pathogenesis of Sarcomere Cardiomyopathies

Raquel Yotti et al.

ANNUAL REVIEW OF GENOMICS AND HUMAN GENETICS, VOL 20, 2019 (2019)

Article Multidisciplinary Sciences

Analysis and minimization of cellular RNA editing by DNA adenine base editors

Holly A. Rees et al.

SCIENCE ADVANCES (2019)

Article Multidisciplinary Sciences

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

Andrew V. Anzalone et al.

NATURE (2019)

Article Biochemical Research Methods

Fast, sensitive and accurate integration of single-cell data with Harmony

Ilya Korsunsky et al.

NATURE METHODS (2019)

Article Biochemical Research Methods

Elucidating the editome: bioinformatics approaches for RNA editing detection

Maria Angela Diroma et al.

BRIEFINGS IN BIOINFORMATICS (2019)

Article Biochemistry & Molecular Biology

ClinVar: improving access to variant interpretations and supporting evidence

Melissa J. Landrum et al.

NUCLEIC ACIDS RESEARCH (2018)

Article Cardiac & Cardiovascular Systems

Genetic Pathogenesis of Hypertrophic and Dilated Cardiomyopathy

Amanda C. Garfinkel et al.

HEART FAILURE CLINICS (2018)

Article Multidisciplinary Sciences

Engineered CRISPR-Cas9 nuclease with expanded targeting space

Hiroshi Nishimasu et al.

SCIENCE (2018)

Article Biochemical Research Methods

Defining CRISPR-Cas9 genome-wide nuclease activities with CIRCLE-seq

Cicera R. Lazzarotto et al.

NATURE PROTOCOLS (2018)

Article Cardiac & Cardiovascular Systems

Clinical outcomes associated with sarcomere mutations in hypertrophic cardiomyopathy: a meta-analysis on 7675 individuals

Farbod Sedaghat-Hamedani et al.

CLINICAL RESEARCH IN CARDIOLOGY (2018)

Article Multidisciplinary Sciences

Programmable base editing of A.T to G.C in genomic DNA without DNA cleavage

Nicole M. Gaudelli et al.

NATURE (2017)

Article Biochemical Research Methods

CIRCLE-seq: a highly sensitive in vitro screen for genome-wide CRISPR Cas9 nuclease off-targets

Shengdar Q. Tsai et al.

NATURE METHODS (2017)

Article Cardiac & Cardiovascular Systems

Evolution of hypertrophic cardiomyopathy in sarcomere mutation carriers

Carolyn Y. Ho et al.

Article Multidisciplinary Sciences

Programmable editing of a target base in genomic DNA without double-stranded DNA cleavage

Alexis C. Komor et al.

NATURE (2016)

Article Cardiac & Cardiovascular Systems

Dynamic regulation of atrial coronary blood flow in healthy adult pigs

Kelly A. van Bragt et al.

HEART RHYTHM (2015)

Article Cardiac & Cardiovascular Systems

Right Ventricular Remodeling, Its Correlates, and Its Clinical Impact in Hypertrophic Cardiomyopathy

Monica Rosca et al.

JOURNAL OF THE AMERICAN SOCIETY OF ECHOCARDIOGRAPHY (2015)

Article Medicine, Research & Experimental

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

Danos C. Christodoulou et al.

JOURNAL OF CLINICAL INVESTIGATION (2014)

Article Biotechnology & Applied Microbiology

Rapid, Simple, and Versatile Manufacturing of Recombinant Adeno-Associated Viral Vectors at Scale

Martin Lock et al.

HUMAN GENE THERAPY (2010)

Article Medicine, Research & Experimental

Cardiac fibrosis in mice with hypertrophic cardiomyopathy is mediated by non-myocyte proliferation and requires Tgf-β

Polakit Teekakirikul et al.

JOURNAL OF CLINICAL INVESTIGATION (2010)

Article Cardiac & Cardiovascular Systems

Diastolic Abnormalities as the First Feature of Hypertrophic Cardiomyopathy in Dutch Myosin-Binding Protein C Founder Mutations

Michelle Michels et al.

JACC-CARDIOVASCULAR IMAGING (2009)

Article Biotechnology & Applied Microbiology

Analysis of AAV serotypes 1-9 mediated gene expression and tropism in mice after systemic injection

Carmela Zincarelli et al.

MOLECULAR THERAPY (2008)

Article Multidisciplinary Sciences

Progressive vascular smooth muscle cell defects in a mouse model of Hutchinson-Gilford progeria syndrome

R Varga et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2006)