New developments in the use of gene therapy to treat Duchenne muscular dystrophy

UtroUp is a novel six zinc finger artificial transcription factor that recognises 18 base pairs of the utrophin promoter and efficiently drives utrophin upregulation

(2013) Annalisa Onori et al.   BMC MOLECULAR BIOLOGY

Influence of diverse chemical modifications on the ADME characteristics and toxicology of antisense oligonucleotides

(2013) Mehrdad Dirin et al.   EXPERT OPINION ON BIOLOGICAL THERAPY

Gene Correction of a Duchenne Muscular Dystrophy Mutation by Meganuclease-Enhanced Exon Knock-In

(2013) Linda Popplewell et al.   HUMAN GENE THERAPY

Reading Frame Correction by Targeted Genome Editing Restores Dystrophin Expression in Cells From Duchenne Muscular Dystrophy Patients

(2013) David G Ousterout et al.   MOLECULAR THERAPY

TALENs and ZFNs are associated with different mutation signatures

(2013) Yongsub Kim et al.   NATURE METHODS

Dystrophin rescue by trans -splicing: a strategy for DMD genotypes not eligible for exon skipping approaches

(2013) Stéphanie Lorain et al.   NUCLEIC ACIDS RESEARCH

The small molecule Retro-1 enhances the pharmacological actions of antisense and splice switching oligonucleotides

(2013) Xin Ming et al.   NUCLEIC ACIDS RESEARCH

Optimization of scarless human stem cell genome editing

(2013) Luhan Yang et al.   NUCLEIC ACIDS RESEARCH

Interplay between DMD Point Mutations and Splicing Signals in Dystrophinopathy Phenotypes

(2013) Jonàs Juan-Mateu et al.   PLoS One

Effective Exon Skipping and Dystrophin Restoration by 2′-O-Methoxyethyl Antisense Oligonucleotide in Dystrophin-Deficient Mice

(2013) Lu Yang et al.   PLoS One

An ex vivo gene therapy approach to treat muscular dystrophy using inducible pluripotent stem cells

(2013) Antonio Filareto et al.   Nature Communications

The Cellular Processing Capacity Limits the Amounts of Chimeric U7 snRNA Available for Antisense Delivery

(2013) Agathe Eckenfelder et al.   Molecular Therapy-Nucleic Acids

Improved Performance of Anti-miRNA Oligonucleotides Using a Novel Non-Nucleotide Modifier

(2013) Kim A Lennox et al.   Molecular Therapy-Nucleic Acids

Targeted Myostatin Gene Editing in Multiple Mammalian Species Directed by a Single Pair of TALE Nucleases

(2013) Li Xu et al.   Molecular Therapy-Nucleic Acids

Exosomes as nucleic acid nanocarriers

(2012) Jasper G. van den Boorn et al.   ADVANCED DRUG DELIVERY REVIEWS

Pharmacologically Targeting the Primary Defect and Downstream Pathology in Duchenne Muscular Dystrophy

(2012) Rebecca J. Fairclough et al.   CURRENT GENE THERAPY

TALE nucleases: tailored genome engineering made easy

(2012) Claudio Mussolino et al.   CURRENT OPINION IN BIOTECHNOLOGY

Rescue of severely affected dystrophin/utrophin-deficient mice through scAAV-U7snRNA-mediated exon skipping

(2012) Aurélie Goyenvalle et al.   HUMAN MOLECULAR GENETICS

Read-through compound 13 restores dystrophin expression and improves muscle function in the mdx mouse model for Duchenne muscular dystrophy

(2012) Refik Kayali et al.   HUMAN MOLECULAR GENETICS

Exosomes and microvesicles: extracellular vesicles for genetic information transfer and gene therapy

(2012) Y. Lee et al.   HUMAN MOLECULAR GENETICS

Optimized TAL effector nucleases (TALENs) for use in treatment of sickle cell disease

(2012) Ning Sun et al.   Molecular BioSystems

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

(2012) Adeline Vulin et al.   MOLECULAR THERAPY

Targeted gene knockout by direct delivery of zinc-finger nuclease proteins

(2012) Thomas Gaj et al.   NATURE METHODS

Exosome-mediated delivery of siRNA in vitro and in vivo

(2012) Samir El-Andaloussi et al.   Nature Protocols

Differential integrity of TALE nuclease genes following adenoviral and lentiviral vector gene transfer into human cells

