Gene Therapy in Rare Respiratory Diseases: What Have We Learned So Far?

The effects of electroporation buffer composition on cell viability and electro-transfection efficiency

(2020) Joseph J. Sherba et al.   Scientific Reports

Animal Models in the Pathophysiology of Cystic Fibrosis

(2019) Anna Semaniakou et al.   Frontiers in Pharmacology

TALEN-Mediated Gene Targeting for Cystic Fibrosis-Gene Therapy

(2019) Emily Xia et al.   Genes

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

(2019) Laura Marquez Loza et al.   Genes

A transgenic zebrafish model of hepatocyte function in human Z α1-antitrypsin deficiency

(2019) Evelyn Yip et al.   BIOLOGICAL CHEMISTRY

Advances in gene therapy for cystic fibrosis lung disease

(2019) Ziying Yan et al.   HUMAN MOLECULAR GENETICS

A combined in silico and in vitro study on mouse Serpina1a antitrypsin-deficiency mutants

(2019) Reto Eggenschwiler et al.   Scientific Reports

Efficient Gene Editing at Major CFTR Mutation Loci

(2019) Jinxue Ruan et al.   Molecular Therapy-Nucleic Acids

Targeted in vivo knock-in of human alpha-1-antitrypsin cDNA using adenoviral delivery of CRISPR/Cas9

(2018) Calvin J. Stephens et al.   GENE THERAPY

Transducing Airway Basal Cells with a Helper-Dependent Adenoviral Vector for Lung Gene Therapy

(2018) Huibi Cao et al.   HUMAN GENE THERAPY

CRISPR therapeutic tools for complex genetic disorders and cancer (Review)

(2018) Stella Baliou et al.   INTERNATIONAL JOURNAL OF ONCOLOGY

Paired D10A Cas9 nickases are sometimes more efficient than individual nucleases for gene disruption

(2018) Ramu Gopalappa et al.   NUCLEIC ACIDS RESEARCH

Alpha-1 antitrypsin deficiency: outstanding questions and future directions

(2018) María Torres-Durán et al.   Orphanet Journal of Rare Diseases

Editing out fiveSerpina1paralogs to create a mouse model of genetic emphysema

(2018) Florie Borel et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Chitosan in Non-Viral Gene Delivery: Role of Structure, Characterization Methods, and Insights in Cancer and Rare Diseases Therapies

(2018) Beatriz Santos-Carballal et al.   Polymers

Therapeutic Genome Editing With CRISPR/Cas9 in a Humanized Mouse Model Ameliorates α1-antitrypsin Deficiency Phenotype

(2018) Mikael Bjursell et al.   EBioMedicine

Go-ahead for first in-body CRISPR medicine testing

(2018) Cormac Sheridan   NATURE BIOTECHNOLOGY

Cystic Fibrosis Gene Therapy: Looking Back, Looking Forward

(2018) Ashley Cooney et al.   Genes

Designing an Elusive C•G→G•C CRISPR Base Editor

(2018) Kiran S. Gajula   TRENDS IN BIOCHEMICAL SCIENCES

Genetic Modification of the Lung Directed Toward Treatment of Human Disease

(2017) Dolan Sondhi et al.   HUMAN GENE THERAPY

Efficacy and safety of voretigene neparvovec (AAV2-hRPE65v2) in patients with RPE65 -mediated inherited retinal dystrophy: a randomised, controlled, open-label, phase 3 trial

(2017) Stephen Russell et al.   LANCET

5 Year Expression and Neutrophil Defect Repair after Gene Therapy in Alpha-1 Antitrypsin Deficiency

(2017) Christian Mueller et al.   MOLECULAR THERAPY

Dendrimers as Nanocarriers for Nucleic Acid and Drug Delivery in Cancer Therapy

(2017) Livia Palmerston Mendes et al.   MOLECULES

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

(2017) Nicole M. Gaudelli et al.   NATURE

Generation of a gene-corrected isogenic control iPSC line from cystic fibrosis patient-specific iPSCs homozygous for p.Phe508del mutation mediated by TALENs and ssODN

(2017) Sylvia Merkert et al.   Stem Cell Research

TrypTag.org: A Trypanosome Genome-wide Protein Localisation Resource

(2017) Samuel Dean et al.   TRENDS IN PARASITOLOGY

Optimizing conditions for calcium phosphate mediated transient transfection

(2017) Ling Guo et al.   SAUDI JOURNAL OF BIOLOGICAL SCIENCES

Experimental animal models for COPD: a methodological review

(2017) Vahideh Ghorani et al.   Tobacco Induced Diseases

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

Gene editing ofDNAH11restores normal cilia motility in primary ciliary dyskinesia

