TARDBP mutations in amyotrophic lateral sclerosis with TDP-43 neuropathology: a genetic and histopathological analysis
Open accessAbstract
Background TDP-43 is a major component of the ubiquitinated inclusions that characterise amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD) with ubiquitin inclusions (FTLD-U). TDP-43 is an RNA-binding and DNA-binding protein that has many functions and is encoded by the TAR DNA-binding protein gene (TARDBP) on chromosome 1. Our aim was to investigate whether TARDBP is a candidate disease gene for familial ALS that is not associated with mutations in superoxide dismutase 1 (SOD1).Methods TARDBP was sequenced in 259 patients with ALS, FTLD, or both. We used TaqMan-based SNP genotyping to screen for the identified variants in control groups matched to two kindreds of patients for age and ethnic origin. Additional clinical, genetic, and pathological assessments were made in these two families.Findings We identified two variants in TARDBP, which would encode Gly290Ala and Gly298Ser forms of TDP-43, in two kindreds with familial ALS. The variants seem to be pathogenic because they co-segregated with disease in both families, were absent in controls, and were associated with TDP-43 neuropathology in both members of one of these families for whom CNS tissue was available.Interpretation The Gly290Ala and Gly298Ser mutations are located in the glycine-rich domain of TDP-43, which regulates gene expression and mediates protein-protein interactions such as those with heterogeneous ribonucleoproteins. Owing to the varied and important cellular functions of TDP-43, these mutations might cause neurodegeneration through both gains and losses of function. The finding of pathogenic mutations in TARDBP implicates TDP-43 as an active mediator of neurodegeneration in TDP-43 proteinopathies, a class of disorder that includes ALS and FTLD-U.Funding National Institutes of Health (AG10124, AG17586, AG005136-22, PO1 AG14382), Department of Veterans Affairs, Friedrich-Baur Stiftung (0017/2007), US Public Health Service, ALS Association, and Fundació 'la Caixa'.
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Mutations in TARDBP are the third most common cause of familial autosomal dominant ALS and account for rare cases of sporadic ALS.
“Mutations in TARDBP, which encodes the transactive response DNA binding protein 43 kDa (TDP-43), are the third most common cause of familial autosomal dominant ALS and account for rare cases of sporadic ALS [290–293].”
From Autophagy and ALS: mechanistic insights and therapeutic implications (2022) · cites this paper as [292]
Cites
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
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
ALS: A Disease of Motor Neurons and Their Nonneuronal Neighbors
Boillée, S., Velde, C. V., & Cleveland, D. W. (2006) · Neuron · doi:10.1016/j.neuron.2006.09.018 · Cited by 1,426 · see citing works
Nishimura, A. L., Mitne‐Neto, M., da Silva, H. C. A., Richieri‐Costa, A., Middleton, S., Cascio, D., Kok, F., de Oliveira, J. R. M., Gillingwater, T. H., Webb, J., et al. (2004) · The American Journal of Human Genetics · doi:10.1086/425287 · Cited by 995 · see citing works
Mackenzie, I. R. A., Bigio, E. H., Ince, P. G., Geser, F., Neumann, M., Cairns, N. J., Kwong, L. K., Forman, M. S., Ravits, J., Stewart, H., et al. (2007) · Annals of Neurology · doi:10.1002/ana.21147 · Cited by 992 · see citing works