(2012) Maarten Holkers et al.   NUCLEIC ACIDS RESEARCH

Assessment of the structural and functional impact of in-frame mutations of the DMD gene, using the tools included in the eDystrophin online database

(2012) Aurélie Nicolas et al.   Orphanet Journal of Rare Diseases

Bodywide skipping of exons 45-55 in dystrophic mdx52 mice by systemic antisense delivery

(2012) Y. Aoki et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Dantrolene Enhances Antisense-Mediated Exon Skipping in Human and Mouse Models of Duchenne Muscular Dystrophy

(2012) G. C. Kendall et al.   Science Translational Medicine

Targeted Exon Skipping to Address “Leaky” Mutations in the Dystrophin Gene

(2012) Sue Fletcher et al.   Molecular Therapy-Nucleic Acids

Long-term Exon Skipping Studies With 2′-O-Methyl Phosphorothioate Antisense Oligonucleotides in Dystrophic Mouse Models

(2012) Christa L Tanganyika-de Winter et al.   Molecular Therapy-Nucleic Acids

Dual Myostatin and Dystrophin Exon Skipping by Morpholino Nucleic Acid Oligomers Conjugated to a Cell-penetrating Peptide Is a Promising Therapeutic Strategy for the Treatment of Duchenne Muscular Dystrophy

(2012) Alberto Malerba et al.   Molecular Therapy-Nucleic Acids

Pip6-PMO, A New Generation of Peptide-oligonucleotide Conjugates With Improved Cardiac Exon Skipping Activity for DMD Treatment

(2012) Corinne Betts et al.   Molecular Therapy-Nucleic Acids

Pathophysiology and Therapy of Cardiac Dysfunction in Duchenne Muscular Dystrophy

(2011) Daniel P. Judge et al.   American Journal of Cardiovascular Drugs

Generation of Isogenic Pluripotent Stem Cells Differing Exclusively at Two Early Onset Parkinson Point Mutations

(2011) Frank Soldner et al.   CELL

Delivery of AAV2/9-Microdystrophin Genes Incorporating Helix 1 of the Coiled-Coil Motif in the C-Terminal Domain of Dystrophin Improves Muscle Pathology and Restores the Level of α1-Syntrophin and α-Dystrobrevin in Skeletal Muscles of mdx Mice

(2011) Taeyoung Koo et al.   HUMAN GENE THERAPY

Zinc-Finger Nucleases for Somatic Gene Therapy: The Next Frontier

(2011) Shamim H. Rahman et al.   HUMAN GENE THERAPY

Novel Mini–Dystrophin Gene Dual Adeno-Associated Virus Vectors Restore Neuronal Nitric Oxide Synthase Expression at the Sarcolemma

(2011) Yadong Zhang et al.   HUMAN GENE THERAPY

RNA Aptamer Evolution: Two Decades of SELEction

(2011) Guillermo Aquino-Jarquin et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Endonucleases: tools to correct the dystrophin gene

(2011) Joel Rousseau et al.   JOURNAL OF GENE MEDICINE

Long-term functional adeno-associated virus-microdystrophin expression in the dystrophic CXMDj dog

(2011) Taeyoung Koo et al.   JOURNAL OF GENE MEDICINE

Exon skipping and dystrophin restoration in patients with Duchenne muscular dystrophy after systemic phosphorodiamidate morpholino oligomer treatment: an open-label, phase 2, dose-escalation study

(2011) Sebahattin Cirak et al.   LANCET

Pip5 Transduction Peptides Direct High Efficiency Oligonucleotide-mediated Dystrophin Exon Skipping in Heart and Phenotypic Correction in mdx Mice

(2011) HaiFang Yin et al.   MOLECULAR THERAPY

Long-term Restoration of Cardiac Dystrophin Expression in Golden Retriever Muscular Dystrophy Following rAAV6-mediated Exon Skipping

(2011) Lawrence T Bish et al.   MOLECULAR THERAPY

Phase 1 Gene Therapy for Duchenne Muscular Dystrophy Using a Translational Optimized AAV Vector

(2011) Dawn E Bowles et al.   MOLECULAR THERAPY

Cardiomyopathy of duchenne muscular dystrophy: Current understanding and future directions

(2011) Christopher F. Spurney   MUSCLE & NERVE

Targeted gene correction of α1-antitrypsin deficiency in induced pluripotent stem cells

