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#gene editing

Promoter-Targeted CRISPR Correction of PMP22 Gene Dosage Restores Schwann Cell Homeostasis in Charcot-Marie-Tooth Disease Type 1A.

H. Doo S. H. Nam Haeun Kim Kang-In Lee J. Y. Lee So Hyang Park Yang Ji Kim Byung-Ok Choi Jong Hyun Kim
Sep 2026 · Tissue Engineering and Regenerative Medicine · 0 citations · 34 references
Medicine

TL;DR

Collectively, patient-anchored, promoter-targeted genome editing can potentially correct pathogenic PMP22 dosage while preserving basal expression, establishing a translational iPSC-based framework for treating dosage-sensitive demyelinating neuropathies such as CMT1A.

DOI PubMed Semantic Scholar
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#gene editing Review Open access Oct 2026

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Current evidence on the genetic, molecular, and regulatory architecture of CMT1A is synthesized, with particular emphasis on distal regulatory elements controlling PMP22 expression, promoter-specific transcriptional regulation, and mechanisms contributing to phenotypic heterogeneity, support an increasingly individuali...

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Advanced iPSC-based modelling of LMNA-related congenital muscular dystrophy enables development of genetic therapies for muscle laminopathies.

The selection of L-CMD iPSCs is expanded, disease-associated readouts are validated using a transgene-free differentiation protocol and gene editing strategies are assessed using 2D and 3D cultures, providing an advanced, humanised platform for translational research and precision medicine in laminopathies.

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Evaluating the pathogenic significance of unique chromosomal variants in craniosynostosis using patient-derived induced pluripotent stem cells and mouse modelling.

Patient iPSC-differentiated NCC and OPC lines, combined with TAD-based modelling to generate testable functional hypotheses, provide valuable functional evidence when evaluating causation of unique SV/CNV in craniosynostosis.

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CRISPR/Cas9‐Mediated Correction of the SLC25A38 Mutation in a Patient With Sideroblastic Anemia

ABSTRACT Background The SLC25A38 is one of the genes of the heme biosynthesis pathway and disruptive alterations therein cause autosomal recessive congenital sideroblastic anemia (CSA). Primary patient‐derived fibroblasts can be used as a valuable source for disease modeling, cell therapy studies, and the generation of...

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#gene editing Open access Sep 2026

Mutation-specific correction of SOD1 in familial ALS using prime and base editing in human induced pluripotent stem cells

Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disorder characterized by progressive motor neuron degeneration and respiratory failure. Approximately 10% of ALS cases are familial, with mutations in SOD1 representing a major genetic cause. Preservation of physiological SOD1 function may be i...

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Gene-Corrected Human iPSC-Derived Cardiomyocytes and Skeletal Muscles Reveal Partial Dystrophin Dp427 Preservation and Cardiac Dp116 Expression in Duchenne Muscular Dystrophy Patient With a Splice-Site Mutation in Intron 68 (c.9975-1G>T).

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M. Białobrzeska, M. Przymuszała, Paweł E. Ferdek et al. · 0 citations

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