Mutant induced pluripotent stem cell lines recapitulate aspects of TDP-43 proteinopathies and reveal cell-specific vulnerability
Open accessAbstract
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.
“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]
The Results (p. 3) report greater vulnerability of TDP-43 M337V motor-neuron cultures to PI3K inhibition, and the Discussion (p. 3) reports reduced neuronal survival under basal conditions. But the paper does not report decreased voltage-activated Na+ or K+ currents; its Results (p. 2) instead describe mutant and control motor neurons as functionally comparable. (LLM, conf=0.88)
Experimental — accuracy not yet measurediPSC-derived motor neurons harboring the ALS-associated TARDBPM337V mutation demonstrate an accumulation of insoluble mutant TARDBP at native expression levels.
“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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Induction of Pluripotent Stem Cells from Adult Human Fibroblasts by Defined Factors
Takahashi, K., Tanabe, K., Ohnuki, M., Narita, M., Ichisaka, T., Tomoda, K., & Yamanaka, S. (2007) · Cell · doi:10.1016/j.cell.2007.11.019 · Cited by 20,221 · see citing works
Induced Pluripotent Stem Cell Lines Derived from Human Somatic Cells
Yu, J., Vodyanik, M. A., Smuga-Otto, K., Antosiewicz-Bourget, J., Frane, J. L., Tian, S., Nie, J., Jonsdottir, G. A., Ruotti, V., Stewart, R., et al. (2007) · Science · doi:10.1126/science.1151526 · Cited by 10,310 · see citing works
Ubiquitinated TDP-43 in Frontotemporal Lobar Degeneration and Amyotrophic Lateral Sclerosis
Neumann, M., Sampathu, D. M., Kwong, L. K., Truax, A. C., Micsenyi, M. C., Chou, T. T., Bruce, J., Schuck, T., Grossman, M., Clark, C. M., et al. (2006) · Science · doi:10.1126/science.1134108 · Cited by 6,576 · see citing works
Highly efficient neural conversion of human ES and iPS cells by dual inhibition of SMAD signaling
Chambers, S. M., Fasano, C. A., Papapetrou, E. P., Tomishima, M., Sadelain, M., & Studer, L. (2009) · Nature Biotechnology · doi:10.1038/nbt.1529 · Cited by 3,620 · see citing works
Reprogramming of human somatic cells to pluripotency with defined factors
Park, I.-H., Zhao, R., West, J. A., Yabuuchi, A., Huo, H.-G., Ince, T., Lerou, P., Lensch, M., & Daley, G. Q. (2008) · Nature · doi:10.1038/nature06534 · Cited by 3,028 · see citing works
Self-citationArai, T., Hasegawa, M., Akiyama, H., Ikeda, K., Nonaka, T., Mori, H., Mann, D., Tsuchiya, K., Yoshida, M., Hashizume, Y., et al. (2006) · Biochemical and Biophysical Research Communications · doi:10.1016/j.bbrc.2006.10.093 · Cited by 2,732 · see citing works
TDP-43 Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis
Sreedharan, J., Blair, I. P., Tripathi, V. B., Hu, X., Vance, C., Rogelj, B., Ackerley, S., Durnall, J. C., Williams, K. L., Buratti, E., et al. (2008) · Science · doi:10.1126/science.1154584 · Cited by 2,630 · see citing works
Self-citationInclusion body formation reduces levels of mutant huntingtin and the risk of neuronal death
Arrasate, M., Mitra, S., Schweitzer, E. S., Segal, M. R., & Finkbeiner, S. (2004) · Nature · doi:10.1038/nature02998 · Cited by 1,979 · see citing works
Self-citationDimos, J. T., Rodolfa, K. T., Niakan, K. K., Weisenthal, L. M., Mitsumoto, H., Chung, W. K., Croft, G. F., Saphier, G., Leibel, R. L., Goland, R., et al. (2008) · Science · doi:10.1126/science.1158799 · Cited by 1,959 · see citing works
Directed differentiation of embryonic stem cells into motor neurons.
Wichterle, H., Lieberam, I., Porter, J. A., & Jessell, T. (2002) · Cell · doi:10.1016/s0092-8674(02)00835-8 · Cited by 1,792 · see citing works
Induced pluripotent stem cells from a spinal muscular atrophy patient
Ebert, A. D., Yu, J., Rose, F. F., Mattis, V. B., Lorson, C. L., Thomson, J. A., & Svendsen, C. N. (2009) · Nature · doi:10.1038/nature07677 · Cited by 1,441 · see citing works
Long pre-mRNA depletion and RNA missplicing contribute to neuronal vulnerability from loss of TDP-43
Polymenidou, M., Lagier-Tourenne, C., Hutt, K. R., Huelga, S. C., Moran, J., Liang, T. Y., Ling, S.-C., Sun, E., Wancewicz, E., Mazur, C., et al. (2011) · Nature Neuroscience · doi:10.1038/nn.2779 · Cited by 1,335 · see citing works
Brunet, A., Datta, S. R., & Greenberg, M. E. (2001) · Current Opinion in Neurobiology · doi:10.1016/s0959-4388(00)00211-7 · Cited by 1,193 · see citing works
Generation of human induced pluripotent stem cells from dermal fibroblasts
Lowry, W. E., Richter, L., Yachechko, R., Pyle, A. D., Tchieu, J., Sridharan, R., Clark, A. T., & Plath, K. (2008) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0711983105 · Cited by 1,041 · see citing works