(2011) Kosuke Yusa et al.   NATURE

Genetic engineering of human pluripotent cells using TALE nucleases

(2011) Dirk Hockemeyer et al.   NATURE BIOTECHNOLOGY

High-frequency genome editing using ssDNA oligonucleotides with zinc-finger nucleases

(2011) Fuqiang Chen et al.   NATURE METHODS

Multiple exon skipping strategies to by-pass dystrophin mutations

(2011) Carl F. Adkin et al.   NEUROMUSCULAR DISORDERS

Systemic Administration of PRO051 in Duchenne's Muscular Dystrophy

(2011) Nathalie M. Goemans et al.   NEW ENGLAND JOURNAL OF MEDICINE

Efficient design and assembly of custom TALEN and other TAL effector-based constructs for DNA targeting

(2011) Tomas Cermak et al.   NUCLEIC ACIDS RESEARCH

A novel TALE nuclease scaffold enables high genome editing activity in combination with low toxicity

(2011) Claudio Mussolino et al.   NUCLEIC ACIDS RESEARCH

Daily Treatment with SMTC1100, a Novel Small Molecule Utrophin Upregulator, Dramatically Reduces the Dystrophic Symptoms in the mdx Mouse

(2011) Jonathon M. Tinsley et al.   PLoS One

In Situ Genetic Correction of the Sickle Cell Anemia Mutation in Human Induced Pluripotent Stem Cells Using Engineered Zinc Finger Nucleases

(2011) Vittorio Sebastiano et al.   STEM CELLS

Chemical treatment enhances skipping of a mutated exon in the dystrophin gene

(2011) Atsushi Nishida et al.   Nature Communications

Long-Term Systemic Administration of Unconjugated Morpholino Oligomers for Therapeutic Expression of Dystrophin by Exon Skipping in Skeletal Muscle: Implications for Cardiac Muscle Integrity

(2011) Alberto Malerba et al.   Nucleic Acid Therapeutics

XanthomonasAvrBs3 Family-Type III Effectors: Discovery and Function

(2010) Jens Boch et al.   Annual Review of Phytopathology

Meganucleases can restore the reading frame of a mutated dystrophin

(2010) P Chapdelaine et al.   GENE THERAPY

Targeted Genome Modification in Mice Using Zinc-Finger Nucleases

(2010) I. D. Carbery et al.   GENETICS

Site-directed gene repair of the dystrophin gene mediated by PNA–ssODNs

(2010) Refik Kayali et al.   HUMAN MOLECULAR GENETICS

Administration of a soluble activin type IIB receptor promotes skeletal muscle growth independent of fiber type

(2010) Samuel M. Cadena et al.   JOURNAL OF APPLIED PHYSIOLOGY

Targeted Intracellular Delivery of Antisense Oligonucleotides via Conjugation with Small-Molecule Ligands

(2010) Osamu Nakagawa et al.   JOURNAL OF THE AMERICAN CHEMICAL SOCIETY

Guanine Analogues Enhance Antisense Oligonucleotide-induced Exon Skipping in Dystrophin Gene In Vitro and In Vivo

(2010) Yihong Hu et al.   MOLECULAR THERAPY

One-year Treatment of Morpholino Antisense Oligomer Improves Skeletal and Cardiac Muscle Functions in Dystrophic mdx Mice

(2010) Bo Wu et al.   MOLECULAR THERAPY

Antisense-induced Myostatin Exon Skipping Leads to Muscle Hypertrophy in Mice Following Octa guanidine Morpholino Oligomer Treatment

(2010) Jagjeet K Kang et al.   MOLECULAR THERAPY

Chronic Systemic Therapy With Low-dose Morpholino Oligomers Ameliorates the Pathology and Normalizes Locomotor Behavior in mdx Mice

(2010) Alberto Malerba et al.   MOLECULAR THERAPY

A TALE nuclease architecture for efficient genome editing

(2010) Jeffrey C Miller et al.   NATURE BIOTECHNOLOGY

Comparative analysis of antisense oligonucleotide sequences targeting exon 53 of the human DMD gene: Implications for future clinical trials

