Functional correction of CFTR mutations in human airway epithelial cells using adenine base editors

Targeting G542X CFTR nonsense alleles with ELX-02 restores CFTR function in human-derived intestinal organoids

(2021) Daniel K. Crawford et al.   Journal of Cystic Fibrosis

CRISPR-Based Adenine Editors Correct Nonsense Mutations in a Cystic Fibrosis Organoid Biobank

(2020) Maarten H. Geurts et al.   Cell Stem Cell

Evaluation and minimization of Cas9-independent off-target DNA editing by cytosine base editors

(2020) Jordan L. Doman et al.   NATURE BIOTECHNOLOGY

Continuous evolution of SpCas9 variants compatible with non-G PAMs

(2020) Shannon M. Miller et al.   NATURE BIOTECHNOLOGY

Cytosine and adenine base editing of the brain, liver, retina, heart and skeletal muscle of mice via adeno-associated viruses

(2020) Jonathan M. Levy et al.   Nature Biomedical Engineering

Highly Efficient Gene Editing of Cystic Fibrosis Patient-Derived Airway Basal Cells Results in Functional CFTR Correction

(2020) Shingo Suzuki et al.   MOLECULAR THERAPY

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

(2020) Michelle F. Richter et al.   NATURE BIOTECHNOLOGY

Unconstrained genome targeting with near-PAMless engineered CRISPR-Cas9 variants

(2020) Russell T. Walton et al.   SCIENCE

Chemical modifications of adenine base editor mRNA and guide RNA expand its application scope

(2020) Tingting Jiang et al.   Nature Communications

A bacterial cytidine deaminase toxin enables CRISPR-free mitochondrial base editing

(2020) Beverly Y. Mok et al.   NATURE

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

(2020) Andrew V. Anzalone et al.   NATURE BIOTECHNOLOGY

Secretory Cells Dominate Airway CFTR Expression and Function in Human Airway Superficial Epithelia

(2020) Kenichi Okuda et al.   AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE

Lentiviral Vectors for the Treatment and Prevention of Cystic Fibrosis Lung Disease

(2019) Laura Marquez Loza et al.   Genes

CRISPResso2 provides accurate and rapid genome editing sequence analysis

(2019) Kendell Clement et al.   NATURE BIOTECHNOLOGY

Circularly permuted and PAM-modified Cas9 variants broaden the targeting scope of base editors

(2019) Tony P. Huang et al.   NATURE BIOTECHNOLOGY

Advances in gene therapy for cystic fibrosis lung disease

(2019) Ziying Yan et al.   HUMAN MOLECULAR GENETICS

Continuous evolution of base editors with expanded target compatibility and improved activity

(2019) Benjamin W. Thuronyi et al.   NATURE BIOTECHNOLOGY

Making precision medicine personal for cystic fibrosis

(2019) Candela Manfredi et al.   SCIENCE

Emerging gene therapies for cystic fibrosis

(2019) Kamran M. Miah et al.   Expert Review of Respiratory Medicine

Allele specific repair of splicing mutations in cystic fibrosis through AsCas12a genome editing

(2019) Giulia Maule et al.   Nature Communications

Engineered amphiphilic peptides enable delivery of proteins and CRISPR-associated nucleases to airway epithelia

(2019) Sateesh Krishnamurthy et al.   Nature Communications

High-Efficiency, Selection-free Gene Repair in Airway Stem Cells from Cystic Fibrosis Patients Rescues CFTR Function in Differentiated Epithelia

(2019) Sriram Vaidyanathan et al.   Cell Stem Cell

Lipid Nanoparticle-Delivered Chemically Modified mRNA Restores Chloride Secretion in Cystic Fibrosis

(2018) Ema Robinson et al.   MOLECULAR THERAPY

Improving cytidine and adenine base editors by expression optimization and ancestral reconstruction

(2018) Luke W Koblan et al.   NATURE BIOTECHNOLOGY

Membrane permeabilizing amphiphilic peptide delivers recombinant transcription factor and CRISPR-Cas9/Cpf1 ribonucleoproteins in hard-to-modify cells