TDP-43 and FUS/TLS: emerging roles in RNA processing and neurodegeneration
Lagier-Tourenne, C., Polymenidou, M., & Cleveland, D. W. (2010) · Human Molecular Genetics · doi:10.1093/hmg/ddq137 · Cited by 1,021 · see citing works
Hu, B., Weick, J. P., Yu, J., Ma, L., Zhang, X., Thomson, J. A., & Zhang, S. (2010) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0910012107 · Cited by 1,007 · see citing works
Modelling pathogenesis and treatment of familial dysautonomia using patient-specific iPSCs
Lee, G., Papapetrou, E. P., Kim, H., Chambers, S. M., Tomishima, M. J., Fasano, C. A., Ganat, Y. M., Menon, J., Shimizu, F., Viale, A. J., et al. (2009) · Nature · doi:10.1038/nature08320 · Cited by 867 · see citing works
LRRK2 Mutant iPSC-Derived DA Neurons Demonstrate Increased Susceptibility to Oxidative Stress
Nguyen, H. N., Byers, B., Cord, B. J., Shcheglovitov, A., Byrne, J., Gujar, P., Kee, K., Schüle, B., Dolmetsch, R. E., Langston, J. W., et al. (2011) · Cell stem cell · doi:10.1016/j.stem.2011.01.013 · Cited by 748 · see citing works
Van Deerlin, V. M., Leverenz, J. B., Bekris, L. M., Bird, T. D., Yuan, W., Elman, L. B., Clay, D., Wood, E. M., Chen-Plotkin, A. S., Martinez-Lage, M., et al. (2008) · The Lancet Neurology · doi:10.1016/s1474-4422(08)70071-1 · Cited by 723 · see citing works
Patient-specific induced pluripotent stem-cell-derived models of LEOPARD syndrome
Carvajal-Vergara, X., Sevilla, A., D’Souza, S. L., Ang, Y.-S., Schaniel, C., Lee, D.-F., Yang, L., Kaplan, A. D., Adler, E. D., Rozov, R., et al. (2010) · Nature · doi:10.1038/nature09005 · Cited by 690 · see citing works
TDP‐43 A315T mutation in familial motor neuron disease
Gitcho, M. A., Baloh, R. H., Chakraverty, S., Mayo, K., Norton, J. B., Levitch, D., Hatanpaa, K. J., White, C. L., Bigio, E. H., Caselli, R. J., et al. (2008) · Annals of Neurology · doi:10.1002/ana.21344 · Cited by 619 · see citing works
TDP‐43 regulates its mRNA levels through a negative feedback loop
Ayala, Y. M., Conti, L. D., Avendaño-Vázquez, S. E., Dhir, A., Romano, M., D’Ambrogio, A., Tollervey, J. R., Ule, J., Baralle, M., Buratti, E., et al. (2010) · The EMBO Journal · doi:10.1038/emboj.2010.310 · Cited by 618 · see citing works
Barmada, S. J., Skibinski, G., Korb, E., Rao, E. J., Wu, J. Y., & Finkbeiner, S. (2010) · The Journal of Neuroscience · doi:10.1523/jneurosci.4988-09.2010 · Cited by 554 · see citing works
Self-citationBush, K. T., Goldberg, A. L., & Nigám, S. K. (1997) · Journal of Biological Chemistry · doi:10.1074/jbc.272.14.9086 · Cited by 469 · see citing works
Novel Mutations in TARDBP (TDP-43) in Patients with Familial Amyotrophic Lateral Sclerosis
Rutherford, N. J., Zhang, Y., Baker, M. C., Gass, J. M., Finch, N. A., Xu, Y., Stewart, H. G., Kelley, B. J., Kuntz, K., Crook, R., et al. (2008) · PLoS Genetics · doi:10.1371/journal.pgen.1000193 · Cited by 450 · see citing works
Self-citationALS-associated mutations in TDP-43 increase its stability and promote TDP-43 complexes with FUS/TLS
Ling, S., de Albuquerque, C. P., Han, J. S., Lagier‐Tourenne, C., Tokunaga, S., Zhou, H., & Cleveland, D. W. (2010) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1008227107 · Cited by 450 · see citing works
Motor Neurons Are Selectively Vulnerable to AMPA/Kainate Receptor-Mediated InjuryIn Vitro
Carriedo, S. G., Yin, H. Z., & Weiss, J. H. (1996) · Journal of Neuroscience · doi:10.1523/jneurosci.16-13-04069.1996 · Cited by 440 · see citing works
Mackenzie, I. R., Neumann, M., Bigio, E. H., Cairns, N. J., Alafuzoff, I. I., Kril, J. J., Kovács, G. G., Ghetti, B. F., Halliday, G. M., Holm, I. E., et al. (2008) · Acta Neuropathologica · doi:10.1007/s00401-008-0460-5 · Cited by 418 · see citing works
Higashi, S., Iseki, E., Yamamoto, R., Minegishi, M., Hino, H., Fujisawa, K., Togo, T., Katsuse, O., Uchikado, H., Furukawa, Y., et al. (2007) · Brain Research · doi:10.1016/j.brainres.2007.09.048 · Cited by 414 · see citing works
Uryu, K., Nakashima-Yasuda, H., Forman, M. S., Kwong, L. K., Clark, C. M., Grossman, M., Miller, B. L., Kretzschmar, H. A., Lee, V. M.-Y., Trojanowski, J. Q., et al. (2008) · Journal of Neuropathology & Experimental Neurology · doi:10.1097/nen.0b013e31817713b5 · Cited by 382 · see citing works
<i>TDP</i> ‐ <i>43</i> mutation in familial amyotrophic lateral sclerosis
Yokoseki, A., Shiga, A., Tan, C., Tagawa, A., Kaneko, H., Koyama, A., Eguchi, H., Tsujino, A., Ikeuchi, T., Kakita, A., et al. (2008) · Annals of Neurology · doi:10.1002/ana.21392 · Cited by 373 · see citing works
