En route towards a personalized medicine approach: Innovative therapeutic modalities for connective tissue disorders

RNA editing: Expanding the potential of RNA therapeutics

(2023) Brian J. Booth et al.   MOLECULAR THERAPY

Duchenne Muscular Dystrophy Gene Therapy in 2023: Status, Perspective, and Beyond

(2023) Dongsheng Duan   HUMAN GENE THERAPY

‘It’s a vote for hope’: first gene therapy for muscular dystrophy nears approval, but will it work?

(2023) Sara Reardon   NATURE

Dystrophin Immunity after Gene Therapy for Duchenne’s Muscular Dystrophy

(2023) Carsten G. Bönnemann et al.   NEW ENGLAND JOURNAL OF MEDICINE

Chemistry, structure and function of approved oligonucleotide therapeutics

(2023) Martin Egli et al.   NUCLEIC ACIDS RESEARCH

Prime editing: advances and therapeutic applications

(2023) Zhihan Zhao et al.   TRENDS IN BIOTECHNOLOGY

The Human Extracellular Matrix Diseasome Reveals Genotype–Phenotype Associations with Clinical Implications for Age-Related Diseases

(2023) Cyril Statzer et al.   Biomedicines

4‐PBA Treatment Improves Bone Phenotypes in the Aga2 Mouse Model of Osteogenesis Imperfecta

(2022) Ivan Duran et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Oligonucleotide Therapeutics: From Discovery and Development to Patentability

(2022) Lara Moumné et al.   Pharmaceutics

4PBA reduces growth deficiency in osteogenesis imperfecta by enhancing transition of hypertrophic chondrocytes to osteoblasts

(2022) Amanda L. Scheiber et al.   JCI Insight

Paired nicking-mediated COL17A1 reframing for junctional epidermolysis bullosa

(2022) Johannes Bischof et al.   MOLECULAR THERAPY

AAV-delivered suppressor tRNA overcomes a nonsense mutation in mice

(2022) Jiaming Wang et al.   NATURE

In vivo topical gene therapy for recessive dystrophic epidermolysis bullosa: a phase 1 and 2 trial

(2022) Irina Gurevich et al.   NATURE MEDICINE

CRISPR/Cas gene editing in the human germline

(2022) B. Bekaert et al.   SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY

Amelioration of muscle and nerve pathology of Lama2-related dystrophy by AAV9-laminin-αLN-linker protein

(2022) Karen K. McKee et al.   JCI Insight

NanoLuc reporters identify COL4A5 nonsense mutations susceptible to drug-induced stop codon readthrough

(2022) Kohei Omachi et al.   iScience

Trial of Beremagene Geperpavec (B-VEC) for Dystrophic Epidermolysis Bullosa

(2022) Shireen V. Guide et al.   NEW ENGLAND JOURNAL OF MEDICINE

Evolving AAV-delivered therapeutics towards ultimate cures

(2021) Xiangjun He et al.   JOURNAL OF MOLECULAR MEDICINE-JMM

Therapeutic promise of engineered nonsense suppressor tRNAs

(2021) Joseph J. Porter et al.   Wiley Interdisciplinary Reviews-RNA

Nonsense suppression therapies in human genetic diseases

(2021) Patrícia Martins-Dias et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

Personalized Development of Antisense Oligonucleotides for Exon Skipping Restores Type XVII Collagen Expression in Junctional Epidermolysis Bullosa

(2021) Michael Ablinger et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Proof-of-Concept: Antisense Oligonucleotide Mediated Skipping of Fibrillin-1 Exon 52

(2021) Jessica M. Cale et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Targeting cellular stress in vitro improves osteoblast homeostasis, matrix collagen content and mineralization in two murine models of osteogenesis imperfecta

(2021) Nadia Garibaldi et al.   MATRIX BIOLOGY

Novel Combinatorial MicroRNA-Binding Sites in AAV Vectors Synergistically Diminish Antigen Presentation and Transgene Immunity for Efficient and Stable Transduction

(2021) Manish Muhuri et al.   Frontiers in Immunology

Base editing repairs an SGCA mutation in human primary muscle stem cells

(2021) Helena Escobar et al.   JCI Insight

Application of prime editing to the correction of mutations and phenotypes in adult mice with liver and eye diseases

(2021) Hyewon Jang et al.   Nature Biomedical Engineering

Circumventing the packaging limit of AAV-mediated gene replacement therapy for neurological disorders

(2021) Lara Marrone et al.   EXPERT OPINION ON BIOLOGICAL THERAPY

Ataluren delays loss of ambulation and respiratory decline in nonsense mutation Duchenne muscular dystrophy patients

(2021) Craig M McDonald et al.   Journal of Comparative Effectiveness Research

Engineering adeno-associated virus vectors for gene therapy

(2020) Chengwen Li et al.   NATURE REVIEWS GENETICS

Screening Readthrough Compounds to Suppress Nonsense Mutations: Possible Application to β-Thalassemia