Self-citationMutant dynactin in motor neuron disease
Puls, I., Jonnakuty, C., LaMonte, B. H., Holzbaur, E. L. F., Tokito, M. K., MANN, E. A., Floeter, M. K., Bidus, K., Drayna, D. T., Oh, S. J., et al. (2003) · Nature Genetics · doi:10.1038/ng1123 · Cited by 961 · see citing works
DNA/RNA Helicase Gene Mutations in a Form of Juvenile Amyotrophic Lateral Sclerosis (ALS4)
Chen, Y.-Z., Bennett, C. L., Huynh, H. M., Blair, I. P., Puls, I., Irobi, J., Dierick, I., Abel, A., Kennerson, M. L., Rabin, B. A., et al. (2004) · The American Journal of Human Genetics · doi:10.1086/421054 · Cited by 809 · see citing works
Ou, S.-H. I., Wu, F. K., Harrich, D., Garcı́a-Martı́nez, L. F., & Gaynor, R. B. (1995) · Journal of Virology · doi:10.1128/jvi.69.6.3584-3596.1995 · Cited by 762 · see citing works
Yang, Y., Hentati, A., Deng, H.-X., Dabbagh, O., Sasaki, T., Hirano, M., Hung, W.-Y., Ouahchi, K., Yan, J., Azim, A. C., et al. (2001) · Nature Genetics · doi:10.1038/ng1001-160 · Cited by 743 · see citing works
A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2
Hadano, S., Hand, C. K., Osuga, H., Yanagisawa, Y., Otomo, A., Devon, R. S., Miyamoto, N., Showguchi-Miyata, J., Okada, Y., Singaraja, R. R., et al. (2001) · Nature Genetics · doi:10.1038/ng1001-166 · Cited by 676 · see citing works
ANG mutations segregate with familial and 'sporadic' amyotrophic lateral sclerosis
Greenway, M. J., Andersen, P. M., Russ, C., Ennis, S., Cashman, S., Donaghy, C. G., Patterson, V., Swingler, R. J., Kieran, D., Prehn, J. H. M., et al. (2006) · Nature Genetics · doi:10.1038/ng1742 · Cited by 668 · see citing works
Nuclear factor TDP‐43 and SR proteins promote in vitro and in vivo CFTR exon 9 skipping
Buratti, E., Dörk, T., Zuccato, E., Pagani, F., Romano, M., & Baralle, F. E. (2001) · The EMBO Journal · doi:10.1093/emboj/20.7.1774 · Cited by 633 · 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
Are amyotrophic lateral sclerosis patients cognitively normal?
Lomen-Hoerth, C., Murphy, J. M., Langmore, S. E., Kramer, J. H., Olney, R. K., & Miller, B. L. (2003) · Neurology · doi:10.1212/01.wnl.0000055861.95202.8d · Cited by 616 · see citing works
Multiple roles of TDP-43 in gene expression, splicing regulation, and human disease
Buratti, E. (2007) · Frontiers in bioscience · doi:10.2741/2727 · Cited by 493 · see citing works
TDP-43 Binds Heterogeneous Nuclear Ribonucleoprotein A/B through Its C-terminal Tail
Buratti, E., Brindisi, A., Giombi, M., Tisminetzky, S. G., Ayala, Y. M., & Baralle, F. E. (2005) · Journal of Biological Chemistry · doi:10.1074/jbc.m505557200 · Cited by 454 · see citing works
Point mutations of the p150 subunit of dynactin ( DCTN1 ) gene in ALS
Münch, C., Sedlmeier, R., Meyer, T., Homberg, V., Sperfeld, A. D., Kurt, A., Prudlo, J., Peraus, G., Hanemann, C. O., Stumm, G., et al. (2004) · Neurology · doi:10.1212/01.wnl.0000134608.83927.b1 · Cited by 422 · see citing works
Vance, C. A., Al‐Chalabi, A., Ruddy, D., Smith, B. N., Hu, X., Sreedharan, J., Siddique, T., Schelhaas, H. J., Küsters, B., Troost, D., et al. (2006) · Brain · doi:10.1093/brain/awl030 · Cited by 392 · see citing works
Ayala, Y. M., Pantano, S., D’Ambrogio, A., Buratti, E., Brindisi, A., Marchetti, C., Romano, M., & Baralle, F. E. (2005) · Journal of Molecular Biology · doi:10.1016/j.jmb.2005.02.038 · Cited by 375 · see citing works