TDP‐43, the signature protein of FTLD‐U, is a neuronal activity‐responsive factor
Wang, I., Wu, L., Chang, H., & Shen, C. ‐. J. (2007) · Journal of Neurochemistry · doi:10.1111/j.1471-4159.2007.05190.x · Cited by 334 · see citing works
Johnson, M. A., Weick, J. P., Pearce, R. A., & Zhang, S.-C. (2007) · The Journal of Neuroscience · doi:10.1523/jneurosci.4562-06.2007 · Cited by 318 · see citing works
Characterization of an RNA Granule from Developing Brain
Elvira, G., Wasiak, S., Blandford, V., Tong, X.-K., Serrano, A., Fan, X., del Rayo Sánchez-Carbente, M., Servant, F., Bell, A. W., Boismenu, D., et al. (2006) · Molecular & Cellular Proteomics · doi:10.1074/mcp.m500255-mcp200 · Cited by 287 · see citing works
Li, X.-J., Hu, B., Jones, S. A., Zhang, Y., LaVaute, T. M., Du, Z., & Zhang, S. (2008) · Stem Cells · doi:10.1634/stemcells.2007-0620 · Cited by 278 · see citing works
Knockdown of transactive response DNA‐binding protein (TDP‐43) downregulates histone deacetylase 6
Fiesel, F. C., Voigt, A., Weber, S. S., den Haute, C. V., Waldenmaier, A., Görner, K., Walter, M. J., Anderson, M. L., Kern, J. V., Rasse, T. M., et al. (2009) · The EMBO Journal · doi:10.1038/emboj.2009.324 · Cited by 226 · see citing works
(2002) · PubMed · Cited by 192 · see citing works
Roy, N. S., Nakano, T., Xuing, L., Kang, J., Nedergaard, M., & Goldman, S. A. (2005) · Experimental Neurology · doi:10.1016/j.expneurol.2005.06.021 · Cited by 148 · see citing works
Proteasome inhibition leads to the activation of all members of the heat‐shock‐factor family
Kawazoe, Y., Nakai, A., Tanabe, M., & Nagata, K. (1998) · European Journal of Biochemistry · doi:10.1046/j.1432-1327.1998.2550356.x · Cited by 132 · see citing works
Cui, Q. (2006) · Molecular Neurobiology · doi:10.1385/mn:33:2:155 · Cited by 130 · see citing works
Automated microscope system for determining factors that predict neuronal fate
Arrasate, M., & Finkbeiner, S. M. (2005) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0409777102 · Cited by 130 · see citing works
Self-citationDolcet, X., Egea, J., Soler, R. M., Martı́n-Zanca, D., & Comella, J. X. (1999) · Journal of Neurochemistry · doi:10.1046/j.1471-4159.1999.0730521.x · Cited by 127 · see citing works
TDP-43 Proteinopathies: Neurodegenerative Protein Misfolding Diseases without Amyloidosis
Kwong, L. K., Uryu, K., Trojanowski, J. Q., & Lee, V. M. ‐. (2007) · Neurosignals · doi:10.1159/000109758 · Cited by 127 · see citing works
Tsang, Y. M., Chiong, F., Kuznetsov, D., Kasarskis, E. J., & Geula, C. (2000) · Brain Research · doi:10.1016/s0006-8993(00)01954-5 · Cited by 125 · see citing works
Wada, T., Honda, M., Minami, I., Tooi, N., Amagai, Y., Nakatsuji, N., & Aiba, K. (2009) · PLoS ONE · doi:10.1371/journal.pone.0006722 · Cited by 107 · see citing works
TDP-43-Based Animal Models of Neurodegeneration: New Insights into ALS Pathology and Pathophysiology
Wegorzewska, I., & Baloh, R. H. (2010) · Neurodegenerative Diseases · doi:10.1159/000321547 · Cited by 93 · see citing works
Gozal, Y. M., Duong, D. M., Gearing, M., Cheng, D., Hanfelt, J., Funderburk, C. D., Peng, J., Lah, J. J., & Levey, A. I. (2009) · Journal of Proteome Research · doi:10.1021/pr900474t · Cited by 92 · see citing works
Stangl, K., Günther, C., Frank, T. M., Lorenz, M., Meiners, S., Röpke, T., Stelter, L., Moobed, M., Baumann, G., Kloetzel, P., et al. (2002) · Biochemical and Biophysical Research Communications · doi:10.1006/bbrc.2002.6476 · Cited by 87 · see citing works
Braak, H., Ludolph, A. C., Thal, D. R., & Tredici, K. D. (2010) · Acta Neuropathologica · doi:10.1007/s00401-010-0683-0 · Cited by 67 · see citing works
Axonal ligation induces transient redistribution of TDP-43 in brainstem motor neurons
Sato, T., Takeuchi, S., Saito, A., Ding, W., Bamba, H., Matsuura, H., Hisa, Y., Tooyama, I., & Urushitani, M. (2009) · Neuroscience · doi:10.1016/j.neuroscience.2009.09.050 · Cited by 63 · see citing works
Human stem cells as a model of motoneuron development and diseases
Liu, Y., & Zhang, S. (2010) · Annals of the New York Academy of Sciences · doi:10.1111/j.1749-6632.2010.05537.x · Cited by 14 · see citing works
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Human iPSC-based modeling of late-onset disease via progerin-induced aging
Miller, J. D., Ganat, Y. M., Kishinevsky, S., Bowman, R. L., Liu, B., Tu, E. Y., Mandal, P. K., Vera, E., Shim, J.-W., Kriks, S., et al. (2013) · Cell stem cell · doi:10.1016/j.stem.2013.11.006 · Cited by 777 · see citing works
ALS Genetics, Mechanisms, and Therapeutics: Where Are We Now?