(2020) Monica Borgatti et al.   Journal of Clinical Medicine

Optimization of antisense-mediated exon skipping for Duchenne muscular dystrophy

(2020) Kasia Dzierlega et al.   GENE THERAPY

Laminin-111 protein therapy after disease onset slows muscle disease in a mouse model of Laminin-α2 related congenital muscular dystrophy

(2020) Pamela Barraza-Flores et al.   HUMAN MOLECULAR GENETICS

Development of an exon skipping therapy for X-linked Alport syndrome with truncating variants in COL4A5

(2020) Tomohiko Yamamura et al.   Nature Communications

Viltolarsen: First Approval

(2020) Sohita Dhillon   DRUGS

The delivery challenge: fulfilling the promise of therapeutic genome editing

(2020) Joost van Haasteren et al.   NATURE BIOTECHNOLOGY

Assessment of Systemic Delivery of rAAVrh74.MHCK7.micro-dystrophin in Children With Duchenne Muscular Dystrophy

(2020) Jerry R. Mendell et al.   JAMA Neurology

Human laminin-111 and laminin-211 protein therapy prevents muscle disease progression in an immunodeficient mouse model of LAMA2-CMD

(2020) Pamela Barraza-Flores et al.   Skeletal Muscle

The fibrillin microfibril/elastic fibre network: A critical extracellular supramolecular scaffold to balance skin homoeostasis

(2020) Christin S. Adamo et al.   EXPERIMENTAL DERMATOLOGY

The Platform Vector Gene Therapies Project: Increasing the Efficiency of Adeno-Associated Virus Gene Therapy Clinical Trial Startup

(2020) Philip J. Brooks et al.   HUMAN GENE THERAPY

Epidermolysis bullosa

(2020) Ajoy Bardhan et al.   Nature Reviews Disease Primers

Allele-Specific Chromosome Removal after Cas9 Cleavage in Human Embryos

(2020) Michael V. Zuccaro et al.   CELL

In vivo RNA editing of point mutations via RNA-guided adenosine deaminases

(2019) Dhruva Katrekar et al.   NATURE METHODS

Micro-dystrophin Genes Bring Hope of an Effective Therapy for Duchenne Muscular Dystrophy

(2019) Kay E. Davies et al.   MOLECULAR THERAPY

COL4A1 Mutations Cause Neuromuscular Disease with Tissue-Specific Mechanistic Heterogeneity

(2019) Cassandre Labelle-Dumais et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The role of fibrillin and microfibril binding proteins in elastin and elastic fibre assembly

(2019) Alan R.F. Godwin et al.   MATRIX BIOLOGY

A mutation-independent approach for muscular dystrophy via upregulation of a modifier gene

(2019) Dwi U. Kemaladewi et al.   NATURE

Recombinant Adeno-Associated Virus Gene Therapy in Light of Luxturna (and Zolgensma and Glybera): Where Are We, and How Did We Get Here?

(2019) Allison M. Keeler et al.   Annual Review of Virology

Muscular dystrophies

(2019) Eugenio Mercuri et al.   LANCET

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

(2019) Andrew V. Anzalone et al.   NATURE

Patient-Customized Oligonucleotide Therapy for a Rare Genetic Disease

(2019) Jinkuk Kim et al.   NEW ENGLAND JOURNAL OF MEDICINE

Alport syndrome and Pierson syndrome: Diseases of the glomerular basement membrane

(2018) Steven D. Funk et al.   MATRIX BIOLOGY

Eteplirsen treatment for Duchenne muscular dystrophy

(2018) Jay S. Charleston et al.   NEUROLOGY

Amelioration of Muscle and Nerve Pathology in LAMA2 Muscular Dystrophy by AAV9-Mini-Agrin

(2018) Chunping Qiao et al.   Molecular Therapy-Methods & Clinical Development

LAMA2 gene mutation update: Toward a more comprehensive picture of the laminin-α2 variome and its related phenotypes

(2018) Jorge Oliveira et al.   HUMAN MUTATION

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

(2018) Leonela Amoasii et al.   SCIENCE

Phenotypic Spectrum of Epidermolysis Bullosa: The Paradigm of Syndromic Versus Non-Syndromic Skin Fragility Disorders

(2018) Hassan Vahidnezhad et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Inosine induces context-dependent recoding and translational stalling

(2018) Konstantin Licht et al.   NUCLEIC ACIDS RESEARCH

Different Forms of ER Stress in Chondrocytes Result in Short Stature Disorders and Degenerative Cartilage Diseases: New Insights by Cartilage-Specific ERp57 Knockout Mice