A locus on chromosome 9p confers susceptibility to ALS and frontotemporal dementia
Morita, M., Al‐Chalabi, A., Andersen, P. M., Hosler, B. A., Sapp, P. C., Englund, E. M., Mitchell, J. E., Habgood, J., de Belleroche, J., Xi, J., et al. (2006) · Neurology · doi:10.1212/01.wnl.0000200048.53766.b4 · Cited by 356 · see citing works
Structural diversity and functional implications of the eukaryotic TDP gene family
Wang, H., Wang, I., Bose, J. K., & Shen, C. ‐. J. (2003) · Genomics · doi:10.1016/s0888-7543(03)00214-3 · Cited by 306 · see citing works
Genetics of familial and sporadic amyotrophic lateral sclerosis
Gros‐Louis, F., Gaspar, C., & Rouleau, G. A. (2006) · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · doi:10.1016/j.bbadis.2006.01.004 · Cited by 256 · see citing works
Mercado, P. A. (2005) · Nucleic Acids Research · doi:10.1093/nar/gki897 · Cited by 226 · see citing works
Continuum of Frontal Lobe Impairment in Amyotrophic Lateral Sclerosis
Murphy, J. M., Henry, R. G., Langmore, S. E., Kramer, J. H., Miller, B. L., & Lomen, C. E. (2007) · Archives of Neurology · doi:10.1001/archneur.64.4.530 · Cited by 214 · see citing works
TDP-43 Proteinopathy in Frontotemporal Lobar Degeneration and Amyotrophic Lateral Sclerosis
Neumann, M., Kwong, L. K., Sampathu, D. M., Trojanowski, J. Q., & Lee, V. M. ‐. (2007) · Archives of Neurology · doi:10.1001/archneur.64.10.1388 · Cited by 197 · see citing works
Self-citationBuratti, E., Brindisi, A., Pagani, F., & Baralle, F. E. (2004) · The American Journal of Human Genetics · doi:10.1086/420978 · Cited by 187 · see citing works
Trojanowski, J. Q., & LEE, V. M. ‐. (2000) · Annals of the New York Academy of Sciences · doi:10.1111/j.1749-6632.2000.tb05561.x · Cited by 184 · see citing works
Self-citationLeverenz, J. B., Fishel, M. A., Peskind, E. R., Montine, T. J., Nochlin, D., Steinbart, E., Raskind, M. A., Schellenberg, G. D., Bird, T. D., & Tsuang, D. (2006) · Archives of Neurology · doi:10.1001/archneur.63.3.370 · Cited by 139 · see citing works
Self-citationLeverenz, J. B., Yu, C. E., Montine, T. J., Steinbart, E., Bekris, L. M., Zabetian, C., Kwong, L. K., Lee, V. M.-Y., Schellenberg, G. D., & Bird, T. D. (2007) · Brain · doi:10.1093/brain/awm069 · Cited by 129 · see citing works
Self-citationValdmanis, P. N., Dupré, N., Bouchard, J.-P., Camu, W., Salachas, F., Meininger, V., Strong, M. J., & Rouleau, G. A. (2007) · Archives of Neurology · doi:10.1001/archneur.64.2.240 · Cited by 120 · see citing works
A Novel CpG-free Vertebrate Insulator Silences the Testis-specific SP-10 Gene in Somatic Tissues
Abhyankar, M. M., Urekar, C., & Reddi, P. P. (2007) · Journal of Biological Chemistry · doi:10.1074/jbc.m705811200 · Cited by 108 · see citing works
Establishing Subtypes of the Continuum of Frontal Lobe Impairment in Amyotrophic Lateral Sclerosis
Murphy, J. M., Henry, R. G., & Lomen‐Hoerth, C. (2007) · Archives of Neurology · doi:10.1001/archneur.64.3.330 · Cited by 96 · see citing works
Neuronal inclusion protein TDP-43 has no primary genetic role in FTD and ALS
Gijselinck, I., Sleegers, K., Engelborghs, S., Robberecht, W., Martin, J., Vandenberghe, R. R., Sciot, R., Dermaut, B., Goossens, D., van der Zee, J., et al. (2008) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2007.11.002 · Cited by 85 · see citing works
Frontotemporal Lobar Degeneration: Current Concepts in the Light of Recent Advances
