Transposable Elements in TDP-43-Mediated Neurodegenerative Disorders

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Perturbed DNA methylation by Gadd45b induces chromatin disorganization, DNA strand breaks and dopaminergic neuron death

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A behavioral screen for mediators of age-dependent TDP-43 neurodegeneration identifies SF2/SRSF1 among a group of potent suppressors in both neurons and glia

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Immune Signaling Kinases in Amyotrophic Lateral Sclerosis (ALS) and Frontotemporal Dementia (FTD)

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Shapeshifter TDP-43: Molecular mechanism of structural polymorphism, aggregation, phase separation and their modulators

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Trends in Understanding the Pathological Roles of TDP-43 and FUS Proteins

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Retrotransposon: an insight into neurological disorders from perspectives of neurodevelopment and aging

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The Caenorhabditis elegans Ortholog of TDP-43 Regulates the Chromatin Localization of the Heterochromatin Protein 1 Homolog HPL-2

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TDP-43 Epigenetic Facets and Their Neurodegenerative Implications

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Transcription and Splicing Factor TDP-43: Role in Regulation of Gene Expression in Testis

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Emerging Connections Between Tau and Nucleic Acids

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Intercellular viral spread and intracellular transposition of Drosophila gypsy

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Radiogenomics of C9orf72 Expansion Carriers Reveals Global Transposable Element Derepression and Enables Prediction of Thalamic Atrophy and Clinical Impairment

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KTN1 variants and risk for attention deficit hyperactivity disorder

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DNA strand breaks and TDP-43 mislocation are absent in the murine hSOD1G93A model of amyotrophic lateral sclerosis in vivo and in vitro

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Transposable Elements

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Unexplored power of CRISPR-Cas9 in neuroscience, a multi-OMICs review

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Nuclear translocation of the LINE-1 encoded ORF1 protein alters nuclear envelope integrity in human neurons

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L1 Retrotransposons: A Potential Endogenous Regulator for Schizophrenia

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Somatic piRNAs and Transposons are Differentially Expressed Coincident with Skeletal Muscle Atrophy and Programmed Cell Death

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CLIP and complementary methods

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Navigating the brain and aging: exploring the impact of transposable elements from health to disease

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Peroxisome Proliferator Activated Receptor Agonists Modulate Transposable Element Expression in Brain and Liver

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Towards an integrated approach for understanding glia in Amyotrophic Lateral Sclerosis

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Characterisation of retrotransposon insertion polymorphisms in whole genome sequencing data from individuals with amyotrophic lateral sclerosis

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Transposable Elements: Emerging Therapeutic Targets in Neurodegenerative Diseases

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Locus-specific analysis of Transposable Elements during the progression of ALS in the SOD1G93A mouse model

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Retrotransposition-competent L1s are increased in the genomes of individuals with amyotrophic lateral sclerosis

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Locus specific reduction of L1 expression in the cortices of individuals with amyotrophic lateral sclerosis

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Nuclear Import Defects Drive Cell Cycle Dysregulation in Neurodegeneration

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New Insights into Endogenous Retrovirus-K Transcripts in Amyotrophic Lateral Sclerosis

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An AluYb8 retrotransposon characterises a risk haplotype of TMEM106B associated in neurodegenerationPreprint

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Restoring functional TDP-43 oligomers in ALS and laminopathic cellular models through baicalein-induced reconfiguration of TDP-43 aggregates

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Dysregulated Expression of Transposable Elements in TDP-43M337V Human Motor Neurons That Recapitulate Amyotrophic Lateral Sclerosis In Vitro

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Single-cell transcriptomics of resected human traumatic brain injury tissues reveals acute activation of endogenous retroviruses in oligodendrogliaPreprint

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TDP-43 pathology in Drosophila induces glial-cell type specific toxicity that can be ameliorated by knock-down of SF2/SRSF1

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Genome-Encoded Cytoplasmic Double-Stranded RNAs, Found in C9ORF72 ALS-FTD Brain, Provoke Propagated Neuronal DeathPreprint

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Neural Transposition in the Drosophila Brain

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Myopathic aggregation-prone variants in the TDP-43 prion-like domain: genetics paving the way

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Transposable Elements Are Dynamically Regulated in Medium Spiny Neurons and May Contribute to the Molecular and Behavioral Adaptations to Cocaine