(2010) Linda J. Popplewell et al.   NEUROMUSCULAR DISORDERS

Dystrophin Immunity in Duchenne's Muscular Dystrophy

(2010) Jerry R. Mendell et al.   NEW ENGLAND JOURNAL OF MEDICINE

A Duchenne Muscular Dystrophy Gene Hot Spot Mutation in Dystrophin-Deficient Cavalier King Charles Spaniels Is Amenable to Exon 51 Skipping

(2010) Gemma L. Walmsley et al.   PLoS One

Exon Exchange Approach to Repair Duchenne Dystrophin Transcripts

(2010) Stéphanie Lorain et al.   PLoS One

Antisense PMO Found in Dystrophic Dog Model Was Effective in Cells from Exon 7-Deleted DMD Patient

(2010) Takashi Saito et al.   PLoS One

Marginal Level Dystrophin Expression Improves Clinical Outcome in a Strain of Dystrophin/Utrophin Double Knockout Mice

(2010) Dejia Li et al.   PLoS One

Gene targeting by homologous recombination in mouse zygotes mediated by zinc-finger nucleases

(2010) M. Meyer et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Efficacy of systemic morpholino exon-skipping in duchenne dystrophy dogs

(2009) Toshifumi Yokota et al.   ANNALS OF NEUROLOGY

Genetic correction of splice site mutation in purified and enriched myoblasts isolated from mdx5cv mice

(2009) Katie Maguire et al.   BMC MOLECULAR BIOLOGY

Long-term improvement in mdx cardiomyopathy after therapy with peptide-conjugated morpholino oligomers†

(2009) Natee Jearawiriyapaisarn et al.   CARDIOVASCULAR RESEARCH

Dystrophin restoration in skeletal, heart and skin arrector pili smooth muscle of mdx mice by ZM2 NP–AON complexes

(2009) A Ferlini et al.   GENE THERAPY

Dosing Regimen Has a Significant Impact on the Efficiency of Morpholino Oligomer-Induced Exon Skipping in mdx Mice

(2009) Alberto Malerba et al.   HUMAN GENE THERAPY

Fate of Recombinant Adeno-Associated Viral Vector Genomes During DNA Double-Strand Break-Induced Gene Targeting in Human Cells

(2009) Katharina Gellhaus et al.   HUMAN GENE THERAPY

A fusion peptide directs enhanced systemic dystrophin exon skipping and functional restoration in dystrophin-deficient mdx mice

(2009) HaiFang Yin et al.   HUMAN MOLECULAR GENETICS

Theoretic applicability of antisense-mediated exon skipping for Duchenne muscular dystrophy mutations

(2009) Annemieke Aartsma-Rus et al.   HUMAN MUTATION

Dystrophins carrying spectrin-like repeats 16 and 17 anchor nNOS to the sarcolemma and enhance exercise performance in a mouse model of muscular dystrophy

(2009) Yi Lai et al.   JOURNAL OF CLINICAL INVESTIGATION

Intracellular small interfering RNA delivery using genetically engineered double-stranded RNA binding protein domain

(2009) Juwon Kim et al.   JOURNAL OF GENE MEDICINE

Local restoration of dystrophin expression with the morpholino oligomer AVI-4658 in Duchenne muscular dystrophy: a single-blind, placebo-controlled, dose-escalation, proof-of-concept study

(2009) Maria Kinali et al.   LANCET NEUROLOGY

Octa-guanidine Morpholino Restores Dystrophin Expression in Cardiac and Skeletal Muscles and Ameliorates Pathology in Dystrophic mdx Mice

(2009) Bo Wu et al.   MOLECULAR THERAPY

Enhanced Exon-skipping Induced by U7 snRNA Carrying a Splicing Silencer Sequence: Promising Tool for DMD Therapy

(2009) Aurélie Goyenvalle et al.   MOLECULAR THERAPY

Cationic PMMA Nanoparticles Bind and Deliver Antisense Oligoribonucleotides Allowing Restoration of Dystrophin Expression in the mdx Mouse

(2009) Paola Rimessi et al.   MOLECULAR THERAPY

Identification of Small Molecule and Genetic Modulators of AON-Induced Dystrophin Exon Skipping by High-Throughput Screening

(2009) Debra A. O'Leary et al.   PLoS One

Adeno-Associated Virus-8-Mediated Intravenous Transfer of Myostatin Propeptide Leads to Systemic Functional Improvements of Slow but Not Fast Muscle