Mejzini, R., Flynn, L. L., Pitout, I. L., Fletcher, S., Wilton, S. D., & Akkari, P. A. (2019) · Frontiers in Neuroscience · doi:10.3389/fnins.2019.01310 · Cited by 755 · see citing works
Axonal Transport of TDP-43 mRNA Granules Is Impaired by ALS-Causing Mutations
Alami, N. H., Smith, R. B., Carrasco, M. A., Williams, L. A., Winborn, C. S., Han, S. S. W., Kiskinis, E., Winborn, B., Freibaum, B. D., Kanagaraj, A., et al. (2014) · Neuron · doi:10.1016/j.neuron.2013.12.018 · Cited by 660 · see citing works
Self-citationALS-implicated protein TDP-43 sustains levels of STMN2, a mediator of motor neuron growth and repair
Klim, J. R., Williams, L. A., Limone, F., Guerra San Juan, I., Davis-Dusenbery, B. N., Mordes, D. A., Burberry, A., Steinbaugh, M. J., Gamage, K. K., Kirchner, R., et al. (2019) · Nature Neuroscience · doi:10.1038/s41593-018-0300-4 · Cited by 653 · see citing works
Protein aggregation in amyotrophic lateral sclerosis
Blokhuis, A. M., Groen, E. J. N., Koppers, M., van den Berg, L. H., & Pasterkamp, R. J. (2013) · Acta Neuropathologica · doi:10.1007/s00401-013-1125-6 · Cited by 573 · see citing works
Drug Screening for ALS Using Patient-Specific Induced Pluripotent Stem Cells
Egawa, N., Kitaoka, S., Tsukita, K., Naitoh, M., Takahashi, K., Yamamoto, T., Adachi, F., Kondo, T., Okita, K., Asaka, I., et al. (2012) · Science Translational Medicine · doi:10.1126/scitranslmed.3004052 · Cited by 552 · see citing works
Controversies and priorities in amyotrophic lateral sclerosis
Turner, M. R., Hardiman, O. M., Benatar, M. G., Brooks, B. R., Chiò, A., de Carvalho, M. A., Ince, P. G., Lin, C. S.-Y., Miller, R. G., Mitsumoto, H., et al. (2013) · The Lancet Neurology · doi:10.1016/s1474-4422(13)70036-x · Cited by 540 · see citing works
The role of TDP-43 mislocalization in amyotrophic lateral sclerosis
Suk, T. R., & Rousseaux, M. W. C. (2020) · Molecular Neurodegeneration · doi:10.1186/s13024-020-00397-1 · Cited by 456 · see citing works
Pathways Disrupted in Human ALS Motor Neurons Identified through Genetic Correction of Mutant SOD1
Kiskinis, E., Sandoe, J., Williams, L. A., Boulting, G. L., Moccia, R., Wainger, B. J., Han, S., Peng, T., Thams, S., Mikkilineni, S., et al. (2014) · Cell stem cell · doi:10.1016/j.stem.2014.03.004 · Cited by 441 · see citing works
Induced pluripotent stem cells: the new patient?
Bellin, M., Marchetto, M. C., Gage, F. H., & Mummery, C. L. (2012) · Nature Reviews Molecular Cell Biology · doi:10.1038/nrm3448 · Cited by 432 · see citing works
Autophagy induction enhances TDP43 turnover and survival in neuronal ALS models
Barmada, S. J., Serio, A., Arjun, A., Bilican, B., Daub, A., Ando, D. M., Tsvetkov, A., Pleiss, M., Li, X., Peisach, D., et al. (2014) · Nature Chemical Biology · doi:10.1038/nchembio.1563 · Cited by 431 · see citing works
Self-citationiPS cells: a game changer for future medicine
Inoue, H., Nagata, N., Kurokawa, H., & Yamanaka, S. (2014) · The EMBO Journal · doi:10.1002/embj.201387098 · Cited by 403 · see citing works
TDP-43 Proteinopathy and ALS: Insights into Disease Mechanisms and Therapeutic Targets
Scotter, E. L., Chen, H.-J., & Shaw, C. E. (2015) · Neurotherapeutics · doi:10.1007/s13311-015-0338-x · Cited by 356 · see citing works
Self-citationSerio, A., Bilican, B., Barmada, S. J., Ando, D. M., Zhao, C., Siller, R., Burr, K., Haghi, G., Story, D., Nishimura, A. L., et al. (2013) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1300398110 · Cited by 345 · see citing works
Self-citationA cellular model for sporadic ALS using patient-derived induced pluripotent stem cells
Burkhardt, M. F., Martinez, F. J., Wright, S., Ramos, C., Volfson, D., Mason, M. J., Garnes, J., Dang, V., Lievers, J., Shoukat-Mumtaz, U., et al. (2013) · Molecular and Cellular Neuroscience · doi:10.1016/j.mcn.2013.07.007 · Cited by 300 · see citing works
Devlin, A., Burr, K., Borooah, S., Foster, J. D., Cleary, E. M., Geti, I., Vallier, L., Shaw, C. E., Chandran, S., & Miles, G. B. (2015) · Nature Communications · doi:10.1038/ncomms6999 · Cited by 295 · see citing works
Self-citationCenteno, E. G. Z., Cimarosti, H., & Bithell, A. (2018) · Molecular Neurodegeneration · doi:10.1186/s13024-018-0258-4 · Cited by 268 · see citing works
The Src/c-Abl pathway is a potential therapeutic target in amyotrophic lateral sclerosis
Imamura, K., Izumi, Y., Watanabe, A., Tsukita, K., Woltjen, K., Yamamoto, T., Hotta, A., Kondo, T., Kitaoka, S., Ohta, A., et al. (2017) · Science Translational Medicine · doi:10.1126/scitranslmed.aaf3962 · Cited by 260 · see citing works
Raman, R., Allen, S. P., Goodall, G., Kramer, S., Ponger, L., Heath, P. R., Milo, M., Hollinger, H. C., Walsh, T., Highley, J. R., et al. (2014) · Neuropathology and Applied Neurobiology · doi:10.1111/nan.12147 · Cited by 254 · see citing works
