Repetitive elements in aging and neurodegeneration

Initial sequencing and analysis of the human genome

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Initial sequencing and comparative analysis of the mouse genome

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

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Expanded GGGGCC Hexanucleotide Repeat in Noncoding Region of C9ORF72 Causes Chromosome 9p-Linked FTD and ALS

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Alzheimer’s disease

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Selfish DNA: the ultimate parasite

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Longitudinal analysis reveals high prevalence of Epstein-Barr virus associated with multiple sclerosis

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Parkinson's Disease

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Cytosine methylation and the ecology of intragenomic parasites

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Amyotrophic Lateral Sclerosis

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The origin and behavior of mutable loci in maize

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Huntington disease

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Multiple sclerosis

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Clinical and Pathological Diagnosis of Frontotemporal Dementia

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Dicer-deficient mouse embryonic stem cells are defective in differentiation and centromeric silencingPreprint

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L1 drives IFN in senescent cells and promotes age-associated inflammation

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Role of transposable elements in heterochromatin and epigenetic control

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Reverse transcription of R2Bm RNA is primed by a nick at the chromosomal target site: a mechanism for non-LTR retrotransposition

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Human L1 retrotransposon encodes a conserved endonuclease required for retrotransposition

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MIWI2 Is Essential for Spermatogenesis and Repression of Transposons in the Mouse Male Germline

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Endogenous siRNAs from naturally formed dsRNAs regulate transcripts in mouse oocytes

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Hot L1s account for the bulk of retrotransposition in the human population

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Developmentally Regulated piRNA Clusters Implicate MILI in Transposon Control

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LINE-mediated retrotransposition of marked Alu sequences

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Epigenetic mechanisms of longevity and aging

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Somatic mosaicism in neuronal precursor cells mediated by L1 retrotransposition

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Haemophilia A resulting from de novo insertion of L1 sequences represents a novel mechanism for mutation in man

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Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature

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RNA phase transitions in repeat expansion disorders

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KAP1 controls endogenous retroviruses in embryonic stem cells

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The regulated retrotransposon transcriptome of mammalian cells

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L1 retrotransposition in human neural progenitor cells

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Double-stranded RNA-mediated silencing of genomic tandem repeats and transposable elements in the D. melanogaster germline

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Mutant nuclear lamin A leads to progressive alterations of epigenetic control in premature aging

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Reverse Transcriptase Encoded by a Human Transposable Element

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Neurodegenerative disease: models, mechanisms, and a new hope

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Transposable Elements Are Major Contributors to the Origin, Diversification, and Regulation of Vertebrate Long Noncoding RNAs

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A human centromere antigen (CENP-B) interacts with a short specific sequence in alphoid DNA, a human centromeric satellite.

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Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response

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Somatic retrotransposition alters the genetic landscape of the human brain

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The profile of repeat‐associated histone lysine methylation states in the mouse epigenome

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Transcriptional Silencing of Transposons by Piwi and Maelstrom and Its Impact on Chromatin State and Gene Expression

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Endogenous siRNAs Derived from Transposons and mRNAs in <i>Drosophila</i> Somatic Cells

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LINE-1 Retrotransposition Activity in Human Genomes

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Exon Shuffling by L1 Retrotransposition

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L1 retrotransposition in neurons is modulated by MeCP2

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KRAB zinc-finger proteins contribute to the evolution of gene regulatory networks

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Selective vulnerability in neurodegenerative diseases

Fu, H., Hardy, J., & Duff, K. E. (2018) · Nature Neuroscience · doi:10.1038/s41593-018-0221-2 · Cited by 585 · see citing works

Single-Neuron Sequencing Analysis of L1 Retrotransposition and Somatic Mutation in the Human Brain

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Aberrant Overexpression of Satellite Repeats in Pancreatic and Other Epithelial Cancers

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Human ADAR1 Prevents Endogenous RNA from Triggering Translational Shutdown

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Transposable elements reveal a stem cell-specific class of long noncoding RNAs

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Genomic 5-methyldeoxycytidine decreases with age.

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Tau promotes neurodegeneration through global chromatin relaxation

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The Human LINE-1 Retrotransposon Creates DNA Double-strand Breaks

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Hierarchical order in chromosome-specific human alpha satellite DNA

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An evolutionary arms race between KRAB zinc-finger genes ZNF91/93 and SVA/L1 retrotransposons

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Genomic and Genetic Definition of a Functional Human Centromere

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LINE1 Derepression in aged wild-type and SIRT6-deficient mice drives inflammation

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DNA repair mediated by endonuclease-independent LINE-1 retrotransposition

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BRCA1 tumour suppression occurs via heterochromatin-mediated silencing

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Molecular identification of a novel retrovirus repeatedly isolated from patients with multiple sclerosis

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Transcriptional disruption by the L1 retrotransposon and implications for mammalian transcriptomes

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Human endogenous retrovirus-K contributes to motor neuron disease

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Human L1 Retrotransposition Is Associated with Genetic Instability In Vivo

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Genomic Deletions Created upon LINE-1 Retrotransposition

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Genomes of replicatively senescent cells undergo global epigenetic changes leading to gene silencing and activation of transposable elements

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The role of retrotransposable elements in ageing and age-associated diseases

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Breaching Self-Tolerance to Alu Duplex RNA Underlies MDA5-Mediated Inflammation

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Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study

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L1 retrotransposition is suppressed by endogenously encoded small interfering RNAs in human cultured cells

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Human endogenous retrovirus glycoprotein–mediated induction of redox reactants causes oligodendrocyte death and demyelination

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ATM and ataxia telangiectasia

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Transposable elements become active and mobile in the genomes of aging mammalian somatic tissues

