ArticleScientific reports2017
A Skeletal Muscle Model of Infantile-onset Pompe Disease with Patient-specific iPS Cells.
Article in Scientific reports, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 42 papers.
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Who cites it
42 citing papers in PubMed.
- Identifying regulatory muscle processes in infantile and adult Pompe patients using a multi-omic and morphological approach.Brain pathology (Zurich, Switzerland) · 2026Article
- Pompe Disease: Pathogenesis, Molecular Mechanisms, Neurological Aspects, Diagnostics and Modern Therapeutic Approaches.International journal of molecular sciences · 2026Review
- A genome-edited isogenic human embryonic stem cell model of pompe disease recapitulates cardiac and skeletal muscle pathology.Molecular biology reports · 2026Article
- Bulk Differentiation of Human Induced Pluripotent Stem Cells into Contractile Skeletal Muscles.Methods in molecular biology (Clifton, N.J.) · 2026Article
- MicroRNA-33 inhibition ameliorates muscular dystrophy by enhancing skeletal muscle regeneration.EMBO molecular medicine · 2025Article
- In Vitro Evaluation of Exon Skipping in Disease-Specific iPSC-Derived Myocytes.Methods in molecular biology (Clifton, N.J.) · 2025Article
- Aligning with the 3Rs: alternative models for research into muscle development and inherited myopathies.BMC veterinary research · 2024Review
- Possible involvement of zinc transporter ZIP13 in myogenic differentiation.Scientific reports · 2024Article
- Advanced Cellular Models for Rare Disease Study: Exploring Neural, Muscle and Skeletal Organoids.International journal of molecular sciences · 2024Review
- Article
- Polymer-based drug delivery systems under investigation for enzyme replacement and other therapies of lysosomal storage disorders.Advanced drug delivery reviews · 2023Review
- Simple and efficient differentiation of human iPSCs into contractible skeletal muscles for muscular disease modeling.Scientific reports · 2023Article
- Pathological modeling of glycogen storage disease type III with CRISPR/Cas9 edited human pluripotent stem cells.Frontiers in cell and developmental biology · 2023Article
- Induced Pluripotent Stem Cells for Modeling Physiological and Pathological Striated Muscle Complexity.Journal of neuromuscular diseases · 2023Review
- Review
- Isogenic GAA-KO Murine Muscle Cell Lines Mimicking Severe Pompe Mutations as Preclinical Models for the Screening of Potential Gene Therapy Strategies.International journal of molecular sciences · 2022Article
- Review
- 3D in vitro Models of Pathological Skeletal Muscle: Which Cells and Scaffolds to Elect?Frontiers in bioengineering and biotechnology · 2022Review
- To detect potential pathways and target genes in infantile Pompe patients using computational analysis.BioImpacts : BI · 2022Article
- Mature Myotubes Generated From Human-Induced Pluripotent Stem Cells Without Forced Gene Expression.Frontiers in cell and developmental biology · 2022Article
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Authors and funding
8 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Pompe disease is caused by an inborn defect of lysosomal acid α-glucosidase (GAA) and is characterized by lysosomal glycogen accumulation primarily in the skeletal muscle and heart. Patients with the severe type of the disease, infantile-onset Pompe disease (IOPD), show generalized muscle weakness and heart failure in early infancy. They cannot survive over two years. Enzyme replacement therapy with recombinant human GAA (rhGAA) improves the survival rate, but its effect on skeletal muscle is insufficient compared to other organs. Moreover, the patho-mechanism of skeletal muscle damage in IOPD is still unclear. Here we generated induced pluripotent stem cells (iPSCs) from patients with IOPD and differentiated them into myocytes. Differentiated myocytes showed lysosomal glycogen accumulation, which was dose-dependently rescued by rhGAA. We further demonstrated that mammalian/mechanistic target of rapamycin complex 1 (mTORC1) activity was impaired in IOPD iPSC-derived myocytes. Comprehensive metabolomic and transcriptomic analyses suggested the disturbance of mTORC1-related signaling, including deteriorated energy status and suppressed mitochondrial oxidative function. In summary, we successfully established an in vitro skeletal muscle model of IOPD using patient-specific iPSCs. Disturbed mTORC1 signaling may contribute to the pathogenesis of skeletal muscle damage in IOPD, and may be a potential therapeutic target for Pompe disease.
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