Evaluation of cytosine base editing and adenine base editing as a potential treatment for alpha-1 antitrypsin deficiency

In vivo cytidine base editing of hepatocytes without detectable off-target mutations in RNA and DNA

(2021) Lukas Villiger et al.   Nature Biomedical Engineering

Improved prime editors enable pathogenic allele correction and cancer modelling in adult mice

(2021) Pengpeng Liu et al.   Nature Communications

Adenine base editing reduces misfolded protein accumulation and toxicity in alpha-1 antitrypsin deficient patient iPSC-hepatocytes

(2021) Rhiannon B. Werder et al.   MOLECULAR THERAPY

CRISPR-Cas9 In Vivo Gene Editing for Transthyretin Amyloidosis

(2021) Julian D. Gillmore et al.   NEW ENGLAND JOURNAL OF MEDICINE

The mutational constraint spectrum quantified from variation in 141,456 humans

(2020) Konrad J. Karczewski et al.   NATURE

Directed evolution of adenine base editors with increased activity and therapeutic application

(2020) Nicole M. Gaudelli et al.   NATURE BIOTECHNOLOGY

Alpha1-Antitrypsin Deficiency

(2020) Pavel Strnad et al.   NEW ENGLAND JOURNAL OF MEDICINE

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

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

Development of an RNAi therapeutic for alpha-1-antitrypsin liver disease

(2020) Christine I. Wooddell et al.   JCI Insight

Base editing: advances and therapeutic opportunities

(2020) Elizabeth M. Porto et al.   NATURE REVIEWS DRUG DISCOVERY

Functionalized lipid-like nanoparticles for in vivo mRNA delivery and base editing

(2020) Xinfu Zhang et al.   Science Advances

Genome-wide target specificity of CRISPR RNA-guided adenine base editors

(2019) Daesik Kim et al.   NATURE BIOTECHNOLOGY

Adenine base editing in an adult mouse model of tyrosinaemia

(2019) Chun-Qing Song et al.   Nature Biomedical Engineering

Amelioration of Alpha-1 Antitrypsin Deficiency Diseases with Genome Editing in Transgenic Mice

(2018) Shen Shen et al.   HUMAN GENE THERAPY

In vivo Genome Editing Partially Restores Alpha1-Antitrypsin in a Murine Model of AAT Deficiency

(2018) Chun-Qing Song et al.   HUMAN GENE THERAPY

Lipid Nanoparticles Enabling Gene Therapies: From Concepts to Clinical Utility

(2018) Jayesh A. Kulkarni et al.   Nucleic Acid Therapeutics

Base editing: precision chemistry on the genome and transcriptome of living cells

(2018) Holly A. Rees et al.   NATURE REVIEWS GENETICS

Down-regulation of hepatocyte nuclear factor-4α and defective zonation in livers expressing mutant Z α1-antitrypsin

(2017) Pasquale Piccolo et al.   HEPATOLOGY

Survival Advantage of Both Human Hepatocyte Xenografts and Genome-Edited Hepatocytes for Treatment of α-1 Antitrypsin Deficiency

(2017) Florie Borel et al.   MOLECULAR THERAPY

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

(2017) Nicole M. Gaudelli et al.   NATURE

Improved base excision repair inhibition and bacteriophage Mu Gam protein yields C:G-to-T:A base editors with higher efficiency and product purity

(2017) Alexis C. Komor et al.   Science Advances

Applications of lipid nanoparticles in gene therapy

(2016) Ana del Pozo-Rodríguez et al.   EUROPEAN JOURNAL OF PHARMACEUTICS AND BIOPHARMACEUTICS

Application of lipid nanoparticles to ocular drug delivery

(2016) Luigi Battaglia et al.   Expert Opinion on Drug Delivery

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

(2016) Alexis C. Komor et al.   NATURE

α1-Antitrypsin deficiency

(2016) Catherine M. Greene et al.   Nature Reviews Disease Primers

Efficient and Targeted Transduction of Nonhuman Primate Liver With Systemically Delivered Optimized AAV3B Vectors

(2015) Shaoyong Li et al.   MOLECULAR THERAPY

An Orthogonal Array Optimization of Lipid-like Nanoparticles for mRNA Delivery in Vivo

(2015) Bin Li et al.   NANO LETTERS

The molecular and cellular pathology of α1-antitrypsin deficiency

(2013) Bibek Gooptu et al.   TRENDS IN MOLECULAR MEDICINE

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

NIH Image to ImageJ: 25 years of image analysis

(2012) Caroline A Schneider et al.   NATURE METHODS

Alpha-1 Antitrypsin Deficiency: Pathogenesis, Clinical Presentation, Diagnosis, and Treatment

(2008) Thomas Köhnlein et al.   AMERICAN JOURNAL OF MEDICINE