ArticlePloS one2018
A G542X cystic fibrosis mouse model for examining nonsense mutation directed therapies.
Article in PloS one, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 40 papers.
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Who cites it
40 citing papers in PubMed, 61 citations in OpenAlex.
- Amino acid-derived ionizable lipids enable inhaled base editing for therapeutic gene correction in the lung.Nature materials · 2026Article
- Intestinal adaptations increase basolateral intestinal glucose uptake and glycolysis in a mouse model of cystic fibrosis.American journal of physiology. Gastrointestinal and liver physiology · 2026Article
- Restoring chloride efflux in cystic fibrosis with TMEM16a antisense oligonucleotides.Molecular therapy : the journal of the American Society of Gene Therapy · 2025Article
- Diagnosis and Emerging Biomarkers of Cystic Fibrosis-Related Kidney Disease (CFKD).Journal of clinical medicine · 2025Review
- Genetic Heterogeneity Correlated with Phenotypic Variability in 48 Patients with Cystic Fibrosis.Journal of clinical medicine · 2025Article
- A W1282X cystic fibrosis mouse allows the study of pharmacological and gene-editing therapeutics to restore CFTR function.Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society · 2025Article
- Promoting readthrough of nonsense mutations in CF mouse model: Biodistribution and efficacy of NV848 in rescuing CFTR protein expression.Molecular therapy : the journal of the American Society of Gene Therapy · 2024Article
- Think Beyond the Room: Measuring Relative Humidity in the Home Cage and Its Impact on Reproduction in Laboratory Mice,Animals : an open access journal from MDPI · 2024Article
- Developing AAV-delivered nonsense suppressor tRNAs for neurological disorders.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2024Review
- Impaired intestinal free fatty acid transport followed by chylomicron malformation, not pancreatic insufficiency, cause metabolic defects in cystic fibrosis.Journal of lipid research · 2024Article
- In vivo editing of lung stem cells for durable gene correction in mice.Science (New York, N.Y.) · 2024Article
- Therapeutic Nonsense Suppression Modalities: From Small Molecules to Nucleic Acid-Based Approaches.Biomedicines · 2024Review
- Lung SORT LNPs enable precise homology-directed repair mediated CRISPR/Cas genome correction in cystic fibrosis models.Nature communications · 2023Article
- Genome Editing for Cystic Fibrosis.Cells · 2023Review
- Use of 2,6-diaminopurine as a potent suppressor of UGA premature stop codons in cystic fibrosis.Molecular therapy : the journal of the American Society of Gene Therapy · 2023Article
- One Size Does Not Fit All: The Past, Present and Future of Cystic Fibrosis Causal Therapies.Cells · 2022Review
- Animal models of cystic fibrosis in the era of highly effective modulator therapies.Current opinion in pharmacology · 2022Review
- CFTR and Gastrointestinal Cancers: An Update.Journal of personalized medicine · 2022Review
- CRISPR-SCReT (CRISPR-Stop Codon Read Through) method to control Cas9 expression for gene editing.Gene therapy · 2022Article
- Pharmacological Responses of the G542X-CFTR to CFTR Modulators.Frontiers in molecular biosciences · 2022Article
Corrections and comments
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Authors and funding
10 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Nonsense mutations are present in 10% of patients with CF, produce a premature termination codon in CFTR mRNA causing early termination of translation, and lead to lack of CFTR function. There are no currently available animal models which contain a nonsense mutation in the endogenous Cftr locus that can be utilized to test nonsense mutation therapies. In this study, we create a CF mouse model carrying the G542X nonsense mutation in Cftr using CRISPR/Cas9 gene editing. The G542X mouse model has reduced Cftr mRNA levels, demonstrates absence of CFTR function, and displays characteristic manifestations of CF mice such as reduced growth and intestinal obstruction. Importantly, CFTR restoration is observed in G542X intestinal organoids treated with G418, an aminoglycoside with translational readthrough capabilities. The G542X mouse model provides an invaluable resource for the identification of potential therapies of CF nonsense mutations as well as the assessment of in vivo effectiveness of these potential therapies targeting nonsense mutations.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.