(2009) Keith Foster et al.   REJUVENATION RESEARCH

Breaking the Code of DNA Binding Specificity of TAL-Type III Effectors

(2009) J. Boch et al.   SCIENCE

Microbubble Stability is a Major Determinant of the Efficiency of Ultrasound and Microbubble Mediated in vivo Gene Transfer

(2009) Julia Alter et al.   ULTRASOUND IN MEDICINE AND BIOLOGY

Formulation of polylactide-co-glycolic acid nanospheres for encapsulation and sustained release of poly(ethylene imine)-poly(ethylene glycol) copolymers complexed to oligonucleotides

(2009) Shashank R Sirsi et al.   JOURNAL OF NANOBIOTECHNOLOGY

A phase I/IItrial of MYO-029 in adult subjects with muscular dystrophy

(2008) Kathryn R. Wagner et al.   ANNALS OF NEUROLOGY

Nanopolymers improve delivery of exon skipping oligonucleotides and concomitant dystrophin expression in skeletal muscle of mdx mice

(2008) Jason H Williams et al.   BMC BIOTECHNOLOGY

Correction of dystrophia myotonica type 1 pre-mRNA transcripts by artificial trans-splicing

(2008) H Y Chen et al.   GENE THERAPY

Long-Term Benefit of Adeno-Associated Virus/Antisense-Mediated Exon Skipping in Dystrophic Mice

(2008) Michela Alessandra Denti et al.   HUMAN GENE THERAPY

Protein Trans-Splicing as a Means for Viral Vector-Mediated In Vivo Gene Therapy

(2008) Juan Li et al.   HUMAN GENE THERAPY

Myostatin Propeptide Gene Delivery by Adeno-Associated Virus Serotype 8 Vectors Enhances Muscle Growth and Ameliorates Dystrophic Phenotypes in mdx Mice

(2008) Chunping Qiao et al.   HUMAN GENE THERAPY

RNAi-mediated knockdown of dystrophin expression in adult mice does not lead to overt muscular dystrophy pathology

(2008) Mohammad M. Ghahramani Seno et al.   HUMAN MOLECULAR GENETICS

Molecular diagnosis of Duchenne/Becker muscular dystrophy: enhanced detection of dystrophin gene rearrangements by oligonucleotide array-comparative genomic hybridization

(2008) Daniela del Gaudio et al.   HUMAN MUTATION

Integrated DNA, cDNA, and protein studies in Becker muscular dystrophy show high exception to the reading frame rule

(2008) Akanchha Kesari et al.   HUMAN MUTATION

Rapid “Open-Source” Engineering of Customized Zinc-Finger Nucleases for Highly Efficient Gene Modification

(2008) Morgan L. Maeder et al.   MOLECULAR CELL

Zinc-finger Nucleases: The Next Generation Emerges

(2008) Toni Cathomen et al.   MOLECULAR THERAPY

Recombinant Adeno-associated Virus Transduction and Integration

(2008) Brian R Schultz et al.   MOLECULAR THERAPY

Codon and mRNA Sequence Optimization of Microdystrophin Transgenes Improves Expression and Physiological Outcome in Dystrophic mdx Mice Following AAV2/8 Gene Transfer

(2008) Helen Foster et al.   MOLECULAR THERAPY

Systemic Microdystrophin Gene Delivery Improves Skeletal Muscle Structure and Function in Old Dystrophic mdx Mice

(2008) Paul Gregorevic et al.   MOLECULAR THERAPY

Expanding or Restricting the Target Site Repertoire of Zinc-finger Nucleases: The Inter-domain Linker as a Major Determinant of Target Site Selectivity

(2008) Eva-Maria Händel et al.   MOLECULAR THERAPY

Unexpected failure rates for modular assembly of engineered zinc fingers

(2008) Cherie L Ramirez et al.   NATURE METHODS

In vivo delivery of naked antisense oligos in aged mdx mice: Analysis of dystrophin restoration in skeletal and cardiac muscle

(2008) Libero Vitiello et al.   NEUROMUSCULAR DISORDERS

Improved cell-penetrating peptide–PNA conjugates for splicing redirection in HeLa cells and exon skipping in mdx mouse muscle

(2008) Gabriela D. Ivanova et al.   NUCLEIC ACIDS RESEARCH

DNA-binding Specificity Is a Major Determinant of the Activity and Toxicity of Zinc-finger Nucleases

(2007) Tatjana I Cornu et al.   MOLECULAR THERAPY