Kumar‐Singh, S., & Broeckhoven, C. V. (2007) · Brain Pathology · doi:10.1111/j.1750-3639.2007.00055.x · Cited by 72 · see citing works
TDP-43 gene analysis in frontotemporal lobar degeneration
Rollinson, S. J., Snowden, J. S., Neary, D., Morrison, K. E., Mann, D. M. A., & Pickering-Brown, S. M. (2007) · Neuroscience Letters · doi:10.1016/j.neulet.2007.03.044 · Cited by 44 · see citing works
?-Synuclein in motor neuron disease: an immunohistologic study
Doherty, M. J., Bird, T. D., & Leverenz, J. B. (2004) · Acta Neuropathologica · doi:10.1007/s00401-003-0790-2 · Cited by 28 · see citing works
Self-citationMotor Neuron Disease and Frontotemporal Lobar Degeneration: A Tale of Two Disorders Linked To TDP-43
Elman, L. B., McCluskey, L. F., & Grossman, M. (2007) · Neurosignals · doi:10.1159/000109762 · Cited by 14 · see citing works
Self-citation
Flagged first, then by citations
Cited by
Sorted by citations
Kiernan, M. C., Vucic, S., Cheah, B. C., Turner, M. R., Eisen, A., Hardiman, O., Burrell, J. R., & Zoing, M. C. (2011) · The Lancet · doi:10.1016/s0140-6736(10)61156-7 · Cited by 2,603 · see citing works
Converging Mechanisms in ALS and FTD: Disrupted RNA and Protein Homeostasis
Ling, S.-C., Polymenidou, M., & Cleveland, D. W. (2013) · Neuron · doi:10.1016/j.neuron.2013.07.033 · Cited by 1,811 · 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
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
TDP-43 mutant transgenic mice develop features of ALS and frontotemporal lobar degeneration
Wegorzewska, I., Bell, S., Cairns, N. J., Miller, T. M., & Baloh, R. H. (2009) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0908767106 · Cited by 706 · see citing works
Gains or losses: molecular mechanisms of TDP43-mediated neurodegeneration
Lee, E. B., Lee, V. M.-Y., & Trojanowski, J. Q. (2012) · Nature Reviews Neuroscience · doi:10.1038/nrn3121 · Cited by 659 · see citing works
Self-citationClinical, genetic and pathological heterogeneity of frontotemporal dementia: A review
Seelaar, H., Rohrer, J. D., Pijnenburg, Y. A. L., Fox, N. C., & van Swieten, J. C. (2011) · Journal of Neurology, Neurosurgery & Psychiatry · doi:10.1136/jnnp.2010.212225 · Cited by 609 · 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
Extracellular vesicles in neurodegenerative disease — pathogenesis to biomarkers
Thompson, A. G., Gray, E., Heman-Ackah, S. M., Mäger, I., Talbot, K., Andaloussi, S. E., Wood, M. J., & Turner, M. R. (2016) · Nature Reviews Neurology · doi:10.1038/nrneurol.2016.68 · Cited by 431 · see citing works
Sellier, C., Campanari, M., Julie Corbier, C., Gaucherot, A., Kolb‐Cheynel, I., Oulad‐Abdelghani, M., Ruffenach, F., Page, A., Ciura, S., Kabashi, E., et al. (2016) · The EMBO Journal · doi:10.15252/embj.201593350 · Cited by 414 · see citing works
Effects of gender in amyotrophic lateral sclerosis
McCombe, P. A., & Henderson, R. D. (2010) · Gender Medicine · doi:10.1016/j.genm.2010.11.010 · Cited by 379 · see citing works
Loss of murine TDP-43 disrupts motor function and plays an essential role in embryogenesis
Kraemer, B. C., Schuck, T., Wheeler, J. M., Robinson, L. C., Trojanowski, J. Q., Lee, V. M. Y., & Schellenberg, G. D. (2010) · Acta Neuropathologica · doi:10.1007/s00401-010-0659-0 · Cited by 350 · see citing works
Self-citationBilican, B., Serio, A., Barmada, S. J., Nishimura, A. L., Sullivan, G. J., Carrasco, M., Phatnani, H. P., Puddifoot, C. A., Story, D., Fletcher, J., et al. (2012) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1202922109 · Cited by 328 · see citing works