Investigating human disease using stem cell models
Sterneckert, J. L., Reinhardt, P., & Schöler, H. R. (2014) · Nature Reviews Genetics · doi:10.1038/nrg3764 · Cited by 249 · see citing works
Functional Significance of TDP-43 Mutations in Disease
Buratti, E. (2015) · Advances in genetics · doi:10.1016/bs.adgen.2015.07.001 · Cited by 225 · see citing works
Modelling amyotrophic lateral sclerosis: progress and possibilities
Damme, P. V., Robberecht, W., & Bosch, L. V. D. (2017) · Disease Models & Mechanisms · doi:10.1242/dmm.029058 · Cited by 203 · see citing works
Tong, J., Huang, C., Bi, F., Wu, Q., Huang, B., Liu, X., Li, F., Zhou, H., & Xia, X. (2013) · The EMBO Journal · doi:10.1038/emboj.2013.122 · Cited by 196 · see citing works
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Berning, B. A., & Walker, A. K. (2019) · Frontiers in Neuroscience · doi:10.3389/fnins.2019.00335 · Cited by 183 · see citing works
Opportunities and challenges of pluripotent stem cell neurodegenerative disease models
Sandoe, J., & Eggan, K. C. (2013) · Nature Neuroscience · doi:10.1038/nn.3425 · Cited by 192 · see citing works
Autophagy and ALS: mechanistic insights and therapeutic implications
Chua, J. P., De Calbiac, H., Kabashi, E., & Barmada, S. J. (2022) · Autophagy · doi:10.1080/15548627.2021.1926656 · Cited by 189 · see citing works
“iPSC-derived motor neurons harboring the ALS-associated TARDBP mutation demonstrate an accumulation of insoluble mutant TARDBP at native expression levels [298], which in previous models has not only been closely linked to neurodegeneration”
BackgroundSelf-citationChen, H.-J., Mitchell, J. C., Novoselov, S. S., Miller, J. W., Nishimura, A. L., Scotter, E. L., Vance, C. A., Cheetham, M. E., & Shaw, C. E. (2016) · Brain · doi:10.1093/brain/aww028 · Cited by 181 · see citing works
Self-citationMechanisms, models and biomarkers in amyotrophic lateral sclerosis
Turner, M. R., Bowser, R. P., Bruijn, L. I., Dupuis, L., Ludolph, A. C., McGrath, M. S., Manfredi, G., Maragakis, N. J., Miller, R. G., Pullman, S. L., et al. (2013) · Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration · doi:10.3109/21678421.2013.778554 · Cited by 168 · see citing works
Birger, A., Ben‐Dor, I., Ottolenghi, M., Turetsky, T. T., Gil, Y., Sweetat, S., Perez, L., Belzer, V., Casden, N., Steiner, D., et al. (2019) · EBioMedicine · doi:10.1016/j.ebiom.2019.11.026 · Cited by 164 · see citing works
Baxi, E. G., Thompson, T. G., Li, J., Kaye, J., Lim, R. G., Wu, J., Ramamoorthy, D., Lima, L. D. A., Vaibhav, V., Matlock, A. D., et al. (2022) · Nature Neuroscience · doi:10.1038/s41593-021-01006-0 · Cited by 159 · see citing works
Self-citationDownregulation of MicroRNA-9 in iPSC-Derived Neurons of FTD/ALS Patients with TDP-43 Mutations
Zhang, Z., Almeida, S., Lu, Y., Nishimura, A. L., Peng, L., Sun, D., Wu, B., Karydas, A. M., Tartaglia, M. C., Fong, J. C., et al. (2013) · PLoS ONE · doi:10.1371/journal.pone.0076055 · Cited by 142 · see citing works
Self-citationSkibinski, G., Nakamura, K., Cookson, M., & Finkbeiner, S. M. (2014) · Journal of Neuroscience · doi:10.1523/jneurosci.2712-13.2014 · Cited by 138 · see citing works
Self-citationHow to make spinal motor neurons
Davis‐Dusenbery, B. N., Williams, L. A., Klim, J. R., & Eggan, K. C. (2014) · Development · doi:10.1242/dev.097410 · Cited by 137 · see citing works
Lenzi, J., Santis, R. D., de Turris, V., Morlando, M., Laneve, P., Calvo, A., Caliendo, V., Chiò, A., Rosa, A., & Bozzoni, I. (2015) · Disease Models & Mechanisms · doi:10.1242/dmm.020099 · Cited by 140 · see citing works
Pathological mechanisms underlying TDP-43 driven neurodegeneration in FTLD-ALS spectrum disorders
Janssens, J., & Broeckhoven, C. V. (2013) · Human Molecular Genetics · doi:10.1093/hmg/ddt349 · Cited by 140 · see citing works
Tang, X., Zhou, L., Biel, A., Marchetto, M. C., Muotri, A. R., Gage, F. H., & Chen, G. (2013) · Stem Cell Research · doi:10.1016/j.scr.2013.05.002 · Cited by 136 · see citing works
Advances in motor neurone disease
Bäumer, D., Talbot, K., & Turner, M. R. (2014) · Journal of the Royal Society of Medicine · doi:10.1177/0141076813511451 · Cited by 134 · see citing works
RRM adjacent TARDBP mutations disrupt RNA binding and enhance TDP-43 proteinopathy
Chen, H.-J., Topp, S. D., Hui, H. S., Zacco, E., Katarya, M., McLoughlin, C., King, A., Smith, B. N., Troakes, C., Pastore, A., et al. (2019) · Brain · doi:10.1093/brain/awz313 · Cited by 133 · see citing works
Self-citationNaujock, M., Stanslowsky, N., Bufler, S., Naumann, M., Reinhardt, P., Sterneckert, J. L., Kefalakes, E., Kassebaum, C., Bursch, F., Lojewski, X., et al. (2016) · Stem Cells · doi:10.1002/stem.2354 · Cited by 125 · see citing works