(2018) Thomas Del’Guidice et al.   PLoS One

Gene therapy comes of age

(2018) Cynthia E. Dunbar et al.   SCIENCE

In vivo base editing of post-mitotic sensory cells

(2018) Wei-Hsi Yeh et al.   Nature Communications

Correction of the Marfan Syndrome Pathogenic FBN1 Mutation by Base Editing in Human Cells and Heterozygous Embryos

(2018) Yanting Zeng et al.   MOLECULAR THERAPY

A single-cell atlas of the airway epithelium reveals the CFTR-rich pulmonary ionocyte

(2018) Lindsey W. Plasschaert et al.   NATURE

A revised airway epithelial hierarchy includes CFTR-expressing ionocytes

(2018) Daniel T. Montoro et al.   NATURE

An APOBEC3A-Cas9 base editor with minimized bystander and off-target activities

(2018) Jason M Gehrke et al.   NATURE BIOTECHNOLOGY

Engineered CRISPR-Cas9 nuclease with expanded targeting space

(2018) Hiroshi Nishimasu et al.   SCIENCE

Isogenic cell models of cystic fibrosis-causing variants in natively expressing pulmonary epithelial cells

(2018) Hillary C. Valley et al.   Journal of Cystic Fibrosis

VX-445–Tezacaftor–Ivacaftor in Patients with Cystic Fibrosis and One or Two Phe508del Alleles

(2018) Dominic Keating et al.   NEW ENGLAND JOURNAL OF MEDICINE

VX-659–Tezacaftor–Ivacaftor in Patients with Cystic Fibrosis and One or Two Phe508del Alleles

(2018) Jane C. Davies et al.   NEW ENGLAND JOURNAL OF MEDICINE

Chemically modified hCFTR mRNAs recuperate lung function in a mouse model of cystic fibrosis

(2018) A. K. M. Ashiqul Haque et al.   Scientific Reports

Cystic Fibrosis Gene Therapy: Looking Back, Looking Forward

(2018) Ashley Cooney et al.   Genes

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

(2017) Nicole M. Gaudelli et al.   NATURE

Increasing the genome-targeting scope and precision of base editing with engineered Cas9-cytidine deaminase fusions

(2017) Y Bill Kim et al.   NATURE BIOTECHNOLOGY

Hematopoietic Stem-Cell Gene Therapy for Cerebral Adrenoleukodystrophy

(2017) Florian Eichler et al.   NEW ENGLAND JOURNAL OF MEDICINE

Single-Dose Gene-Replacement Therapy for Spinal Muscular Atrophy

(2017) Jerry R. Mendell et al.   NEW ENGLAND JOURNAL OF MEDICINE

Hemophilia B Gene Therapy with a High-Specific-Activity Factor IX Variant

(2017) Lindsey A. George et al.   NEW ENGLAND JOURNAL OF MEDICINE

Correction of β-thalassemia mutant by base editor in human embryos

(2017) Puping Liang et al.   Protein & Cell

Cas9/gRNA targeted excision of cystic fibrosis-causing deep-intronic splicing mutations restores normal splicing of CFTR mRNA

(2017) David J. Sanz et al.   PLoS One

Discovery of Clinically Approved Agents That Promote Suppression of Cystic Fibrosis Transmembrane Conductance Regulator Nonsense Mutations

(2016) Venkateshwar Mutyam et al.   AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE

Limited premature termination codon suppression by read-through agents in cystic fibrosis intestinal organoids

(2016) D.D. Zomer-van Ommen et al.   Journal of Cystic Fibrosis

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

(2016) Alexis C. Komor et al.   NATURE

Relationships among CFTR expression, HCO3−secretion, and host defense may inform gene- and cell-based cystic fibrosis therapies

(2016) Viral S. Shah et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Preparation for a first-in-man lentivirus trial in patients with cystic fibrosis

(2016) Eric W F W Alton et al.   THORAX

Analysis of gene repair tracts from Cas9/gRNA double-stranded breaks in the human CFTR gene