(2016) Michele Lai et al.   JOURNAL OF MEDICAL GENETICS

Diagnosis of Primary Ciliary Dyskinesia by a Targeted Next-Generation Sequencing Panel

(2016) Francesca Boaretto et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Cystic Fibrosis

(2016) Marie-Luise Brennan et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Motile and non-motile cilia in human pathology: from function to phenotypes

(2016) Hannah M Mitchison et al.   JOURNAL OF PATHOLOGY

Efficacy of hydrodynamic interleukin 10 gene transfer in human liver segments with interest in transplantation

(2016) Luis Sendra Gisbert et al.   LIVER TRANSPLANTATION

Inorganic nanoparticles for biomedicine: where materials scientists meet medical research

(2016) Juan J. Giner-Casares et al.   Materials Today

High-fidelity CRISPR–Cas9 nucleases with no detectable genome-wide off-target effects

(2016) Benjamin P. Kleinstiver et al.   NATURE

Genome-wide specificities of CRISPR-Cas Cpf1 nucleases in human cells

(2016) Benjamin P Kleinstiver et al.   NATURE BIOTECHNOLOGY

Genetics and biology of primary ciliary dyskinesia

(2016) Amjad Horani et al.   Paediatric Respiratory Reviews

Studying Closed Hydrodynamic Models of “In Vivo” DNA Perfusion in Pig Liver for Gene Therapy Translation to Humans

(2016) Luis Sendra et al.   PLoS One

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

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

TALENs Facilitate Single-step Seamless SDF Correction of F508del CFTR in Airway Epithelial Submucosal Gland Cell-derived CF-iPSCs

(2016) Shingo Suzuki et al.   Molecular Therapy-Nucleic Acids

A Phase I/IIa Safety and Efficacy Study of Nebulized Liposome-mediated Gene Therapy for Cystic Fibrosis Supports a Multidose Trial

(2015) Eric W. F. W. Alton et al.   AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE

Intraciliary Calcium Oscillations Initiate Vertebrate Left-Right Asymmetry

(2015) Shiaulou Yuan et al.   CURRENT BIOLOGY

Challenges and Prospects for Alpha-1 Antitrypsin Deficiency Gene Therapy

(2015) Joanna Wozniak et al.   HUMAN GENE THERAPY

Efficient and Allele-Specific Genome Editing of Disease Loci in Human iPSCs

(2015) Cory Smith et al.   MOLECULAR THERAPY

In vivo genome editing using Staphylococcus aureus Cas9

(2015) F. Ann Ran et al.   NATURE

Rationally engineered Cas9 nucleases with improved specificity

(2015) I. M. Slaymaker et al.   SCIENCE

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

Symmetry breakage in the vertebrate embryo: When does it happen and how does it work?

(2014) Martin Blum et al.   DEVELOPMENTAL BIOLOGY

Restoring ciliary function to differentiated primary ciliary dyskinesia cells with a lentiviral vector

(2014) L E Ostrowski et al.   GENE THERAPY

CRISPR/Cas9 for genome editing: progress, implications and challenges

(2014) F. Zhang et al.   HUMAN MOLECULAR GENETICS

Gold nanoparticles explore cells: Cellular uptake and their use as intracellular probes

(2014) Anna Huefner et al.   METHODS

Repurposing CRISPR as an RNA-Guided Platform for Sequence-Specific Control of Gene Expression

(2013) Lei S. Qi et al.   CELL

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

(2013) Gerald Schwank et al.   Cell Stem Cell

Non-Viral Gene Delivery Methods

(2013) Weiwei Wang et al.   CURRENT PHARMACEUTICAL BIOTECHNOLOGY

The Smart Targeting of Nanoparticles

(2013) Adam Friedman et al.   CURRENT PHARMACEUTICAL DESIGN

Efficient drug screening and gene correction for treating liver disease using patient-specific stem cells

(2013) Su Mi Choi et al.   HEPATOLOGY

CRISPR RNA–guided activation of endogenous human genes

(2013) Morgan L Maeder et al.   NATURE METHODS

Physical Non-Viral Gene Delivery Methods for Tissue Engineering

(2012) Adam J. Mellott et al.   ANNALS OF BIOMEDICAL ENGINEERING

Mouse models of ciliopathies: the state of the art

(2012) D. P. Norris et al.   Disease Models & Mechanisms

Comparative Processing and Function of Human and Ferret Cystic Fibrosis Transmembrane Conductance Regulator

(2012) John T. Fisher et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Sustained miRNA-mediated Knockdown of Mutant AAT With Simultaneous Augmentation of Wild-type AAT Has Minimal Effect on Global Liver miRNA Profiles