Bhinge, A., Namboori, S. C., Zhang, X., VanDongen, A. M. J., & Stanton, L. W. (2017) · Stem Cell Reports · doi:10.1016/j.stemcr.2017.02.019 · Cited by 126 · see citing works
Béland, L.-C., Markovinovic, A., Jakovac, H., De Marchi, F., Bilic, E., Mazzini, L., Kriz, J., & Munitic, I. (2020) · Brain Communications · doi:10.1093/braincomms/fcaa124 · Cited by 125 · see citing works
Amelioration of toxicity in neuronal models of amyotrophic lateral sclerosis by hUPF1
Barmada, S. J., Ju, S., Arjun, A., Batarse, A., Archbold, H. C., Peisach, D., Li, X., Zhang, Y., Tank, E. M. H., Qiu, H., et al. (2015) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1509744112 · Cited by 125 · see citing works
Self-citationWatanabe, S., Kaneko, K., & Yamanaka, K. (2012) · Journal of Biological Chemistry · doi:10.1074/jbc.m112.433615 · Cited by 124 · see citing works
Mutant C9orf72 human iPSC‐derived astrocytes cause non‐cell autonomous motor neuron pathophysiology
Zhao, C. N., Devlin, A., Chouhan, A. K., Selvaraj, B. T., Stavrou, M., Burr, K., Brivio, V., He, X., Mehta, A. R., Story, D., et al. (2019) · Glia · doi:10.1002/glia.23761 · Cited by 123 · see citing works
Self-citationLogan, S., Arzua, T., Canfield, S. G., Seminary, E. R., Sison, S. L., Ebert, A. D., & Bai, X. (2019) · Comprehensive physiology · doi:10.1002/cphy.c180025 · Cited by 139 · see citing works
Protein Kinase CK-1 Inhibitors As New Potential Drugs for Amyotrophic Lateral Sclerosis
Salado, I. G., Redondo, M., Bello, M. L., Pérez, C., Liachko, N. F., Kraemer, B. C., Miguel, L., Lecourtois, M., Gil, C., Martı́nez, A., et al. (2014) · Journal of Medicinal Chemistry · doi:10.1021/jm500065f · Cited by 118 · see citing works
The cleavage pattern of TDP-43 determines its rate of clearance and cytotoxicity
Li, Q., Yokoshi, M., Okada, H., & Kawahara, Y. (2015) · Nature Communications · doi:10.1038/ncomms7183 · Cited by 116 · see citing works
ALS/FTLD: experimental models and reality
Tan, R. H., Ke, Y. D., Ittner, L. M., & Halliday, G. M. (2017) · Acta Neuropathologica · doi:10.1007/s00401-016-1666-6 · Cited by 113 · see citing works
Hsu, C., Xu, J., Brinkhof, B., Wang, H., Cui, Z., Huang, W. E., & Ye, H. (2020) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.2001906117 · Cited by 115 · see citing works
ALS-Linked Mutations Enlarge TDP-43-Enriched Neuronal RNA Granules in the Dendritic Arbor
Liu‐Yesucevitz, L., Lin, A. Y., Ebata, A., Boon, J. Y., Reid, W., Xu, Y.-F., Kobrin, K. L., Murphy, G. J., Petrucelli, L., & Wolozin, B. L. (2014) · Journal of Neuroscience · doi:10.1523/jneurosci.2350-13.2014 · Cited by 113 · see citing works
Human-induced pluripotent stem cells: potential for neurodegenerative diseases
Ross, C. A., & Akimov, S. (2014) · Human Molecular Genetics · doi:10.1093/hmg/ddu204 · Cited by 109 · see citing works
Modeling human neurological disorders with induced pluripotent stem cells
Imaizumi, Y., & Okano, H. (2013) · Journal of Neurochemistry · doi:10.1111/jnc.12625 · Cited by 108 · see citing works
Fazal, R., Boeynaems, S., Swijsen, A., De Decker, M., Fumagalli, L., Moisse, M., Vanneste, J., Guo, W., Boon, R., Vercruysse, T., et al. (2021) · The EMBO Journal · doi:10.15252/embj.2020106177 · Cited by 108 · see citing works
O’Brien, L. C., Keeney, P. M., & Bennett, J. P. (2015) · Stem Cells and Development · doi:10.1089/scd.2015.0076 · Cited by 105 · see citing works
ALS disrupts spinal motor neuron maturation and aging pathways within gene co-expression networks
Ho, R., Sances, S., Gowing, G., Mathis, M. W., O'Rourke, J., Sahabian, A., Wichterle, H., Baloh, R., Sareen, D., & Svendsen, C. (2016) · Nature Neuroscience · doi:10.1038/nn.4345 · Cited by 104 · see citing works
PIKFYVE inhibition mitigates disease in models of diverse forms of ALS
Hung, S., Linares, G. R., Chang, W.-H., Eoh, Y., Krishnan, G., Mendonca, S., Hong, S., Shi, Y., Santana, M., Kueth, C., et al. (2023) · Cell · doi:10.1016/j.cell.2023.01.005 · Cited by 102 · see citing works
Silva, M. C., Cheng, C., Mair, W., Almeida, S., Fong, H., Biswas, M. H. U., Zhang, Z., Huang, Y., Temple, S., Coppola, G., et al. (2016) · Stem Cell Reports · doi:10.1016/j.stemcr.2016.08.001 · Cited by 103 · see citing works
Ludolph, A. C., Brettschneider, J., & Weishaupt, J. H. (2012) · Current Opinion in Neurology · doi:10.1097/wco.0b013e328356d328 · Cited by 103 · see citing works
Giacomelli, E., Vahsen, B. F., Calder, E. L., Xu, Y., Scaber, J., Gray, E., Dafinca, R., Talbot, K., & Studer, L. (2022) · Cell stem cell · doi:10.1016/j.stem.2021.12.008 · Cited by 97 · see citing works
ALS-associated KIF5A mutations abolish autoinhibition resulting in a toxic gain of function