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Targeted RNAi screen identifies transcriptional mechanisms that prevent premature degeneration of adult photoreceptors

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Relationship of Antiviral Proteins with Retroelements in the Brain in Pathogenesis of Neurodegenerative Diseases

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Activity of Retrotransposons in Stem Cells and Differentiated Cells

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RNA-cDNA hybrids mediate transposition via different mechanisms

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Warning SINEs: Alu elements, evolution of the human brain, and the spectrum of neurological diseasePreprint

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Endogenous Retroviruses and TDP-43 Proteinopathy Form a Sustaining Feedback to Drive the Intercellular Spread of NeurodegenerationPreprint

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LINE1 RNA dysregulation impairs chromatin accessibility in C9ORF72- and TDP-43-linked ALS/FTDPreprint

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Stress, Transposons, and the Brain Epigenome

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ALSUntangled 45: Antiretrovirals

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Frontotemporal lobar degeneration

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The Ribosomal Protein RpL22 Interacts In Vitro with 5′-UTR Sequences Found in Some Drosophila melanogaster Transposons

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LINE-1 replication in a mouse TDP-43 model of neurodegeneration marks motor cortex neurons for cell-intrinsic and non-cell autonomous programmed cell deathPreprint

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Lamivudine modulates the expression of neurological impairment-related genes and LINE-1 retrotransposons in brain tissues of a Down syndrome mouse model

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Using Cloning to Amplify Neuronal Genomes for Whole-Genome Sequencing and Comprehensive Mutation Detection and Validation

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Epigenetics and genotypic variation

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Role of Retroelements in Frontotemporal Dementia Development

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The Contribution of Rare Allele and Junk Genome in AMD Pathogenesis

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Transposable element landscape changes are buffered by RNA silencing in aging DrosophilaPreprint

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Reversal of Disease Phenotypes in ALS and Genetic Premature Aging Cells by Redirecting Misfolded TDP-43 Proteins into Physiological TDP-43 OligomersPreprint

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The retroelement-derived human protein PEG10 is a regulator of mRNA splicing in neuronsPreprint

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Endogenous TDP-43 prevents retrotransposons activation through Dicer-2 activity and the RNA silencing machinery in Drosophila neuronsPreprint

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Improved Structural Variation Detection Facilitates the Discovery of Somatic Mutations in Single Post-Mitotic Neurons

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Characterizing the physicochemical properties of TDP-43 protein and Acetylated Amyloid β peptides to discern its role in neurodegenerative diseases

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Somatic piRNAs and Transposons are Differentially Regulated During Skeletal Muscle Atrophy and Programmed Cell DeathPreprint

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It's JustiFlied: The Endogenous Retrovirus K Integrase Induces Motor Disturbances in Transgenic Drosophila

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Nuclear translocation of LINE-1 encoded ORF1p alters nuclear envelope integrity and disrupts nucleocytoplasmic transport in human neuronsPreprint

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Transposable Elements and Human Diseases

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Transposable element small and long RNAs in aging brains and implications in Huntington’s and Parkinson’s diseasePreprint

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ВЛИЯНИЕ РЕТРОЭЛЕМЕНТОВ НА ВЗАИМОСВЯЗЬ СТАРЕНИЯ С НЕЙРОДЕГЕНЕРАТИВНЫМИ ЗАБОЛЕВАНИЯМИ

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Relationship between epigenetic factors and retrotransposons and the etiopathogenesis of neurodegenerative diseases

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Additional file 1 of TDP-43 prevents retrotransposon activation in the Drosophila motor system through regulation of Dicer-2 activity

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Additional file 6 of TDP-43 prevents retrotransposon activation in the Drosophila motor system through regulation of Dicer-2 activity

Romano, G., Klima, R., & Feiguin, F. M. (2020) · Figshare · doi:10.6084/m9.figshare.12610214

Additional file 3 of TDP-43 prevents retrotransposon activation in the Drosophila motor system through regulation of Dicer-2 activity

Romano, G., Klima, R., & Feiguin, F. M. (2020) · Figshare · doi:10.6084/m9.figshare.12610205

Additional file 1 of Frequency and methylation status of selected retrotransposition competent L1 loci in amyotrophic lateral sclerosis