(2012) Christian Mueller et al.   MOLECULAR THERAPY

Mutations in Radial Spoke Head Genes and Ultrastructural Cilia Defects in East-European Cohort of Primary Ciliary Dyskinesia Patients

(2012) Ewa Ziętkiewicz et al.   PLoS One

Cas9-crRNA ribonucleoprotein complex mediates specific DNA cleavage for adaptive immunity in bacteria

(2012) G. Gasiunas et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

(2012) M. Jinek et al.   SCIENCE

Prevalence of α1-antitrypsin deficiency alleles PI*S and PI*Z worldwide and effective screening for each of the five phenotypic classes PI*MS, PI*MZ, PI*SS, PI*SZ, and PI*ZZ: a comprehensive review

(2012) Frederick J. de Serres et al.   Therapeutic Advances in Respiratory Disease

Regulation of ciliary motility: Conserved protein kinases and phosphatases are targeted and anchored in the ciliary axoneme

(2011) Maureen Wirschell et al.   ARCHIVES OF BIOCHEMISTRY AND BIOPHYSICS

Ciliary beat co-ordination by calcium

(2011) Andreas Schmid et al.   BIOLOGY OF THE CELL

Silica Nanoparticles as Promising Drug/Gene Delivery Carriers and Fluorescent Nano-Probes: Recent Advances

(2011) Y. Liu et al.   CURRENT CANCER DRUG TARGETS

Phase 2 Clinical Trial of a Recombinant Adeno-Associated Viral Vector Expressing α1-Antitrypsin: Interim Results

(2011) Terence R. Flotte et al.   HUMAN GENE THERAPY

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

(2011) Kosuke Yusa et al.   NATURE

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

(2011) Tomas Cermak et al.   NUCLEIC ACIDS RESEARCH

The pig: a model for human infectious diseases

(2011) François Meurens et al.   TRENDS IN MICROBIOLOGY

Mammalian cell transfection: the present and the future

(2010) Tae Kyung Kim et al.   ANALYTICAL AND BIOANALYTICAL CHEMISTRY

Preclinical Evaluation of a Recombinant Adeno-Associated Virus Vector Expressing Human Alpha-1 Antitrypsin Made Using a Recombinant Herpes Simplex Virus Production Method

(2010) Jeffrey D. Chulay et al.   HUMAN GENE THERAPY

Ex Vivo Transduction and Transplantation of Bone Marrow Cells for Liver Gene Delivery of α1-Antitrypsin

(2010) Hong Li et al.   MOLECULAR THERAPY

Toward Gene Therapy for Cystic Fibrosis Using a Lentivirus Pseudotyped With Sendai Virus Envelopes

(2010) Katsuyuki Mitomo et al.   MOLECULAR THERAPY

Establishment of lentiviral-vector-mediated model of human alpha-1 antitrypsin delivery into hepatocyte-like cells differentiated from mesenchymal stem cells

(2010) Mahboobe Ghaedi et al.   TISSUE & CELL

Conditional Deletion ofDnaic1in a Murine Model of Primary Ciliary Dyskinesia Causes Chronic Rhinosinusitis

(2009) Lawrence E. Ostrowski et al.   AMERICAN JOURNAL OF RESPIRATORY CELL AND MOLECULAR BIOLOGY

Amelioration of emphysema in mice through lentiviral transduction of long-lived pulmonary alveolar macrophages

(2009) Andrew A. Wilson et al.   JOURNAL OF CLINICAL INVESTIGATION

Lessons learned from the gene therapy trial for ornithine transcarbamylase deficiency

(2009) James M. Wilson   MOLECULAR GENETICS AND METABOLISM

Dual Reporter Comparative Indexing of rAAV Pseudotyped Vectors in Chimpanzee Airway

(2009) Terence R Flotte et al.   MOLECULAR THERAPY

Directed evolution of adeno-associated virus to an infectious respiratory virus

(2009) K. J. D. A. Excoffon et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Sustained transgene expression despite T lymphocyte responses in a clinical trial of rAAV1-AAT gene therapy

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

Sustained Expression of α1-Antitrypsin after Transplantation of Manipulated Hematopoietic Stem Cells

(2008) Andrew A. Wilson et al.   AMERICAN JOURNAL OF RESPIRATORY CELL AND MOLECULAR BIOLOGY

Cilia orientation and the fluid mechanics of development

(2008) Wallace F Marshall et al.   CURRENT OPINION IN CELL BIOLOGY

Recombinant AAV Serotype and Capsid Mutant Comparison for Pulmonary Gene Transfer of α-1-Antitrypsin Using Invasive and Noninvasive Delivery

(2008) Rejean Liqun Wang et al.   MOLECULAR THERAPY