Baron, D. M., Fenton, A. R., Sáez-Atiénzar, S., Giampetruzzi, A., Sreeram, A., Shankaracharya, Keagle, P. J., Doocy, V. R., Smith, N. J., Danielson, E., et al. (2022) · Cell Reports · doi:10.1016/j.celrep.2022.110598 · Cited by 98 · see citing works
Endocytosis regulates TDP-43 toxicity and turnover
Liu, G., Coyne, A. N., Pei, F., Vaughan, S., Chaung, M., Zarnescu, D. C., & Buchan, J. R. (2017) · Nature Communications · doi:10.1038/s41467-017-02017-x · Cited by 97 · see citing works
Ichiyanagi, N., Fujimori, K., Yano, M., Ishihara-Fujisaki, C., Sone, T., Akiyama, T., Okada, Y., Akamatsu, W., Matsumoto, T., Ishikawa, M., et al. (2016) · Stem Cell Reports · doi:10.1016/j.stemcr.2016.02.011 · Cited by 93 · see citing works
Kreiter, N., Pal, A., Lojewski, X., Corcia, P., Naujock, M., Reinhardt, P., Sterneckert, J. L., Petri, S., Wegner, F., Storch, A., et al. (2018) · Neurobiology of Disease · doi:10.1016/j.nbd.2018.03.010 · Cited by 88 · see citing works
Hosoya, M., Fujioka, M., Sone, T., Okamoto, S., Akamatsu, W., Ukai, H., Ueda, H. R., Ogawa, K., Matsunaga, T., & Okano, H. (2017) · Cell Reports · doi:10.1016/j.celrep.2016.12.020 · Cited by 87 · see citing works
Human pluripotent stem cell–derived models and drug screening in CNS precision medicine
Silva, M. C., & Haggarty, S. J. (2019) · Annals of the New York Academy of Sciences · doi:10.1111/nyas.14012 · Cited by 82 · see citing works
Haston, K. M., & Finkbeiner, S. M. (2015) · The Annual Review of Pharmacology and Toxicology · doi:10.1146/annurev-pharmtox-010715-103548 · Cited by 81 · see citing works
Self-citationTelezhkin, V., Schnell, C., Yarova, P., Yung, S., Cope, E. L., Hughes, A., Thompson, B. A. N., Sanders, P., Smith-Geater, C., Hancock, J. M., et al. (2015) · American Journal of Physiology-Cell Physiology · doi:10.1152/ajpcell.00166.2015 · Cited by 80 · see citing works
Livesey, M. R., Magnani, D., Cleary, E. M., Vasistha, N. A., James, O. T., Selvaraj, B. T., Burr, K., Story, D., Shaw, C. E., Kind, P. C., et al. (2016) · Stem Cells · doi:10.1002/stem.2273 · Cited by 79 · see citing works
Self-citationGelatin‐Based Biomaterials For Tissue Engineering And Stem Cell Bioengineering
Nikkhah, M., Akbari, M., Paul, A., Memić, A., Dolatshahi‐Pirouz, A., & Khademhosseini, A. (2016) · doi:10.1002/9781119126218.ch3 · Cited by 81 · see citing works
A robust TDP-43 knock-in mouse model of ALS
Huang, S., Wu, L.-S., Lee, M., Chang, C.-W., Cheng, W.-C., Fang, Y.-S., Chen, Y., Cheng, P., & Shen, C.-K. J. (2020) · Acta Neuropathologica Communications · doi:10.1186/s40478-020-0881-5 · Cited by 77 · see citing works
Modeling ALS and FTD with iPSC-derived neurons
Lee, S., & Huang, E. J. (2015) · Brain Research · doi:10.1016/j.brainres.2015.10.003 · Cited by 77 · see citing works
MAP4K4 Activation Mediates Motor Neuron Degeneration in Amyotrophic Lateral Sclerosis
Wu, C., Watts, M. E., & Rubin, L. L. (2019) · Cell Reports · doi:10.1016/j.celrep.2019.01.019 · Cited by 76 · see citing works
Fuller, H. R., Mandefro, B., Shirran, S. L., Gross, A. R., Kaus, A. S., Botting, C. H., Morris, G. E., & Sareen, D. (2016) · Frontiers in Cellular Neuroscience · doi:10.3389/fncel.2015.00506 · Cited by 76 · see citing works
Harschnitz, O., van den Berg, L. H., Johansen, L. E., Jansen, M., Kling, S., de Sá, R. V., Vlam, L., van Rheenen, W., Karst, H., Wierenga, C. J., et al. (2016) · Annals of Neurology · doi:10.1002/ana.24680 · Cited by 74 · see citing works
TDP-43 pathology: From noxious assembly to therapeutic removal
Keating, S. S., Gil, R. S., Swanson, M. E. V., Scotter, E. L., & Walker, A. K. (2022) · Progress in Neurobiology · doi:10.1016/j.pneurobio.2022.102229 · Cited by 74 · see citing works
Oiwa, K., Watanabe, S., Onodera, K., Iguchi, Y., Kinoshita, Y., Komine, O., Sobue, A., Okada, Y., Katsuno, M., & Yamanaka, K. (2023) · Science Advances · doi:10.1126/sciadv.adf6895 · Cited by 73 · see citing works
Handley, E. E., Pitman, K. A., Dawkins, E., Young, K. M., Clark, R. M., Jiang, T., Turner, B. J., Dickson, T. C., & Blizzard, C. A. (2016) · Cerebral Cortex · doi:10.1093/cercor/bhw185 · Cited by 73 · see citing works
Modeling cell-autonomous motor neuron phenotypes in ALS using iPSCs
Hawrot, J., Imhof, S., & Wainger, B. J. (2020) · Neurobiology of Disease · doi:10.1016/j.nbd.2019.104680 · Cited by 74 · see citing works
Olesen, M. A., Villavicencio-Tejo, F., & Quintanilla, R. A. (2022) · Translational Neurodegeneration · doi:10.1186/s40035-022-00308-y · Cited by 71 · see citing works
Katt, M. E., Mayo, L. N., Ellis, S., Mahairaki, V., Rothstein, J. D., Cheng, L., & Searson, P. C. (2019) · Fluids and Barriers of the CNS · doi:10.1186/s12987-019-0139-4 · Cited by 69 · see citing works
iPSC technology to study human aging and aging-related disorders
Liu, G., Ding, Z., & Belmonte, J. C. I. (2012) · Current Opinion in Cell Biology · doi:10.1016/j.ceb.2012.08.014 · Cited by 69 · see citing works
