TDP ‐ 43 mutation in familial amyotrophic lateral sclerosis

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Ubiquitinated TDP-43 in Frontotemporal Lobar Degeneration and Amyotrophic Lateral Sclerosis

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TDP-43 is a component of ubiquitin-positive tau-negative inclusions in frontotemporal lobar degeneration and amyotrophic lateral sclerosis

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α-Synuclein is phosphorylated in synucleinopathy lesions

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Pathological TDP‐43 distinguishes sporadic amyotrophic lateral sclerosis from amyotrophic lateral sclerosis with SOD1 mutations

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TDP-43 Binds Heterogeneous Nuclear Ribonucleoprotein A/B through Its C-terminal Tail

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Progranulin Mediates Caspase-Dependent Cleavage of TAR DNA Binding Protein-43

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UBIQUITIN-IMMUNOREACTIVE INTRANEURONAL INCLUSIONS IN AMYOTROPHIC LATERAL SCLEROSIS

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TDP-43 immunoreactivity in neuronal inclusions in familial amyotrophic lateral sclerosis with or without SOD1 gene mutation

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TDP-43 proteinopathy: the neuropathology underlying major forms of sporadic and familial frontotemporal lobar degeneration and motor neuron disease

Kwong, L. K., Neumann, M., Sampathu, D. M., Lee, V. M. ‐., & Trojanowski, J. Q. (2007) · Acta Neuropathologica · doi:10.1007/s00401-007-0226-5 · Cited by 231

RNP2 of RNA Recognition Motif 1 Plays a Central Role in the Aberrant Modification of TDP-43

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Neuroprotective Effects of Glucosinolates

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RABGGTB plays a critical role in ALS pathogenesis

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Analysis of RNA metabolism in peripheral WBCs of TDP-43 KI mice identifies novel biomarkers of ALS

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Neuroprotective Effects of Glucosinolates

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TDP–43, Protein Aggregation, and Amyotrophic Lateral Sclerosis

Kabashi, E., Valdmanis, P. N., Daoud, H., Belzil, V., Dion, P. A., & Rouleau, G. A. (2010) · touchREVIEWS in Neurology · doi:10.17925/usn.2010.05.02.35 · Cited by 4

Accumulation of TDP-43 causes karyopherin-α4 pathology that characterises amyotrophic lateral sclerosis

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Genetic factors in frontotemporal dementia: A review

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A Major Genetic Factor at Chromosome 9p Implicated in Amyotrophic Lateral Sclerosis (ALS) and Frontotemporal Lobar Degeneration (FTLD)

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Cytoplasmic TDP ‐43 accumulation in cells of the adrenal medulla in individuals with or without amyotrophic lateral sclerosis

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FTLD/ALS as TDP-43 proteinopathies

Ishihara, T., Ariizumi, Y., Shiga, A., Yokoseki, A., Sato, T., Toyoshima, Y., Kakita, A., Takahashi, H., Nishizawa, M., & Onodera, O. (2010) · Rinsho Shinkeigaku · doi:10.5692/clinicalneurol.50.1022 · Cited by 3

Recent progress in ALS research: ALS and TDP-43

Kuzuhara, S. (2008) · Rinsho Shinkeigaku · doi:10.5692/clinicalneurol.48.625 · Cited by 3

An early history of Japanese amyotrophic lateral sclerosis (ALS)-related diseases and the current development

Abe, K. (2018) · Rinsho Shinkeigaku · doi:10.5692/clinicalneurol.cn-001095 · Cited by 3

Basic Concepts and Emergent Disease Mechanisms of Amyotrophic Lateral Sclerosis

Sirozh, O., Sáez-Mas, A., Lafarga, V., & Fernández-Capetillo, Ó. (2022) · Elsevier eBooks · doi:10.1016/b978-0-12-821618-7.00266-2 · Cited by 3

TDP-43: [GU]-ardian of the transcriptome

Sinha, I. R., Atkinson, A. L., Irwin, K. E., Ling, J. P., & Wong, P. C. (2026) · Molecular Neurodegeneration · doi:10.1186/s13024-026-00944-2 · Cited by 2

What's in the Literature?

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Treatmemt Options in Motor Neuron Disease: Amyotrophic Lateral Schlerosis and Spinal Muscular Atrophy

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Importance of the Q/N-rich segment for protein stability of endogenous mouse TDP-43

Sato, T., Oda, K., Sakai, S., Kato, R., Yamamori, S., Itakura, M., Kodera, Y., Nishizawa, M., Sasaoka, T., Onodera, O., et al. (2022) · Scientific Reports · doi:10.1038/s41598-022-19153-0 · Cited by 2

Amyotrophic lateral sclerosis

Lin, Z., Ibrahim, A. N., Brown, R. H., & Sreedharan, J. (2024) · Elsevier eBooks · doi:10.1016/b978-0-443-19176-3.00034-0 · Cited by 2

Dysregulated expanded endocannabinoid system as therapeutic targets of amyotrophic lateral sclerosisPreprint

Ito, D., Iida, M., Iguchi, Y., Hashizume, A., Yamada, S., Kishimoto, Y., Komori, S., Shimamura, T., Takemoto, Y., Nakatochi, M., et al. (2024) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2024.01.12.575341 · Cited by 2

The role of TDP-43 fragments in regular cellular functions and homeostatic failure

Dahlhaus, R., & Braun, R. J. (2026) · Neurobiology of Disease · doi:10.1016/j.nbd.2026.107349 · Cited by 1

The effect of GPNMB on muscular atrophy caused by ALS

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Semaphorins and Neurodegenerative Disorders

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A Review of our Neuropathological Studies of Amyotrophic Lateral Sclerosis

Okamoto, K. (2014) · The Kitakanto Medical Journal · doi:10.2974/kmj.64.109 · Cited by 1

The significance of the TDP-43 deposition in FTLD-U and ALS

Hasegawa, M., Arai, T., Nonaka, T., Kametani, F., Yoshida, M., Hashizume, Y., Beach, T. G., Morita, M., Nakano, I., Oda, T., et al. (2008) · Rinsho Shinkeigaku · doi:10.5692/clinicalneurol.48.994 · Cited by 1

What's in the Literature?

Simmons, Z. (2008) · Journal of Clinical Neuromuscular Disease · doi:10.1097/cnd.0b013e31818439c3 · Cited by 1

Memoirs of a neuropathologist who was unfit to be a clinician

Takahashi, H. (2023) · Free Neuropathology · doi:10.17879/freeneuropathology-2023-4741 · Cited by 1

Slow disease progression and characteristic TDP‐43 inclusions in a patient with familial amyotrophic lateral sclerosis carrying a TARDBP G357S variant

Sainouchi, M., Oginezawa, S., Tada, M., Ishihara, T., Onodera, O., & Kakita, A. (2024) · Neuropathology and Applied Neurobiology · doi:10.1111/nan.12966 · Cited by 1

TDP-43 Depletion: Mechanism of Neuronal Cell Death in ALS

Kitamura, A. (2018) · Future Neurology · doi:10.2217/fnl-2018-0010 · Cited by 1

Amyotrophic Lateral Sclerosis

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Preclinical and Clinical Applications of 1H MRS in the Spinal Cord

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What's in the Literature?

Simmons, Z. (2012) · Journal of Clinical Neuromuscular Disease · doi:10.1097/cnd.0b013e31824db0fe · Cited by 1

On the aetiology of ALS : a comprehensive genetic study

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Complexity of familial amyotrophic lateral sclerosis

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The basis of VCP-mediated degeneration: Insights from a Drosophila model of disease

Ritson, G. P. (2010) · Scholarly Commons (University of Pennsylvania)

Mechanically assisted cough in motor neurone disease

Rafiq, M. K. (2014) · White Rose eTheses Online (University of Leeds, The University of Sheffield, University of York)

Frontotemporal dementia (FTD) and genetic mutations including progranulin gene

Arai, T., Hasegawa, M., Nishihara, M., Nonaka, T., Kametani, F., Yoshida, M., Hashizume, Y., Beach, T. G., Morita, M., Nakano, I., et al. (2008) · Rinsho Shinkeigaku · doi:10.5692/clinicalneurol.48.990

Genetic characterization of patients with frontotemporal dementia and amyotrophic lateral sclerosis in the Nordic countries

Chiang, H. (2012) · Figshare

Mutant Superoxide Dismutase-1-caused pathogenesis in Amyotrophic Lateral Sclerosis

Bergemalm, D. (2010) · KTH Publication Database DiVA (KTH Royal Institute of Technology)

FUS Transgenic Rats Develop the Phenotypes of Amyotrophic Lateral Sclerosis and Frontotemporal

Huang, C., & Zhou, H. (2011)

Genetic Modification of Adeno-Associated Virus Capsid for Enhanced Motor Neuron Delivery and Retrograde Transport

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Conformational Disease and RNA Disease Theory in the Context of Neurodegenerative Diseases

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TDP-43 Amyotrophic Lateral Sclerosis and Frontotemporal Lobar Degeneration

Oyanagi, K., & Hashimoto, T. (2011) · 信州医学雑誌 · doi:10.11441/shinshumedj.59.63

The mechanism of Cu,Zn superoxide dismutase oligomerization in familial amyotrophic lateral sclerosis

Wilcox, K. C. (2009)

UNIVERSITÁ DEGLI STUDI DI MILANO FACOLTÁ DI MEDICINA E CHIRURGIA

Ricerca, D. D. (2010)

The clinical and pathological spectrum of TDP-43 associated ALS

Onodera, O., Yokoseki, A., Tan, C., Ishihara, T., Nishiira, Y., Toyoshima, Y., Kakita, A., Nishizawa, M., & Takahashi, H. (2010) · Rinsho Shinkeigaku · doi:10.5692/clinicalneurol.50.940

Molecular dissection of TDP-43 in ALS and FTLD

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mechanism with frontotemporal dementia muscle suggests a common pathogenic TDP-43 accumulation in inclusion body myopathy

Weihl, C. C., Temız, P., Miller, S., Watts, G. F., Smith, C., Forman, M. S., & Hanson, P. I. (2009)

A survey of axonal transport function and motor behaviour in Drosophila models of amyotrophic lateral sclerosis

Baldwin, K. R. (2015) · White Rose eTheses Online (University of Leeds, The University of Sheffield, University of York)

THE ROLE OF PEROXISOME PROLIFERATOR ACTIVATED RECEPTORS IN AMYOTROPHIC LATERAL SCLEROSIS: POTENTIAL MECHANISMS FOR NEUROPROTECTION

Benedusi, V. (2011) · Archivio Istituzionale della Ricerca (Universita Degli Studi Di Milano) · doi:10.13130/benedusi-valeria_phd2011-01-17

Animal Models of Frontotemporal Dementia

Dawson, H. N., & Laskowitz, D. T. (2010) · Neuromethods · doi:10.1007/978-1-60761-898-0_28

Autonomous and motor disorders

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FTLD/ALS-linked TDP-43 mutations do not alter TDP-43’s ability to self-regulate its expression in Drosophila

Miguel, L., Avequin, T., Pons, M., Frébourg, T., Campion, D., & Lecourtois, M. (2018) · Brain Research · doi:10.1016/j.brainres.2018.05.021

Molecular mechanism of amyotrophic lateral sclerosis (ALS) from the viewpoint of the formation and degeneration of transactive response DNA-binding protein 43 kDa (TDP-43) inclusions

Kasahara, S., Ishihara, T., Koike, Y. M., Sugai, A., & Onodera, O. (2020) · Rinsho Shinkeigaku · doi:10.5692/clinicalneurol.cn-001362

Amyotrophic Lateral Sclerosis

Sreedharan, J., & Brown, R. H. (2014) · Elsevier eBooks · doi:10.1016/b978-0-12-410529-4.00087-5

m6A RNA methylation and TARDBP, a gene implicated in amyotrophic lateral sclerosis

Quoibion, A. (2017) · doi:10.82308/31337

Toward a Personalized Approach in Amyotrophic Lateral Sclerosis: New Developments in Diagnosis, Genetics, Pathogenesis and Therapies

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Meaning of a public place: a story of Padang Pahlawan

Harun, N. Z., Mansor, M., & Said, I. (2013)

Importance of the Q/N-rich Segment for Protein Stability and Activity of Endogenous Mouse TDP-43Preprint

Sato, T., Oda, K., Sakai, S., Kato, R., Yamamori, S., Itakura, M., Kodera, Y., Nishizawa, M., Sasaoka, T., Onodera, O., et al. (2021) · Research Square · doi:10.21203/rs.3.rs-1113360/v1

Current World Literature

(2009) · Current Opinion in Neurology · doi:10.1097/wco.0b013e3283313b14

SESSION 4A TDP-43

(2008) · Amyotrophic Lateral Sclerosis · doi:10.1080/17482960802443198

Motor disorders

Gordon, D., & Talbot, K. (2014) · Cambridge University Press eBooks · doi:10.1017/cbo9781107360556.008

Models of Neurodegenerative Diseases

Maharjan, N., & Saxena, S. (2022) · Learning materials in biosciences · doi:10.1007/978-3-031-07793-7_10 · Cited by 1

An N-terminal peptide of Tar DNA binding Protein 43 lacking nuclear localization signal translocates to the nucleus of GC-1 spermatogonial cells

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Pathological Role of Copper and Cu,Zn-superoxide Dismutase (SOD1) in Amyotrophic Lateral Sclerosis (ALS)

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Molecular mechanism involved in Amyotrophic Lateral Sclerosis: role of Bcl2-A1 and TDP-43 genes in motor neuron degeneration

Mura, M. E. (2012) · UnissResearch (Università degli Studi di Sassari)

Implication des macrophages périphériques dans la Sclérose latérale Amyotrophique

Chiot, A. (2018) · theses.fr (ABES) · doi:10.70675/e3d90f5az237az4722zbff2z9c99590e826b

Étude de la composante neuroinflammatoire dans les DFT/SLA

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Analyses génétiques et fonctionnelles de nouveaux gènes incriminés dans la Sclérose Latérale Amyotrophique (SLA)

Teyssou, E. (2017) · theses.fr (ABES) · doi:10.70675/6b2c9ef9z3766z4be8z8030zea731dbce4f3

Comprendre et modéliser la Sclérose Latérale Amyotrophique à début précoce

Muratet, F. (2022) · theses.fr (ABES) · doi:10.70675/9a7778aaz88c7z40b1z92d3zaf5699b86a09

Identification des mécanismes moléculaires de neuroprotection modulés par l’activité dans deux maladies du motoneurone

Clerc, Z. (2024) · theses.fr (ABES) · doi:10.70675/ef739956z800az4550z98e8z2945d326ace4

Pathogenicity Classification of TARDBP Variants of Uncertain Significance: An Integrative Clinical Characterization and Functional Validation

Yang, C., Ma, Y., Xie, J.-L., Lou, X.-Y., Lv, Y.-T., Wu, T.-X., Xu, H., Zou, S.-M., Zs, W., & Li, H. (2026) · Cells · doi:10.3390/cells15141232

Profiling the inherent vulnerability of motor neuron subtypes

Herholz, D. (2012) · doi:10.53846/goediss-521

The clinical and pathological spectrum of TDP-43 associated ALS

Onodera, O., Yokoseki, A., Tan, C., Ishihara, T., Nishiira, Y., Toyoshima, Y., Kakita, A., Nishizawa, M., & Takahashi, H. (2010) · Rinsho Shinkeigaku · doi:10.5692/clinicalneurol.50.940

TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis

Kabashi, E., Valdmanis, P. N., Dion, P., Spiegelman, D., McConkey, B. J., Velde, C. V., Bouchard, J.-P., Lacomblez, L., Pochigaeva, K., Salachas, F., et al. (2008) · Nature Genetics · doi:10.1038/ng.132 · Cited by 1,544

TDP-43 M311V mutation in familial amyotrophic lateral sclerosis

Lemmens, R., Race, V., Hersmus, N., Matthijs, G., Bosch, L. V. D., Damme, P. V., Dubois, B., Boonen, S. E., Goris, A., & Robberecht, W. (2009) · Journal of Neurology Neurosurgery & Psychiatry · doi:10.1136/jnnp.2008.157677 · Cited by 57

Correspondence to:

Williams, K. L., Durnall, J. C., Thoeng, A., Warraich, S. T., Nicholson, G. A., Blair, I. P., Neuroscience, N., Australia, S. S., Blair, D. I. P., Laboratory, N., et al. (2009)

TARDBP (TDP‐43) sequence analysis in patients with familial and sporadic ALS: identification of two novel mutations

Bo, R. D., Ghezzi, S., Corti, S. P., Pandolfo, M., Ranieri, M., Santoro, D., Ghione, I., Prelle, A. C., Orsetti, V., Mancuso, M., et al. (2009) · European Journal of Neurology · doi:10.1111/j.1468-1331.2009.02574.x · Cited by 108