4.7 Article

Therapeutic gene correction for Lesch-Nyhan syndrome using CRISPR-mediated base and prime editing

Related references

Note: Only part of the references are listed.
Article Biotechnology & Applied Microbiology

Engineered pegRNAs improve prime editing efficiency

James W. Nelson et al.

Summary: Prime editing technology enhances editing efficiency by optimizing the structure of pegRNAs, preventing degradation of the 3' region from affecting system activity, without increasing the risk of off-target editing.

NATURE BIOTECHNOLOGY (2022)

Article Engineering, Biomedical

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

Hyewon Jang et al.

Summary: Prime editing has shown the potential to precisely correct disease-causing mutations and ameliorate disease phenotypes in mouse models of genetic diseases. By identifying optimal guide RNAs, it can precisely target genes without detectable off-target edits. However, further validation in more animal models is necessary.

NATURE BIOMEDICAL ENGINEERING (2022)

Article Engineering, Biomedical

Restoration of visual function in adult mice with an inherited retinal disease via adenine base editing

Susie Suh et al.

Summary: Subretinal viral delivery of an adenine base editor and a single-guide RNA targeting a nonsense mutation in the Rpe65 gene restores near-normal levels of retinal and visual functions in mice.

NATURE BIOMEDICAL ENGINEERING (2021)

Article Biochemistry & Molecular Biology

Enhanced prime editing systems by manipulating cellular determinants of editing outcomes

Peter J. Chen et al.

Summary: The study found that DNA mismatch repair (MMR) hinders prime editing and promotes undesired byproducts, but the efficiency of substitution, small insertion, and small deletion edits can be enhanced by developing PE4 and PE5 prime editing systems. Strategic silent mutations near the intended edit and optimization of prime editor protein also contribute to improved editing outcomes.
Article Multidisciplinary Sciences

In vivo base editing rescues Hutchinson-Gilford progeria syndrome in mice

Luke W. Koblan et al.

Summary: Using adenine base editor (ABE), researchers successfully corrected the pathogenic mutation in fibroblasts from children with Hutchinson-Gilford progeria syndrome, mitigating RNA mis-splicing, reducing progerin levels, and correcting nuclear abnormalities. In vivo base editing with AAV9 encoding ABE in transgenic mice resulted in substantial, durable correction of the mutation, restoration of normal RNA splicing, and improvement of vascular pathology, ultimately extending the lifespan of the mice. These findings demonstrate the potential of in vivo base editing as a treatment for genetic diseases.

NATURE (2021)

Article Biotechnology & Applied Microbiology

Engineered prime editors with PAM flexibility

Jiyeon Kweon et al.

Summary: The engineered prime editors leverage various PAM-flexible Cas9 variants to broaden the range of target sites and achieve high editing activity, successfully generating multiple types of mutations in cells. Additionally, they successfully introduce mutations such as BRAF V600E that cannot be induced by conventional prime editors, expanding the applicability of CRISPR-based prime editing technologies in biological research.

MOLECULAR THERAPY (2021)

Article Cell & Tissue Engineering

Adenine base editing and prime editing of chemically derived hepatic progenitors rescue genetic liver disease

Yohan Kim et al.

Summary: DNA base editors and prime editing technology can be used for in situ correction of disease-causing alleles, with CdHs being a multipotent cell population with potential for treating genetic liver diseases.

CELL STEM CELL (2021)

Article Multidisciplinary Sciences

High-purity production and precise editing of DNA base editing ribonucleoproteins

Hyeon-Ki Jang et al.

Summary: Ribonucleoprotein (RNP) complex-mediated base editing is promising for therapeutic applications due to its reduced off-target effects. However, obtaining highly purified CBE/ABE proteins from bacterial systems is challenging. ABE RNPs showed significantly reduced off-target effects in both DNA and RNA compared to plasmid-encoded ABE.

SCIENCE ADVANCES (2021)

Review Biotechnology & Applied Microbiology

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

Andrew V. Anzalone et al.

NATURE BIOTECHNOLOGY (2020)

Article Endocrinology & Metabolism

Phenotypic and molecular spectrum of Korean patients with Lesch-Nyhan syndrome and attenuated clinical variants

Ja Hyang Cho et al.

METABOLIC BRAIN DISEASE (2019)

Article Multidisciplinary Sciences

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

Andrew V. Anzalone et al.

NATURE (2019)

Article Biotechnology & Applied Microbiology

Adenine base editing in mouse embryos and an adult mouse model of Duchenne muscular dystrophy

Seuk-Min Ryu et al.

NATURE BIOTECHNOLOGY (2018)

Article Biochemical Research Methods

Cas-analyzer: an online tool for assessing genome editing results using NGS data

Jeongbin Park et al.

BIOINFORMATICS (2017)

Article Multidisciplinary Sciences

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

Nicole M. Gaudelli et al.

NATURE (2017)

Article Biochemistry & Molecular Biology

Implications of human genetic variation in CRISPR-based therapeutic genome editing

David A. Scott et al.

NATURE MEDICINE (2017)

Article Multidisciplinary Sciences

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

Alexis C. Komor et al.

NATURE (2016)

Article Biochemistry & Molecular Biology

Human neural stem cells: a model system for the study of Lesch-Nyhan disease neurological aspects

Silvia Cristini et al.

HUMAN MOLECULAR GENETICS (2010)

Article Multidisciplinary Sciences

Haploid Genetic Screens in Human Cells Identify Host Factors Used by Pathogens

Jan E. Carette et al.

SCIENCE (2009)

Review Genetics & Heredity

Hypoxanthine-guanine phosophoribosyltransferase (HPRT) deficiency: Lesch-Nyhan syndrome

Rosa J. Torres et al.

ORPHANET JOURNAL OF RARE DISEASES (2007)

Article Endocrinology & Metabolism

Molecular, biochemical, and genetic characterization of a female patient with Lesch-Nyhan disease

C Rinat et al.

MOLECULAR GENETICS AND METABOLISM (2006)

Article Developmental Biology

Oxidative stress and dopamine deficiency in a genetic mouse model of Lesch-Nyhan disease

JE Visser et al.

DEVELOPMENTAL BRAIN RESEARCH (2002)