ArticleFrontiers in cell and developmental biology2021
Allele-Specific Gene Editing Rescues Pathology in a Human Model of Charcot-Marie-Tooth Disease Type 2E.
Article in Frontiers in cell and developmental biology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed, 26 citations in OpenAlex.
- Haplotype editing with CRISPR-Cas9 as a therapeutic approach for dominant-negative missense mutations in NEFL.Molecular therapy : the journal of the American Society of Gene Therapy · 2026Article
- Characterizing and controlling CRISPR repair outcomes in nondividing human cells.Nature communications · 2025Article
- Article
- Modeling of Charcot-Marie-Tooth disease in zebrafish.Frontiers in molecular neuroscience · 2025Review
- Haplotype editing with CRISPR/Cas9 as a therapeutic approach for dominant-negative missense mutations inbioRxiv : the preprint server for biology · 2024Article
- Customized antisense oligonucleotide-based therapy for neurofilament-associated Charcot-Marie-Tooth disease.Brain : a journal of neurology · 2024Article
- Allele-specific CRISPR-Cas9 editing inactivates a single nucleotide variant associated with collagen VI muscular dystrophy.Molecular therapy. Nucleic acids · 2024Article
- CRISPR Base Editing to Create Potential Charcot-Marie-Tooth Disease Models with High Editing Efficiency: Human Induced Pluripotent Stem Cell HarboringBiomedicines · 2024Article
- Advances and challenges in modeling inherited peripheral neuropathies using iPSCs.Experimental & molecular medicine · 2024Review
- Neurofilament Biophysics: From Structure to Biomechanics.Molecular biology of the cell · 2024Review
- Reversal ofProceedings of the National Academy of Sciences of the United States of America · 2024Article
- Allele-specific CRISPR/Cas9 editing inactivates a single nucleotide variant associated with collagen VI muscular dystrophy.bioRxiv : the preprint server for biology · 2024Article
- Validated assays for the quantification of C9orf72 human pathology.Scientific reports · 2024Article
- Trichostatin A for Efficient CRISPR-Cas9 Gene Editing of Human Pluripotent Stem Cells.The CRISPR journal · 2023Article
- Clinical trials in Charcot-Marie-Tooth disorders: a retrospective and preclinical assessment.Frontiers in neurology · 2023Article
- Neurofilaments in health and Charcot-Marie-Tooth disease.Frontiers in cell and developmental biology · 2023Review
- Diseased, differentiated and difficult: Strategies for improved engineering ofFrontiers in cellular neuroscience · 2022Review
- Neurofilament Light Regulates Axon Caliber, Synaptic Activity, and Organelle Trafficking in Cultured Human Motor Neurons.Frontiers in cell and developmental biology · 2021Article
- From in vivo models to in vitro bioengineered neuromuscular junctions for the study of Charcot-Marie-Tooth disease.Journal of tissue engineeringReview
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Authors and funding
12 authors at 3 institutions in 1 country.
Funding
Abstract
Many neuromuscular disorders are caused by dominant missense mutations that lead to dominant-negative or gain-of-function pathology. This category of disease is challenging to address via drug treatment or gene augmentation therapy because these strategies may not eliminate the effects of the mutant protein or RNA. Thus, effective treatments are severely lacking for these dominant diseases, which often cause severe disability or death. The targeted inactivation of dominant disease alleles by gene editing is a promising approach with the potential to completely remove the cause of pathology with a single treatment. Here, we demonstrate that allele-specific CRISPR gene editing in a human model of axonal Charcot-Marie-Tooth (CMT) disease rescues pathology caused by a dominant missense mutation in the neurofilament light chain gene (
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