(2018) Yvonne Rellmann et al.   Oxidative Medicine and Cellular Longevity

Recapitulating and Correcting Marfan Syndrome in a Cellular Model

(2017) Jung Woo Park et al.   International Journal of Biological Sciences

The provisional matrix: setting the stage for tissue repair outcomes

(2017) Thomas H. Barker et al.   MATRIX BIOLOGY

Provisional matrix: A role for versican and hyaluronan

(2017) Thomas N. Wight   MATRIX BIOLOGY

Regeneration of the entire human epidermis using transgenic stem cells

(2017) Tobias Hirsch et al.   NATURE

RNA targeting with CRISPR–Cas13

(2017) Omar O. Abudayyeh et al.   NATURE

RNA editing with CRISPR-Cas13

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

Leveraging Rules of Nonsense-Mediated mRNA Decay for Genome Engineering and Personalized Medicine

(2016) Maximilian W. Popp et al.   CELL

Eteplirsen: First Global Approval

(2016) Yahiya Y. Syed   DRUGS

An iPSC-derived vascular model of Marfan syndrome identifies key mediators of smooth muscle cell death

(2016) Alessandra Granata et al.   NATURE GENETICS

Antisense Oligonucleotide-mediated Exon Skipping as a Systemic Therapeutic Approach for Recessive Dystrophic Epidermolysis Bullosa

(2016) Jeroen Bremer et al.   Molecular Therapy-Nucleic Acids

Therapy for Dominant Inherited Diseases by Allele-Specific RNA Interference: Successes and Pitfalls

(2015) Delphine Trochet et al.   CURRENT GENE THERAPY

Nonsense suppression by near-cognate tRNAs employs alternative base pairing at codon positions 1 and 3

(2015) Bijoyita Roy et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Ataluren: First Global Approval

(2014) Nicola J. Ryan   DRUGS

Expanding the genetic editing tool kit: ZFNs, TALENs, and CRISPR-Cas9

(2014) Rajat M. Gupta et al.   JOURNAL OF CLINICAL INVESTIGATION

Prevention of muscular dystrophy in mice by CRISPR/Cas9-mediated editing of germline DNA

(2014) C. Long et al.   SCIENCE

Enhanced homology-directed human genome engineering by controlled timing of CRISPR/Cas9 delivery

(2014) Steven Lin et al.   eLife

Dystrophin levels and clinical severity in Becker muscular dystrophy patients

(2013) J. C. van den Bergen et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Ehlers–Danlos syndrome: A showcase of conditions that lead to understanding matrix biology

(2013) Peter H. Byers et al.   MATRIX BIOLOGY

RNA-Guided Human Genome Engineering via Cas9

(2013) P. Mali et al.   SCIENCE

Integrin α3Mutations with Kidney, Lung, and Skin Disease

(2012) Cristina Has et al.   NEW ENGLAND JOURNAL OF MEDICINE

Chronic ataluren (PTC124) treatment of nonsense mutation cystic fibrosis

(2011) M. Wilschanski et al.   EUROPEAN RESPIRATORY JOURNAL

Transgenic overexpression of the  7 integrin reduces muscle pathology and improves viability in the dyW mouse model of merosin-deficient congenital muscular dystrophy type 1A

(2011) J. A. Doe et al.   JOURNAL OF CELL SCIENCE

Gentamicin-induced readthrough of stop codons in Duchenne muscular dystrophy

(2010) Vinod Malik et al.   ANNALS OF NEUROLOGY

The Mechanism of Double-Strand DNA Break Repair by the Nonhomologous DNA End-Joining Pathway

(2010) Michael R. Lieber   Annual Review of Biochemistry

Read-Through Strategies for Suppression of Nonsense Mutations in Duchenne/ Becker Muscular Dystrophy: Aminoglycosides and Ataluren (PTC124)

(2010) Richard S. Finkel   JOURNAL OF CHILD NEUROLOGY

The revised Ghent nosology for the Marfan syndrome

(2010) B. L. Loeys et al.   JOURNAL OF MEDICAL GENETICS

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

Adeno-associated virus gene repair corrects a mouse model of hereditary tyrosinemia in vivo

(2009) Nicole K. Paulk et al.   HEPATOLOGY

Genotype-phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database: a model of nationwide knowledgebase

(2009) Sylvie Tuffery-Giraud et al.   HUMAN MUTATION

Worldwide Epidemiology of Neutralizing Antibodies to Adeno‐Associated Viruses

(2009) Roberto Calcedo et al.   JOURNAL OF INFECTIOUS DISEASES

First-in-human Mutation-targeted siRNA Phase Ib Trial of an Inherited Skin Disorder

(2009) Sancy A Leachman et al.   MOLECULAR THERAPY

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

(2008) Juan Li et al.   HUMAN GENE THERAPY

A meta-analysis of nonsense mutations causing human genetic disease

(2008) Matthew Mort et al.   HUMAN MUTATION