Connecting TDP-43 Pathology with Neuropathy
Klim, J. R., Pintacuda, G., Nash, L. A., Juan, I. G. S., & Eggan, K. C. (2021) · Trends in Neurosciences · doi:10.1016/j.tins.2021.02.008 · Cited by 65 · see citing works
Organs to Cells and Cells to Organoids: The Evolution of in vitro Central Nervous System Modelling
Pacitti, D., Privolizzi, R., & Bax, B. E. (2019) · Frontiers in Cellular Neuroscience · doi:10.3389/fncel.2019.00129 · Cited by 64 · see citing works
TARDBP Mutation Analysis in TDP-43 Proteinopathies and Deciphering the Toxicity of Mutant TDP-43
Gendron, T. F., Rademakers, R., & Petrucelli, L. (2012) · Journal of Alzheimer s Disease · doi:10.3233/jad-2012-129036 · Cited by 67 · see citing works
TDP-43 enhances translation of specific mRNAs linked to neurodegenerative disease
Neelagandan, N., Gonnella, G., Dang, S., Janiesch, P. C., Miller, K. K., Küchler, K., Marques, R. F., Indenbirken, D., Alawi, M., Grundhoff, A. T., et al. (2018) · Nucleic Acids Research · doi:10.1093/nar/gky972 · Cited by 67 · see citing works
Utility of iPSC-Derived Cells for Disease Modeling, Drug Development, and Cell Therapy
Nicholson, M. W., Ting, C.-Y., Chan, D. Z. H., Cheng, Y.-C., Lee, Y.-C., Hsu, C.-C., Huang, C.-Y., & Hsieh, P. C. H. (2022) · Cells · doi:10.3390/cells11111853 · Cited by 66 · see citing works
“Familial ALS patient iPSC-derived motor neurons with TDP-43 mutation showed decreased voltage-activated Na+ and K+ currents and increased vulnerability [39].”
BackgroundPopescu, I. R., Nicaise, C., Liu, S., Bisch, G., Knippenberg, S., Daubie, V., Bohl, D., & Pochet, R. (2013) · Stem Cells Translational Medicine · doi:10.5966/sctm.2012-0042 · Cited by 66 · see citing works
Xu, X., & Zhong, Z. (2013) · Acta Pharmacologica Sinica · doi:10.1038/aps.2013.63 · Cited by 64 · see citing works
Congenital amegakaryocytic thrombocytopenia iPS cells exhibit defective MPL-mediated signaling.
Hirata, S., Takayama, N., Jono-Ohnishi, R., Endo, H., Nakamura, S., Dohda, T., Nishi, M., Hamazaki, Y., Ishii, E., Kaneko, S., et al. (2013) · Journal of Clinical Investigation · doi:10.1172/jci64721 · Cited by 62 · see citing works
Modeling Huntington's disease with induced pluripotent stem cells
Kaye, J., & Finkbeiner, S. M. (2013) · Molecular and Cellular Neuroscience · doi:10.1016/j.mcn.2013.02.005 · Cited by 65 · see citing works
Self-citationInduced pluripotent stem cells from ALS patients for disease modeling
Richard, J., & Maragakis, N. J. (2014) · Brain Research · doi:10.1016/j.brainres.2014.09.017 · Cited by 65 · see citing works
Generating Human Neurons In Vitro and Using Them to Understand Neuropsychiatric Disease
Pașca, S. P., Panagiotakos, G., & Dolmetsch, R. E. (2014) · Annual Review of Neuroscience · doi:10.1146/annurev-neuro-062012-170328 · Cited by 64 · see citing works
Current Advances and Limitations in Modeling ALS/FTD in a Dish Using Induced Pluripotent Stem Cells
Guo, W., Fumagalli, L., Prior, R. C., & Bosch, L. V. D. (2017) · Frontiers in Neuroscience · doi:10.3389/fnins.2017.00671 · Cited by 59 · see citing works
Astrocytes as targets for drug discovery
Gorshkov, K., Aguisanda, F., Thorne, N., & Zheng, W. (2018) · Drug Discovery Today · doi:10.1016/j.drudis.2018.01.011 · Cited by 62 · see citing works
Qiang, L., Fujita, R., & Abeliovich, A. (2013) · Neuron · doi:10.1016/j.neuron.2013.06.002 · Cited by 59 · see citing works
Corti, S. P., Faravelli, I., Cardano, M., & Conti, L. (2015) · Expert Opinion on Drug Discovery · doi:10.1517/17460441.2015.1037737 · Cited by 59 · see citing works
Paré, B., Touzel‐Deschênes, L., Lamontagne, R., Lamarre, M.-S., Scott, F.-D., Khuong, H. T., Dion, P. A., Bouchard, J.-P., Gould, P. V., Rouleau, G. A., et al. (2015) · Acta Neuropathologica Communications · doi:10.1186/s40478-014-0181-z · Cited by 58 · see citing works
Implications of Selective Autophagy Dysfunction for ALS Pathology
Vicencio, E., Beltrán, S., Labrador, L., Manque, P., Nassif, M., & Woehlbier, U. (2020) · Cells · doi:10.3390/cells9020381 · Cited by 58 · see citing works
Srikanth, P., & Young‐Pearse, T. L. (2014) · Journal of Neurogenetics · doi:10.3109/01677063.2014.881358 · Cited by 56 · see citing works
Yang, C., Qiao, T., Yu, J. H., Wang, H., Guo, Y., Salameh, J. S., Metterville, J., Parsi, S., Yusuf, I. O., Brown, R. H., et al. (2022) · PLoS ONE · doi:10.1371/journal.pone.0255710 · Cited by 57 · see citing works
- 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 › Neurology › Amyotrophic Lateral Sclerosis Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Pluripotent Stem Cells Research
- Health Sciences › Medicine › Physiology › 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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