Cited by 331Amyotrophic Lateral Sclerosis ResearchPluripotent Stem Cells ResearchAlzheimer's disease research and treatments

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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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Bilican, Bilada, Serio, Andrea, Barmada, Sami J., Nishimura, Agnes Lumi, Sullivan, Gareth J., Carrasco, Monica, Phatnani, Hemali P., Puddifoot, Clare A., Story, David, Fletcher, Judy, Park, In-Hyun, Friedman, Brad A., Daley, George Q., Wyllie, David J. A., Hardingham, Giles E., Wilmut, Ian, Finkbeiner, Steven, Maniatis, Tom, Shaw, Christopher E., Chandran, Siddharthan·2012·Proceedings of the National Academy of Sciences

DOI 10.1073/pnas.1202922109PMC PMC3326463

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Abstract

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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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: Serio, Andrea
Barmada, Sami J.
Nishimura, Agnes Lumi
Sullivan, Gareth J.
Phatnani, Hemali P.
Story, David
Park, In-Hyun
Friedman, Brad A.
Daley, George Q.
Wyllie, David J. A.
Hardingham, Giles E.
Finkbeiner, Steven
Maniatis, Tom
Shaw, Christopher E.
Chandran, Siddharthan
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
DOI: 10.1073/pnas.1202922109
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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Mutant induced pluripotent stem cell lines recapitulate aspects of TDP-43 proteinopathies and reveal cell-specific vulnerability

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