The sustained expression of Cas9 targeting toxic RNAs reverses disease phenotypes in mouse models of myotonic dystrophy type 1

Loss of MBNL1 induces RNA misprocessing in the thymus and peripheral blood

(2020) Łukasz J. Sznajder et al.   Nature Communications

A large multicenter study of pediatric myotonic dystrophy type 1 for evidence-based management

(2019) Emmanuelle Lagrue et al.   NEUROLOGY

Long-term evaluation of AAV-CRISPR genome editing for Duchenne muscular dystrophy

(2019) Christopher E. Nelson et al.   NATURE MEDICINE

Multifunctional CRISPR-Cas9 with engineered immunosilenced human T cell epitopes

(2019) Shayesteh R. Ferdosi et al.   Nature Communications

Adeno-Associated Viral Vectors as a Tool for Large Gene Delivery to the Retina

(2019) Trapani   Genes

Genome Editing of Expanded CTG Repeats within the Human DMPK Gene Reduces Nuclear RNA Foci in the Muscle of DM1 Mice

(2019) Mirella Lo Scrudato et al.   MOLECULAR THERAPY

Spinal subpial delivery of AAV9 enables widespread gene silencing and blocks motoneuron degeneration in ALS

(2019) Mariana Bravo-Hernandez et al.   NATURE MEDICINE

Transcriptome Engineering with RNA-Targeting Type VI-D CRISPR Effectors

(2018) Silvana Konermann et al.   CELL

Cas13d Is a Compact RNA-Targeting Type VI CRISPR Effector Positively Modulated by a WYL-Domain-Containing Accessory Protein

(2018) Winston X. Yan et al.   MOLECULAR CELL

Identifying and avoiding off-target effects of RNase H-dependent antisense oligonucleotides in mice

(2018) Peter H Hagedorn et al.   NUCLEIC ACIDS RESEARCH

Efficient CRISPR/Cas9-mediated editing of trinucleotide repeat expansion in myotonic dystrophy patient-derived iPS and myogenic cells

(2018) Sumitava Dastidar et al.   NUCLEIC ACIDS RESEARCH

Cis - and Trans -Modifiers of Repeat Expansions: Blending Model Systems with Human Genetics

(2018) Ryan J. McGinty et al.   TRENDS IN GENETICS

Selection of GalNAc-conjugated siRNAs with limited off-target-driven rat hepatotoxicity

(2018) Maja M. Janas et al.   Nature Communications

Therapeutic Genome Editing for Myotonic Dystrophy Type 1 Using CRISPR/Cas9

(2018) Yanlin Wang et al.   MOLECULAR THERAPY

Simple sequence repeats showing ‘length preference’ have regulatory functions in humans

(2017) Jaya Krishnan et al.   GENE

Impeding Transcription of Expanded Microsatellite Repeats by Deactivated Cas9

(2017) Belinda S. Pinto et al.   MOLECULAR CELL

CRISPR/Cas9-Induced (CTG⋅CAG) n Repeat Instability in the Myotonic Dystrophy Type 1 Locus: Implications for Therapeutic Genome Editing

(2017) Ellen L. van Agtmaal et al.   MOLECULAR THERAPY

RNA editing with CRISPR-Cas13

(2017) David B. T. Cox et al.   SCIENCE

Rescue of Pompe disease in mice by AAV-mediated liver delivery of secretable acid α-glucosidase

(2017) Francesco Puzzo et al.   Science Translational Medicine

Aberrant Myokine Signaling in Congenital Myotonic Dystrophy

(2017) Masayuki Nakamori et al.   Cell Reports

CRISPR/Cas9-Mediated Deletion of CTG Expansions Recovers Normal Phenotype in Myogenic Cells Derived from Myotonic Dystrophy 1 Patients

(2017) Claudia Provenzano et al.   Molecular Therapy-Nucleic Acids

Programmable RNA Tracking in Live Cells with CRISPR/Cas9

(2016) David A. Nelles et al.   CELL

Disease-associated repeat instability and mismatch repair

(2016) Monika H.M. Schmidt et al.   DNA REPAIR

Copackaged AAV9 Vectors Promote Simultaneous Immune Tolerance and Phenotypic Correction of Pompe Disease

(2016) Phillip A. Doerfler et al.   HUMAN GENE THERAPY

Precise small-molecule recognition of a toxic CUG RNA repeat expansion

(2016) Suzanne G Rzuczek et al.   Nature Chemical Biology

RNA-binding protein CPEB1 remodels host and viral RNA landscapes

(2016) Ranjan Batra et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Cytokine Signaling in Skeletal Muscle Wasting

(2016) Jin Zhou et al.   TRENDS IN ENDOCRINOLOGY AND METABOLISM

Contracting CAG/CTG repeats using the CRISPR-Cas9 nickase

(2016) Cinzia Cinesi et al.   Nature Communications

RNA-binding protein CPEB1 remodels host and viral RNA landscapes

(2016) Ranjan Batra et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Dose-Dependent Regulation of Alternative Splicing by MBNL Proteins Reveals Biomarkers for Myotonic Dystrophy