Savage, A. L., Lopez, A. I., Iacoangeli, A., Bubb, V. J., Smith, B. N., Troakes, C., Alahmady, N., Koks, S., Schumann, G. G., Al‐Chalabi, A., et al. (2020) · Figshare · doi:10.6084/m9.figshare.13237698

Additional file 2 of TDP-43 prevents retrotransposon activation in the Drosophila motor system through regulation of Dicer-2 activity

Romano, G., Klima, R., & Feiguin, F. M. (2020) · Figshare · doi:10.6084/m9.figshare.12610202

Additional file 5 of TDP-43 prevents retrotransposon activation in the Drosophila motor system through regulation of Dicer-2 activity

Romano, G., Klima, R., & Feiguin, F. M. (2020) · Figshare · doi:10.6084/m9.figshare.12610211

Additional file 4 of TDP-43 prevents retrotransposon activation in the Drosophila motor system through regulation of Dicer-2 activity

Romano, G., Klima, R., & Feiguin, F. M. (2020) · Figshare · doi:10.6084/m9.figshare.12610208

Additional file 3 of Locus specific reduction of L1 expression in the cortices of individuals with amyotrophic lateral sclerosis

Pfaff, A. L., Bubb, V. J., Quinn, J. P., & Koks, S. (2022) · Figshare · doi:10.6084/m9.figshare.19445494

Transposable element small RNAs and large RNAs in aging brains and implications in Huntington's and Parkinson's diseasePreprint

Dayama, G., Lee, J.-H. R., Gupta, S., Brion, C., Connizzo, B. K., Labadorf, A. T., Myers, R. H., & Lau, N. C. (2026) · Genome Research · doi:10.1101/gr.280565.125

LINE-1 Retrotransposons and Amyotrophic Lateral Sclerosis

Korošec, T., Rogelj, B., & Župunski, V. (2026) · International Journal of Molecular Sciences · doi:10.3390/ijms27146244

Epigenetic control of transposable elements in brain and brain disorders

Smith, C. A., & Hamilton, P. J. (2026) · Epigenetics · doi:10.1080/15592294.2026.2732514

Early life social isolation primes flies for more rapid TDP-43 dependent neurodegeneration later in lifePreprint

Murthygowda, S., Huyghue, K., Castillo, B., Gugala, F., Li, W., & Dubnau, J. (2026) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.64898/2026.09.23.753732

The therapeutic potential of transposable element activity modulation

Morelli, G., D’Onghia, M., Mangiavacchi, A., & Orlando, V. (2026) · EMBO Molecular Medicine · doi:10.1038/s44321-026-00528-z

Viral-retroelement association in amyotrophic lateral sclerosis as a basis for targeted therapy: an exploratory review

Mustafin, R. N. (2026) · I P Pavlov Russian Medical Biological Herald · doi:10.17816/pavlovj634859

Dysregulated Expression of Transposable Elements in TDP-43M337V Human Motor Neurons That Recapitulate Amyotrophic Lateral Sclerosis In Vitro

Valdebenito‐Maturana, B., Rojas-Tapia, M. I., Carrasco, M. A., & Tapia, J. C. (2022) · International Journal of Molecular Sciences · doi:10.3390/ijms232416222 · Cited by 8

Repetitive elements in aging and neurodegeneration

Copley, K. E., & Shorter, J. (2023) · Trends in Genetics · doi:10.1016/j.tig.2023.02.008 · Cited by 70

The Other Side of the Same Coin: Beyond the Coding Region in Amyotrophic Lateral Sclerosis

Ruffo, P., Perrone, B., Perrone, F., Amicis, F. D., Iuliano, R., Bucci, C., Messina, A. A., & Conforti, F. L. (2025) · Pharmaceuticals · doi:10.3390/ph18101573 · Cited by 2

Retrotransposon activation contributes to neurodegeneration in a Drosophila TDP-43 model of ALS

Krug, L., Chatterjee, N., Borges-Monroy, R., Hearn, S., Liao, W.-W., Morrill, K., Prazak, L., Rozhkov, N., Theodorou, D., Hammell, M., et al. (2017) · PLOS Genetics · doi:10.1371/journal.pgen.1006635 · Cited by 201

Transposable elements as new players in neurodegenerative diseases

Ravel‐Godreuil, C., Znaidi, R., Bonnifet, T., Joshi, R. L., & Fuchs, J. (2021) · FEBS Letters · doi:10.1002/1873-3468.14205 · Cited by 77