Alexander, A. G., Marfil, V., & Li, C. (2014) · Frontiers in Genetics · doi:10.3389/fgene.2014.00279 · Cited by 310 · see citing works
TDP-43 activates microglia through NF-κB and NLRP3 inflammasome
Zhao, W., Beers, D. R., Bell, S., Wang, J., Wen, S., Baloh, R. H., & Appel, S. H. (2015) · Experimental Neurology · doi:10.1016/j.expneurol.2015.07.019 · Cited by 241 · see citing works
Toledo, J. B., Van Deerlin, V. M., Lee, E. B., Suh, E., Baek, Y., Robinson, J. L., Xie, S. X., McBride, J., Wood, E. M., Schuck, T., et al. (2014) · Alzheimer's & Dementia · doi:10.1016/j.jalz.2013.06.003 · Cited by 234 · see citing works
Self-citationGeser, F., Lee, V. M.-Y., & Trojanowski, J. Q. (2010) · Neuropathology · doi:10.1111/j.1440-1789.2009.01091.x · Cited by 195 · see citing works
Self-citationNishihira, Y., Tan, C.-F., Onodera, O., Toyoshima, Y., Yamada, M., Morita, T., Nishizawa, M., Kakita, A., & Takahashi, H. (2008) · Acta Neuropathologica · doi:10.1007/s00401-008-0385-z · Cited by 187 · 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
Misregulated RNA processing in amyotrophic lateral sclerosis
Polymenidou, M., Lagier-Tourenne, C., Hutt, K. R., Bennett, C. F., Cleveland, D. W., & Yeo, G. W. (2012) · Brain Research · doi:10.1016/j.brainres.2012.02.059 · Cited by 169 · see citing works
The Complex Molecular Biology of Amyotrophic Lateral Sclerosis (ALS)
Redler, R. L., & Dokholyan, N. V. (2012) · Progress in Molecular Biology and Translational Science · doi:10.1016/b978-0-12-385883-2.00002-3 · Cited by 172 · see citing works
FUS is Phosphorylated by DNA-PK and Accumulates in the Cytoplasm after DNA Damage
Deng, Q., Holler, C. J., Taylor, G., Hudson, K. F., Watkins, W., Gearing, M., Ito, D., Murray, M. E., Dickson, D. W., Seyfried, N. T., et al. (2014) · Journal of Neuroscience · doi:10.1523/jneurosci.0172-14.2014 · Cited by 161 · see citing works
Review: neuropathology of non-tau frontotemporal lobar degeneration
Neumann, M., & Mackenzie, I. R. A. (2019) · Neuropathology and Applied Neurobiology · doi:10.1111/nan.12526 · Cited by 144 · see citing works
Self-citationCytoplasmic accumulation and aggregation of TDP-43 upon proteasome inhibition in cultured neurons.
van Eersel, J., Ke, Y. D., Gladbach, A., Bi, M., Götz, J., Kril, J. J., & Ittner, L. M. (2011) · PLoS ONE · doi:10.1371/journal.pone.0022850 · Cited by 130 · see citing works
Troakes, C., Maekawa, S., Wijesekera, L., Rogelj, B., Siklós, L., Bell, C., Smith, B., Newhouse, S., Vance, C., Johnson, L., et al. (2012) · Neuropathology · doi:10.1111/j.1440-1789.2011.01286.x · Cited by 124 · see citing works
Risk genotypes at TMEM106B are associated with cognitive impairment in amyotrophic lateral sclerosis
Vass, R., Ashbridge, E., Geser, F., Hu, W. T., Grossman, M., Clay-Falcone, D., Elman, L., McCluskey, L., Lee, V. M. Y., Van Deerlin, V. M., et al. (2011) · Acta Neuropathologica · doi:10.1007/s00401-010-0782-y · Cited by 119 · see citing works
Self-citationInflammation Induces TDP-43 Mislocalization and Aggregation
Correia, A. S., Patel, P., Dutta, K., & Julien, J.-P. (2015) · PLOS ONE · doi:10.1371/journal.pone.0140248 · Cited by 114 · 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
The role of the immune system in neurodegenerative disorders: Adaptive or maladaptive?
