ArticleStem cells translational medicine2017
Metabolomic Profiling of Pompe Disease-Induced Pluripotent Stem Cell-Derived Cardiomyocytes Reveals That Oxidative Stress Is Associated with Cardiac and Skeletal Muscle Pathology.
Article in Stem cells translational medicine, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers.
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Who cites it
33 citing papers in PubMed, 41 citations in OpenAlex.
- Established and emerging roles of lysosomal dysfunction in cardiac aging.Nature cardiovascular research · 2026Review
- Cardiomyopathy in glycogen storage diseases: diagnosis, prognosis, and advanced management.Heart failure reviews · 2026Review
- Review
- Generation of Donor-Specific iPSC for Modelling Lysosomal Storage Disorders.Methods in molecular biology (Clifton, N.J.) · 2026Article
- Decoding the muscle transcriptome of patients with late-onset Pompe disease reveals markers of disease progression.Brain : a journal of neurology · 2024Article
- Mitochondrial dysfunction is associated with hypertrophic cardiomyopathy in Pompe disease-specific induced pluripotent stem cell-derived cardiomyocytes.Cell proliferation · 2024Article
- An evaluation of untargeted metabolomics methods to characterize inborn errors of metabolism.Molecular genetics and metabolism · 2024Review
- From Acid Alpha-Glucosidase Deficiency to Autophagy: Understanding the Bases of POMPE Disease.International journal of molecular sciences · 2023Review
- Polymer-based drug delivery systems under investigation for enzyme replacement and other therapies of lysosomal storage disorders.Advanced drug delivery reviews · 2023Review
- Induced pluripotent stem cell for modeling Pompe disease.Frontiers in cardiovascular medicine · 2022Review
- 3D in vitro Models of Pathological Skeletal Muscle: Which Cells and Scaffolds to Elect?Frontiers in bioengineering and biotechnology · 2022Review
- Modelling Metabolic Shifts during Cardiomyocyte Differentiation, Iron Deficiency and Transferrin Rescue Using Human Pluripotent Stem Cells.Metabolites · 2021Article
- Metabolomic Applications in Stem Cell Research: a Review.Stem cell reviews and reports · 2021Review
- Correction of oxidative stress enhances enzyme replacement therapy in Pompe disease.EMBO molecular medicine · 2021Article
- Three-dimensional tissue-engineered human skeletal muscle model of Pompe disease.Communications biology · 2021Article
- The rapidly evolving view of lysosomal storage diseases.EMBO molecular medicine · 2021Review
- Article
- hiPSC-Derived Cardiac Tissue for Disease Modeling and Drug Discovery.International journal of molecular sciences · 2020Review
- Enzyme Replacement Therapy Can Reverse Pathogenic Cascade in Pompe Disease.Molecular therapy. Methods & clinical development · 2020Article
- Mechanisms of Mitochondrial Dysfunction in Lysosomal Storage Disorders: A Review.Journal of clinical medicine · 2020Review
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Pompe disease (PD) is a lysosomal storage disease that is caused by a deficiency of the acid α-glucosidase, which results in glycogen accumulation in the lysosome. The major clinical symptoms of PD include skeletal muscle weakness, respiratory failure, and cardiac hypertrophy. Based on its severity and symptom onset, PD is classified into infantile and late-onset forms. Lysosomal accumulation of glycogen can promote many types of cellular dysfunction, such as autophagic dysfunction, endoplasmic reticulum stress, and abnormal calcium signaling within skeletal muscle. However, the disease mechanism underlying PD cardiomyopathy is not fully understood. Several researchers have shown that PD induced pluripotent stem cell (iPSC)-derived cardiomyocytes successfully replicate the disease phenotype and are useful disease models. We have analyzed the metabolomic profile of late-onset PD iPSC-derived cardiomyocytes and found that oxidative stress and mitochondrial dysfunction are likely associated with cardiac complications. Furthermore, we have validated that these disease-specific changes were also observed in the cardiomyocytes and skeletal muscle of a genetically engineered murine PD model. Oxidative stress may contribute to skeletal muscle and cardiomyocyte dysfunction in PD mice; however, NF-E2-related factor 2 was downregulated in cardiomyocytes and skeletal muscle, despite evidence of oxidative stress. We hypothesized that oxidative stress and an impaired antioxidative stress response mechanism may underlie the molecular pathology of late-onset PD. Stem Cells Translational Medicine 2017;6:31-39.
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