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Mutant induced pluripotent stem cell lines recapitulate aspects of TDP-43 proteinopathies and reveal cell-specific vulnerability
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Transactive response DNA-binding (TDP-43) protein is the dominant disease protein in amyotrophic lateral sclerosis (ALS) and a subgroup of frontotemporal lobar degeneration (FTLD-TDP). Identification of mutations in the gene encoding TDP-43 ( TARDBP ) in familial ALS confirms a mechanistic link between misaccumulation of TDP-43 and neurodegeneration and provides an opportunity to study TDP-43 proteinopathies in human neurons generated from patient fibroblasts by using induced pluripotent stem cells (iPSCs). Here, we report the generation of iPSCs that carry the TDP-43 M337V mutation and their differentiation into neurons and functional motor neurons. Mutant neurons had elevated levels of soluble and detergent-resistant TDP-43 protein, decreased survival in longitudinal studies, and increased vulnerability to antagonism of the PI3K pathway. We conclude that expression of physiological levels of TDP-43 in human neurons is sufficient to reveal a mutation-specific cell-autonomous phenotype and strongly supports this approach for the study of disease mechanisms and for drug screening.
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“Familial ALS patient iPSC-derived motor neurons with TDP-43 mutation showed decreased voltage-activated Na+ and K+ currents and increased vulnerability [39].”
From Utility of iPSC-Derived Cells for Disease Modeling, Drug Development, and Cell Therapy (2022) · cites this paper as [39]
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“iPSC-derived motor neurons harboring the ALS-associated TARDBPM337V mutation demonstrate an accumulation of insoluble mutant TARDBP at native expression levels [298]”
From Autophagy and ALS: mechanistic insights and therapeutic implications (2022) · cites this paper as [298]
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Modeling cell-autonomous motor neuron phenotypes in ALS using iPSCs
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iPSC technology to study human aging and aging-related disorders
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Connecting TDP-43 Pathology with Neuropathy
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Organs to Cells and Cells to Organoids: The Evolution of in vitro Central Nervous System Modelling
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TARDBP Mutation Analysis in TDP-43 Proteinopathies and Deciphering the Toxicity of Mutant TDP-43
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TDP-43 enhances translation of specific mRNAs linked to neurodegenerative disease
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Utility of iPSC-Derived Cells for Disease Modeling, Drug Development, and Cell Therapy
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Congenital amegakaryocytic thrombocytopenia iPS cells exhibit defective MPL-mediated signaling
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Generating Human Neurons In Vitro and Using Them to Understand Neuropsychiatric Disease
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Current Advances and Limitations in Modeling ALS/FTD in a Dish Using Induced Pluripotent Stem Cells
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Astrocytes as targets for drug discovery
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Metadata
- Authors
- Bilican, B., Serio, A., Barmada, S. J., Nishimura, A. L., Sullivan, G. J., Carrasco, M., Phatnani, H. P., Puddifoot, C. A., Story, D., Fletcher, J., Park, I.-H., Friedman, B. A., Daley, G. Q., Wyllie, D. J. A., Hardingham, G. E., Wilmut, I., Finkbeiner, S., Maniatis, T., Shaw, C. E., & Chandran, S.
- Affiliations
- MRC Centre for Regenerative Medicine (GB)
- Gladstone Institutes (US)
- King's College London (GB)
- Department of Biochemistry and Molecular Biophysics,Columbia University, New York, NY 10032;
- Columbia University (US)
- University of Edinburgh (GB)
- Yale University (US)
- Harvard University (US)
- ORCID
- Venue
- Proceedings of the National Academy of Sciences
- Publisher
- National Academy of Sciences
- Published
- 2012-03-26
- Volume
- 109
- Issue
- 15
- Pages
- 5803-5808
- ISSN
- 0027-8424 (ISSN-L)
- 1091-6490
- PMC
- PMC3326463
- OpenAlex
- W2131321387
- Cited by
- 328
- References
- 51
- Citations by year
- 2026: 7 · 2025: 9 · 2024: 9 · 2023: 13 · 2022: 15 · 2021: 15 · 2020: 15 · 2019: 22 · 2018: 20 · 2017: 21 · 2016: 43 · 2015: 38 · 2014: 37 · 2013: 45 · 2012: 18
- FWCI
- 28.99
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Proceedings of the National Academy of Sciences (publishedVersion)
- Europe PMC (PubMed Central) (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Research Portal (King's College London) (submittedVersion)
- Edinburgh Research Explorer (University of Edinburgh) (submittedVersion, other-oa)
- Queen Mary Research Online (Queen Mary University of London) (submittedVersion)
- Funders
- Wellcome Trust (089701)
- Motor Neurone Disease Association (CHANDRAN/MAR10/982-797, Chandran/Mar10/6751)
- Medical Research Council (MC_G1000733)
- Biotechnology and Biological Sciences Research Council
- National Institute of Neurological Disorders and Stroke (K08NS072233, R01NS039074)
- Topics
- Health Sciences › Medicine › Clinical Neurology › Amyotrophic Lateral Sclerosis Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Pluripotent Stem Cells Research
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Alzheimer's disease research and treatments
- Keywords
- TDP-43, amyotrophic lateral sclerosis, frontotemporal lobar degeneration, TARDBP, induced pluripotent stem cells, iPSC-derived neurons, motor neurons, PI3K signaling, neurodegeneration, drug screening
- MeSH terms
- Adult, Cell Differentiation, Detergents, DNA-Binding Proteins, Female, Fibroblasts, Humans, Male, Middle Aged, Motor Neurons, Mutation, Organ Specificity, Solubility, Induced Pluripotent Stem Cells, TDP-43 Proteinopathies
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