(2016) Jennifer A. Hollywood et al.   Scientific Reports

ClinVar: public archive of interpretations of clinically relevant variants

(2015) Melissa J. Landrum et al.   NUCLEIC ACIDS RESEARCH

Nanoparticles that deliver triplex-forming peptide nucleic acid molecules correct F508del CFTR in airway epithelium

(2015) Nicole Ali McNeer et al.   Nature Communications

Functional Gene Correction for Cystic Fibrosis in Lung Epithelial Cells Generated from Patient iPSCs

(2015) Amy L. Firth et al.   Cell Reports

Repeated nebulisation of non-viral CFTR gene therapy in patients with cystic fibrosis: a randomised, double-blind, placebo-controlled, phase 2b trial

(2015) Eric W F W Alton et al.   Lancet Respiratory Medicine

Targeted Correction and Restored Function of the CFTR Gene in Cystic Fibrosis Induced Pluripotent Stem Cells

(2015) Ana M. Crane et al.   Stem Cell Reports

Airway Basal Stem/Progenitor Cells Have Diminished Capacity to Regenerate Airway Epithelium in Chronic Obstructive Pulmonary Disease

(2014) Michelle R. Staudt et al.   AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE

GUIDE-seq enables genome-wide profiling of off-target cleavage by CRISPR-Cas nucleases

(2014) Shengdar Q Tsai et al.   NATURE BIOTECHNOLOGY

Cystic fibrosis genetics: from molecular understanding to clinical application

(2014) Garry R. Cutting   NATURE REVIEWS GENETICS

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

(2014) Steven Lin et al.   eLife

Functional Repair of CFTR by CRISPR/Cas9 in Intestinal Stem Cell Organoids of Cystic Fibrosis Patients

(2013) Gerald Schwank et al.   Cell Stem Cell

Integrin α6β4 Identifies Human Distal Lung Epithelial Progenitor Cells with Potential as a Cell-Based Therapy for Cystic Fibrosis Lung Disease

(2013) Xiaopeng Li et al.   PLoS One

Lentiviral Hematopoietic Stem Cell Gene Therapy in Patients with Wiskott-Aldrich Syndrome

(2013) A. Aiuti et al.   SCIENCE

RNA-Guided Human Genome Engineering via Cas9

(2013) P. Mali et al.   SCIENCE

Multiplex Genome Engineering Using CRISPR/Cas Systems

(2013) L. Cong et al.   SCIENCE

A Programmable Dual-RNA-Guided DNA Endonuclease in Adaptive Bacterial Immunity

(2012) M. Jinek et al.   SCIENCE

AAV2 Gene Therapy Readministration in Three Adults with Congenital Blindness

(2012) J. Bennett et al.   Science Translational Medicine

Airway Epithelial Progenitors Are Region Specific and Show Differential Responses to Bleomycin-Induced Lung Injury

(2012) Huaiyong Chen et al.   STEM CELLS

Integrin α6β4 identifies an adult distal lung epithelial population with regenerative potential in mice

(2011) Harold A. Chapman et al.   JOURNAL OF CLINICAL INVESTIGATION

Adenovirus-Associated Virus Vector–Mediated Gene Transfer in Hemophilia B

(2011) Amit C. Nathwani et al.   NEW ENGLAND JOURNAL OF MEDICINE

A CFTR Potentiator in Patients with Cystic Fibrosis and theG551DMutation

(2011) Bonnie W. Ramsey et al.   NEW ENGLAND JOURNAL OF MEDICINE

Basal cells as stem cells of the mouse trachea and human airway epithelium

(2009) J. R. Rock et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Effectiveness of PTC124 treatment of cystic fibrosis caused by nonsense mutations: a prospective phase II trial

(2008) Eitan Kerem et al.   LANCET

Safety and Efficacy of Gene Transfer for Leber's Congenital Amaurosis

(2008) Albert M. Maguire et al.   NEW ENGLAND JOURNAL OF MEDICINE