(2016) Stacey D. Wagner et al.   PLoS Genetics

DNA Triplet Repeat Expansion and Mismatch Repair

(2015) Ravi R. Iyer et al.   Annual Review of Biochemistry

Therapeutic impact of systemic AAV-mediated RNA interference in a mouse model of myotonic dystrophy

(2015) Darren R. Bisset et al.   HUMAN MOLECULAR GENETICS

RNA Toxicity and Missplicing in the Common Eye Disease Fuchs Endothelial Corneal Dystrophy

(2015) Jintang Du et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Neonatal Systemic AAV Induces Tolerance to CNS Gene Therapy in MPS I Dogs and Nonhuman Primates

(2015) Christian Hinderer et al.   MOLECULAR THERAPY

Global insights into alternative polyadenylation regulation

(2015) Ranjan Batra et al.   RNA Biology

Loss of MBNL Leads to Disruption of Developmentally Regulated Alternative Polyadenylation in RNA-Mediated Disease

(2014) Ranjan Batra et al.   MOLECULAR CELL

Programmable RNA recognition and cleavage by CRISPR/Cas9

(2014) Mitchell R. O’Connell et al.   NATURE

Tissue specificity in DNA repair: lessons from trinucleotide repeat instability

(2014) Vincent Dion   TRENDS IN GENETICS

Splicing biomarkers of disease severity in myotonic dystrophy

(2013) Masayuki Nakamori et al.   ANNALS OF NEUROLOGY

Dynamic Imaging of Genomic Loci in Living Human Cells by an Optimized CRISPR/Cas System

(2013) Baohui Chen et al.   CELL

Myotonic dystrophy type 1 (DM1): A triplet repeat expansion disorder

(2013) Ashok Kumar et al.   GENE

Tissue-specific splicing of a ubiquitously expressed transcription factor is essential for muscle differentiation

(2013) S. Sebastian et al.   GENES & DEVELOPMENT

Progressive impairment of muscle regeneration in muscleblind-like 3 isoform knockout mice

(2013) Michael G. Poulos et al.   HUMAN MOLECULAR GENETICS

OLego: fast and sensitive mapping of spliced mRNA-Seq reads using small seeds

(2013) Jie Wu et al.   NUCLEIC ACIDS RESEARCH

Mouse model of muscleblind-like 1 overexpression: skeletal muscle effects and therapeutic promise

(2012) Christopher M. Chamberlain et al.   HUMAN MOLECULAR GENETICS

Targeting nuclear RNA for in vivo correction of myotonic dystrophy

(2012) Thurman M. Wheeler et al.   NATURE

Muscleblind-like 2-Mediated Alternative Splicing in the Developing Brain and Dysregulation in Myotonic Dystrophy

(2012) Konstantinos Charizanis et al.   NEURON

RNase H-mediated degradation of toxic RNA in myotonic dystrophy type 1

(2012) J. E. Lee et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Engineering RNA endonucleases with customized sequence specificities

(2012) Rajarshi Choudhury et al.   Nature Communications

An Antisense CAG Repeat Transcript at JPH3 Locus Mediates Expanded Polyglutamine Protein Toxicity in Huntington's Disease-like 2 Mice

(2011) Brian Wilburn et al.   NEURON

Expanded GGGGCC Hexanucleotide Repeat in Noncoding Region of C9ORF72 Causes Chromosome 9p-Linked FTD and ALS

(2011) Mariely DeJesus-Hernandez et al.   NEURON

A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD

(2011) Alan E. Renton et al.   NEURON

CUGBP1 overexpression in mouse skeletal muscle reproduces features of myotonic dystrophy type 1

(2010) Amanda J. Ward et al.   HUMAN MOLECULAR GENETICS

Argonaute proteins are key determinants of RNAi efficacy, toxicity, and persistence in the adult mouse liver

(2010) Dirk Grimm et al.   JOURNAL OF CLINICAL INVESTIGATION

Repeat expansion disease: progress and puzzles in disease pathogenesis

(2010) Albert R. La Spada et al.   NATURE REVIEWS GENETICS

Repeat instability as the basis for human diseases and as a potential target for therapy

(2010) Arturo López Castel et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Aberrant alternative splicing and extracellular matrix gene expression in mouse models of myotonic dystrophy

(2010) Hongqing Du et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Improved Induction of Immune Tolerance to Factor IX by Hepatic AAV-8 Gene Transfer

(2009) Mario Cooper et al.   HUMAN GENE THERAPY

Systematic and integrative analysis of large gene lists using DAVID bioinformatics resources

(2009) Da Wei Huang et al.   Nature Protocols

Pathogenic RNAs in microsatellite expansion disease

(2009) Jihae Shin et al.   NEUROSCIENCE LETTERS

A myocardium tropic adeno-associated virus (AAV) evolved by DNA shuffling and in vivo selection

(2009) L. Yang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Reversal of RNA Dominance by Displacement of Protein Sequestered on Triplet Repeat RNA

(2009) T. M. Wheeler et al.   SCIENCE

Mechanisms of RNA-mediated Disease

(2008) Jason R. O'Rourke et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

The RNA-binding Protein CUGBP1 Regulates Stability of Tumor Necrosis Factor mRNA in Muscle Cells

(2008) Libin Zhang et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

A postnatal switch of CELF and MBNL proteins reprograms alternative splicing in the developing heart

(2008) A. Kalsotra et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA