Long pre-mRNA depletion and RNA missplicing contribute to neuronal vulnerability from loss of TDP-43

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Identification of a subnuclear body involved in sequence-specific cytokine RNA processing

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Robustness and Vulnerability of the Autoregulatory System That Maintains Nuclear TDP-43 Levels: A Trade-off Hypothesis for ALS Pathology Based on in Silico Data

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The Retrotransposon storm and the dangers of a Collyer's genome

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Postmortem Cortex Samples Identify Distinct Molecular Subtypes of ALS: Retrotransposon Activation, Oxidative Stress, and Activated GliaPreprint

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TDP-43 nuclear loss in FTD/ALS causes widespread alternative polyadenylation changesPreprint

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Potential Mechanisms of Progranulin-deficient FTLD

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Dysregulated axonal RNA translation in amyotrophic lateral sclerosis

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Linking amyotrophic lateral sclerosis and spinal muscular atrophy through RNA ‐transcriptome homeostasis: a genomics perspective

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FUS toxicity is rescued by the modulation of lncRNA hsrω expression in Drosophila melanogaster

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Molecular Pathways Involved in Frontotemporal Lobar Degeneration with TDP-43 Proteinopathy: What Can We Learn from Proteomics?

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Updates on Disease Mechanisms and Therapeutics for Amyotrophic Lateral Sclerosis

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C9ORF72 hexanucleotide repeats in behavioral and motor neuron disease: clinical heterogeneity and pathological diversity.

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Disease-Associated Mutations of TDP-43 Promote Turnover of the Protein Through the Proteasomal Pathway

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Transcriptomic Analysis of Zebrafish TDP-43 Transgenic Lines

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Motor neuron translatome reveals deregulation of SYNGR4 and PLEKHB1 in mutant TDP-43 amyotrophic lateral sclerosis models

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Remodeling without destruction: non-proteolytic ubiquitin chains in neural function and brain disorders

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Gene Expression Signatures of Sporadic ALS Motor Neuron PopulationsPreprint

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TDP-43 chronic deficiency leads to dysregulation of transposable elements and gene expression by affecting R-loop and 5hmC crosstalk

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Betz cells of the primary motor cortex

Nolan, M., Scott, C., Hof, P. R., & Ansorge, O. (2024) · The Journal of Comparative Neurology · doi:10.1002/cne.25567 · Cited by 27

Endothelial TDP-43 controls sprouting angiogenesis and vascular barrier integrity, and its deletion triggers neuroinflammation

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Co-Aggregation of TDP-43 with Other Pathogenic Proteins and Their Co-Pathologies in Neurodegenerative Diseases

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Overexpression of heat shock factor 1 maintains TAR DNA binding protein 43 solubility via induction of inducible heat shock protein 70 in cultured cells

Lin, P., Folorunso, O. O., Taglialatela, G., & Pierce, A. P. (2016) · Journal of Neuroscience Research · doi:10.1002/jnr.23725 · Cited by 23

The Molecular Link Between TDP-43, Endogenous Retroviruses and Inflammatory Neurodegeneration in Amyotrophic Lateral Sclerosis: a Potential Target for Triumeq, an Antiretroviral Therapy

Fowler, M., Theunissen, F., Carr, J. M., & Rogers, M. (2023) · Molecular Neurobiology · doi:10.1007/s12035-023-03472-y · Cited by 23

A panel of TDP-43-regulated splicing events verifies loss of TDP-43 function in amyotrophic lateral sclerosis brain tissue

Cao, M. C., Ryan, B., Wu, J., Curtis, M. A., Faull, R. L. M., Dragunow, M., & Scotter, E. L. (2023) · Neurobiology of Disease · doi:10.1016/j.nbd.2023.106245 · Cited by 23

Toward precision medicine in amyotrophic lateral sclerosis.

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Preferential binding of a stable G3 BP ribonucleoprotein complex to intron‐retaining transcripts in mouse brain and modulation of their expression in the cerebellum

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Structural Transition, Function and Dysfunction of TDP-43 in Neurodegenerative Diseases

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The Potential Contribution of Dysfunctional RNA-Binding Proteins to the Pathogenesis of Neurodegeneration in Multiple Sclerosis and Relevant Models

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Transcription Blockage by DNA Damage in Nucleotide Excision Repair-Related Neurological Dysfunctions

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ALS-linked TDP-43 mutations interfere with the recruitment of RNA recognition motifs to G-quadruplex RNA

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Mechanisms of TDP-43 Proteinopathy Onset and Propagation

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Genetic architecture of motor neuron diseases

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Transcriptional targets of amyotrophic lateral sclerosis/frontotemporal dementia protein TDP-43 – meta-analysis and interactive graphical database

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DEEPStack-RBP: Accurate identification of RNA-binding proteins based on autoencoder feature selection and deep stacking ensemble classifier

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RNA-mediated ribonucleoprotein assembly controls TDP-43 nuclear retention

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From single splicing events to thousands: the ambiguous step forward in splicing research

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Genetic dissection of a cell-autonomous neurodegenerative disorder: lessons learned from mouse models of Niemann-Pick disease type C

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RNA Dysregulation in Diseases of Motor Neurons

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FUS-mediated dysregulation of Sema5a, an autism-related gene, in FUS mice with hippocampus-dependent cognitive deficits

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TDP-43 maximizes nerve conduction velocity by repressing a cryptic exon for paranodal junction assembly in Schwann cells

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Defining RNA oligonucleotides that reverse deleterious phase transitions of RNA-binding proteins with prion-like domains

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Sigma-1 Receptor in Motoneuron Disease

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TDP-43 and Limbic-Predominant Age-Related TDP-43 Encephalopathy

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Genetic factors for survival in amyotrophic lateral sclerosis: an integrated approach combining a systematic review, pairwise and network meta-analysis

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The role of RNA-binding and ribosomal proteins as specific RNA translation regulators in cellular differentiation and carcinogenesis

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Opposing roles of p38α-mediated phosphorylation and PRMT1-mediated arginine methylation in driving TDP-43 proteinopathy

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Sporadic ALS induced pluripotent stem cell derived neurons reveal hallmarks of TDP-43 loss of function

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Multi-phaseted problems of TDP-43 in selective neuronal vulnerability in ALS

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TDP43 ribonucleoprotein granules: physiologic function to pathologic aggregates

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Proteostasis impairment and ALS

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Aberrant NOVA1 function disrupts alternative splicing in early stages of amyotrophic lateral sclerosis

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Neuropathology and neuroanatomy of TDP-43 amyotrophic lateral sclerosis

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Folliculin, a tumor suppressor associated with Birt–Hogg–Dubé (BHD) syndrome, is a novel modifier of TDP-43 cytoplasmic translocation and aggregation

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The Pathological Phenotypes of Human TDP-43 Transgenic Mouse Models Are Independent of Downregulation of Mouse Tdp-43

Xu, Y.-F., Prudencio, M., Hubbard, J., Tong, J., Whitelaw, E. C., Jansen‐West, K. R., Stetler, C. T., Cao, X., Song, J. I., & Zhang, Y. (2013) · PLoS ONE · doi:10.1371/journal.pone.0069864 · Cited by 20

Protein Misdirection Inside and Outside Motor Neurons in Amyotrophic Lateral Sclerosis (ALS): A Possible Clue for Therapeutic Strategies

Ido, A., Fukuyama, H., & Urushitani, M. (2011) · International Journal of Molecular Sciences · doi:10.3390/ijms12106980 · Cited by 20

Aging—RNA in development and disease

Cookson, M. (2011) · Wiley Interdisciplinary Reviews - RNA · doi:10.1002/wrna.109 · Cited by 20

ALS-linked mutant TDP-43 in oligodendrocytes induces oligodendrocyte damage and exacerbates motor dysfunction in mice

Horiuchi, M., Watanabe, S., Komine, O., Takahashi, E., Kaneko, K., Itohara, S., Shimada, M., Ogi, T., & Yamanaka, K. (2024) · Acta Neuropathologica Communications · doi:10.1186/s40478-024-01893-x · Cited by 22

Endogenous TDP-43 mislocalization in a novel knock-in mouse model reveals DNA repair impairment, inflammation, and neuronal senescence

Mitra, J., Kodavati, M. M., Dharmalingam, P., Guerrero, E. N., Rao, K. S. J., Garruto, R. M., & Hegde, M. L. (2025) · Acta Neuropathologica Communications · doi:10.1186/s40478-025-01962-9 · Cited by 19

TDP-43 Controls HIV-1 Viral Production and Virus Infectiveness

Cabrera-Rodríguez, R., Pérez-Yanes, S., Lorenzo-Sánchez, I., Estévez‐Herrera, J., García-Luis, J., Trujillo‐González, R., & Valenzuela-Fernández, A. (2023) · International Journal of Molecular Sciences · doi:10.3390/ijms24087658 · Cited by 19

Specific vulnerability of iPSC-derived motor neurons with TDP-43 gene mutation to oxidative stress

恩田, 亜., Hasegawa-Ogawa, M., Matsuno, H., Shiraishi, T., Bono, K., Hiraki, H., Kanegae, Y., Iguchi, Y., & Okano, H. J. (2023) · Molecular Brain · doi:10.1186/s13041-023-01050-w · Cited by 19

Neuronal models of TDP-43 proteinopathy display reduced axonal translation, increased oxidative stress, and defective exocytosis

Pisciottani, A., Croci, L., Lauria, F., Marullo, C., Savino, E., Ambrosi, A., Podini, P., Marchioretto, M., Casoni, F., Cremona, O., et al. (2023) · Frontiers in Cellular Neuroscience · doi:10.3389/fncel.2023.1253543 · Cited by 19

Cockayne Syndrome Linked to Elevated R-Loops Induced by Stalled RNA Polymerase II during Transcription Elongation

Zhang, X., Xu, J., Hu, J., Zhang, S., Hao, Y., Zhang, D., Qian, H., Wang, D., & Fu, X. (2024) · Nature Communications · doi:10.1038/s41467-024-50298-w · Cited by 19

Characterization of Dopaminergic System in the Striatum of Young Adult Park2−/− Knockout Rats

Gemechu, J. M., SHARMA, A. K., Yu, D., Xie, Y., Merkel, O. M., & Moszczyńska, A. (2018) · Scientific Reports · doi:10.1038/s41598-017-18526-0 · Cited by 17

Non-coding RNA in C9orf72-related amyotrophic lateral sclerosis and frontotemporal dementia: A perfect storm of dysfunction

Douglas, A. G. L. (2018) · Non-coding RNA Research · doi:10.1016/j.ncrna.2018.09.001 · Cited by 20

Neuronal TDP-43 depletion affects activity-dependent plasticity

Koza, P., Beroun, A., Konopka, A., Górkiewicz, T., Bijoch, Ł., Torres-Elguera, J. C., Bulska, E., Knapska, E., Kaczmarek, L., & Konopka, W. (2019) · Neurobiology of Disease · doi:10.1016/j.nbd.2019.104499 · Cited by 20

Antibodies to the RNA binding protein heterogeneous nuclear ribonucleoprotein A1 contribute to neuronal cell loss in an animal model of multiple sclerosis

Libner, C. D., Salapa, H. E., Hutchinson, C., Lee, S., & Levin, M. C. (2019) · The Journal of Comparative Neurology · doi:10.1002/cne.24845 · Cited by 19

Standardized phytotherapic extracts rescue anomalous locomotion and electrophysiological responses of TDP-43 Drosophila melanogaster model of ALS

Maccioni, R., Setzu, M. D., Talani, G., Solari, P., Kasture, A. S., Sučić, S., Porru, S., Muroni, P., Sanna, E., Kasture, S. B., et al. (2018) · Scientific Reports · doi:10.1038/s41598-018-34452-1 · Cited by 18

The severity of behavioural symptoms in FTD is linked to the loss of GABRQ‐expressing VENs and pyramidal neurons

Gami‐Patel, P., Scarioni, M., Bouwman, F. H., Boon, B. D. C., Swieten, J. C. V., Bank, N. B., Rozemüller, A. J. M., Smit, A. B., Pijnenburg, Y. A. L., Hoozemans, J. J. M., et al. (2022) · Neuropathology and Applied Neurobiology · doi:10.1111/nan.12798 · Cited by 17

The Role of Small Heat Shock Proteins in Protein Misfolding Associated Motoneuron Diseases

Tedesco, B., Ferrari, V., Cozzi, M., Chierichetti, M., Casarotto, E., Pramaggiore, P., Mina, F., Galbiati, M., Rusmini, P., Crippa, V., et al. (2022) · International Journal of Molecular Sciences · doi:10.3390/ijms231911759 · Cited by 21

A Nonsense Mutation in Mouse Tardbp Affects TDP43 Alternative Splicing Activity and Causes Limb-Clasping and Body Tone Defects

Ricketts, T., McGoldrick, P., Fratta, P., Oliveira, H. M. D., Kent, R., Phatak, V. M., Brandner, S., Blanco, G., Greensmith, L., Acevedo‐Arozena, A., et al. (2014) · PLoS ONE · doi:10.1371/journal.pone.0085962 · Cited by 19

Energy Homeostasis and Abnormal RNA Metabolism in Amyotrophic Lateral Sclerosis

Liu, Y., Tsai, P.-Y., & Chern, Y. (2017) · Frontiers in Cellular Neuroscience · doi:10.3389/fncel.2017.00126 · Cited by 17

Splicing factors act as genetic modulators of TDP-43 production in a new autoregulatory TDP-43 Drosophila model

Pons, M., Miguel, L., Miel, C., Avequin, T., Juge, F., Frébourg, T., Campion, D., & Lecourtois, M. (2017) · Human Molecular Genetics · doi:10.1093/hmg/ddx229 · Cited by 18

Parkin Levels Decrease in Fibroblasts With Progranulin (PGRN) Pathogenic Variants and in a Cellular Model of PGRN Deficiency

Gawęda-Walerych, K., Walerych, D., Berdyński, M., Buratti, E., & Żekanowski, C. (2021) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2021.676478 · Cited by 18

Loss of TDP-43 in male germ cells causes meiotic failure and impairs fertility in mice

Campbell, K. M., Xu, Y., Patel, C., Rayl, J. M., Zomer, H. D., Osuru, H. P., Pratt, M. F., Pramoonjago, P., Timken, M. E., Miller, L. M., et al. (2021) · Journal of Biological Chemistry · doi:10.1016/j.jbc.2021.101231 · Cited by 20

Transactive Response DNA-Binding Protein (TARDBP/TDP-43) Regulates Cell Permissivity to HIV-1 Infection by Acting on HDAC6

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Molecular mechanisms of amyotrophic lateral sclerosis as broad therapeutic targets for gene therapy applications utilizing adeno‐associated viral vectors

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