Doty, K. R., Guillot-Sestier, M.-V., & Town, T. (2015) · Brain Research · doi:10.1016/j.brainres.2014.09.008 · Cited by 104 · see citing works
Phosphorylated Tau as a Candidate Biomarker for Amyotrophic Lateral Sclerosis
Grossman, M., Elman, L., McCluskey, L., McMillan, C. T., Boller, A., Powers, J., Rascovsky, K., Hu, W., Shaw, L., Irwin, D. J., et al. (2014) · JAMA Neurology · doi:10.1001/jamaneurol.2013.6064 · Cited by 94 · see citing works
Self-citationTau and TDP-43 proteinopathies: kindred pathologic cascades and genetic pleiotropy
Chornenkyy, Y., Fardo, D. W., & Nelson, P. T. (2019) · Laboratory Investigation · doi:10.1038/s41374-019-0196-y · Cited by 93 · see citing works
ALS and frontotemporal dysfunction: a review
Achi, E. Y., & Rudnicki, S. A. (2012) · Neurology Research International · doi:10.1155/2012/806306 · Cited by 74 · see citing works
Seilhean, D., Cazeneuve, C., Thuriès, V., Russaouen, O., Millecamps, S., Salachas, F., Meininger, V., LeGuern, E., & Duyckaerts, C. (2009) · Acta Neuropathologica · doi:10.1007/s00401-009-0545-9 · Cited by 71 · see citing works
Guerrero, E. N., Mitra, J., Wang, H., Rangaswamy, S., Hegde, P. M., Basu, P., Rao, K. S., & Hegde, M. L. (2019) · Human Molecular Genetics · doi:10.1093/hmg/ddz062 · Cited by 68 · see citing works
Martinez-Nunez, A. E., Guo, J., Dorsey, E. R., Ruffing, K. W., Wymer, J., & Okun, M. S. (2026) · BMJ Neurology Open · doi:10.1136/bmjno-2026-001574 · Cited by 1 · see citing works
- Authors
- 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., Steinbart, E., McCluskey, L., Grossman, M., Neumann, M., Wu, I.-L., Yang, W.-S., Kalb, R., Galasko, D. R., Montine, T. J., Trojanowski, J. Q., Lee, V. M.-Y., Schellenberg, G. D., & Yu, C.-E.
- Affiliations
- University of Washington (US)
- VA Puget Sound Health Care System (US)
- University of Pennsylvania (US)
- Institut für Neuropathologie (DE)
- National Taiwan University (TW)
- Children's Hospital of Philadelphia (US)
- University of San Diego (US)
- Corresponding author
- Schellenberg, Gerard D
- ORCID
- Venue
- The Lancet Neurology
- Publisher
- Elsevier BV
- Published
- 2008-05
- Volume
- 7
- Issue
- 5
- Pages
- 409-416
- ISSN
- 1474-4422 (ISSN-L)
- PMC
- PMC3546119
- OpenAlex
- W2159556459
- Cited by
- 723
- References
- 39
- Citations by year
- 2026: 13 · 2025: 28 · 2024: 28 · 2023: 20 · 2022: 36 · 2021: 30 · 2020: 30 · 2019: 27 · 2018: 43 · 2017: 22 · 2016: 30 · 2015: 38 · 2014: 44 · 2013: 45 · 2012: 47
- FWCI
- 50.81
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- The Lancet Neurology (publishedVersion)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- Funders
- National Institutes of Health
- National Institute on Aging (P01AG014382, P30AG010124, P01AG017586, P50AG005136)
- Topics
- Health Sciences › Medicine › Neurology › Amyotrophic Lateral Sclerosis Research
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Hereditary Neurological Disorders
- Health Sciences › Medicine › Physiology › Alzheimer's disease research and treatments
- Keywords
- TARDBP, TDP-43, amyotrophic lateral sclerosis, familial ALS, frontotemporal lobar degeneration, FTLD-U, TDP-43 proteinopathy, glycine-rich domain, co-segregation, neurodegeneration
- MeSH terms
- Adolescent, Adult, Aged, Aged, 80 and over, Alanine, Amyotrophic Lateral Sclerosis, Brain, Child, Dementia, DNA Mutational Analysis, DNA-Binding Proteins, Family Health, Female, Glycine, Humans, Male, Middle Aged, Serine, Polymorphism, Single Nucleotide, Ubiquitin
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
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