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Activation of transposable elements during aging and neuronal decline in Drosophila

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Nucleation of nuclear bodies by RNA

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Modeling of TREX1-dependent autoimmune disease using human stem cells highlights L1 accumulation as a source of neuroinflammation

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

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The evolutionary history of human DNA transposons: Evidence for intense activity in the primate lineagePreprint

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Pathogenic tau-induced piRNA depletion promotes neuronal death through transposable element dysregulation in neurodegenerative tauopathies

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Tau Activates Transposable Elements in Alzheimer’s Disease

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Stress-induced transcription of satellite III repeats

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Identification of active loci of a human endogenous retrovirus in neurons of patients with amyotrophic lateral sclerosis

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Identification of an infectious progenitor for the multiple-copy HERV-K human endogenous retroelements

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Motor neuron disease-associated loss of nuclear TDP-43 is linked to DNA double-strand break repair defects

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m6A RNA methylation regulates the fate of endogenous retroviruses

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Volatile evolution of long noncoding RNA repertoires: mechanisms and biological implications

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Genetic Analysis and Fine Mapping of a New Rice Mutant, Leaf Tip Senescence 2

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Nuclear Translocation of S100A9 Triggers Senescence of Human Amnion Fibroblasts by De‐Repressing LINE1 Via Heterochromatin Erosion at Parturition

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Cell-Type-Specific Transposable Element Demethylation and TAD Remodeling in the Aging Mouse BrainPreprint

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The Effect of Giving Aloe Vera Gel on Collagen Growth in Wistar Rats (Rattus Norvegicus) with Exposure to Ultra Violet-B Light

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Ribosomal, Satellite III (1q12) and Telomere Repeat Copy Number Variations in Cystic Fibrosis Patients Used as a Model of Permanent Stress and SurvivabilityPreprint

Ershova, E. S., Kondratyeva, E., Porokhovnik, L. N., Voronkova, A. Y., Melyanovskaya, Y. L., Krasovsky, S. A., Veiko, R. V., Zhekaite, E. K., Starinova, M., Вейко, Н. Н., et al. (2024) · medRxiv · doi:10.1101/2024.04.21.24306126

Single cell whole-genome sequencing of brain cells: age- and cell-type specific mutational profiles

Capasso, M., & Aziz, N. A. (2024) · Signal Transduction and Targeted Therapy · doi:10.1038/s41392-024-01892-3

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

Dayama, G., Gupta, S., Connizzo, B. K., Labadorf, A. T., Myers, R. H., & Lau, N. C. (2024) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2024.10.22.619758

Exploring the role of transposable elements to sex gap in longevity in Drosophila speciesPreprint

Merenciano, M., Janillon, S., Mermet‐Bouvier, C., Burlet, N., Rodriguez-Rada, V., Ronget, V., Gibert, P., Gaillard, J., Lemaître, J., Marais, G. A. B., et al. (2025) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2025.01.22.634250

FULL-LENGTH HYBRID TRANSCRIPTOME OF THE OLFACTORY ROSETTE IN SENEGALESE SOLE ( Solea senegalensis ): AN ESSENTIAL GENOMIC RESOURCE TO IMPROVE REPRODUCTION AT FARMSPreprint

Torres, D., Blanco, A., Villamayor, P. R., Rasines, I., Martín, I., Bouza, C., Robledo, D., & Martı́nez, P. (2025) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2025.03.19.644159

Role of Polyadenylation in mRNA Genome Integration via LINE-1 Retrotransposons: An Opinion on mRNA Vaccine Safety

Feliciello, I. (2025) · Frontiers in Bioscience-Scholar · doi:10.31083/fbs26335

RNase H1 counteracts DNA damage and ameliorates SMN-dependent phenotypes in a Drosophila model of Spinal Muscular AtrophyPreprint

Scatolini, L., Graziadio, L., Guerrini, D., Maccallini, P., Marino, C., di Vito, R., Hassan, A., Grimaldi, M., Fidaleo, M., Dehghannasiri, R., et al. (2025) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2025.04.17.649348

piRNAs in neurodegenerative diseases: Mechanisms of pathogenesis and therapeutic potential

Barreto, J. S. R., Aguirre-Patiño, J. S., Moncada, L. T. P., & Alvear, R. F. V. (2025) · Acta neurológica colombiana · doi:10.22379/anc.v41i2.1918 · Cited by 1 · see citing works

Emerging Functions of the Repeat Genome in Nuclear Structure: A View from the Human Karyotype

Hall, L. L., Smith, K. P., & Lawrence, J. B. (2025) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev-genom-111522-014017

Steady-state neuron-predominant LINE-1 encoded ORF1p protein and LINE-1 RNA increase with aging in the mouse and human brainPreprint

Bonnifet, T., Sinnassamy, S., Massiani-Beaudoin, O., Mailly, P., Monnet, H., Loew, D., Lombard, B., Servant, N., Joshi, R. L., & Fuchs, J. (2025) · eLife · doi:10.7554/elife.100687.2

Ageing versus developmental silencing: Answers from the epigenome

Sadler, K. C., Storer, M. A., & Bayin, N. S. (2025) · FEBS Journal · doi:10.1111/febs.70221

Steady-state neuron-predominant LINE-1 encoded ORF1p protein and LINE-1 RNA increase with aging in the mouse and human brainPreprint

Bonnifet, T., Sinnassamy, S., Massiani-Beaudoin, O., Mailly, P., Monnet, H., Loew, D., Lombard, B., Servant, N., Joshi, R. L., & Fuchs, J. (2025) · eLife · doi:10.7554/elife.100687.3

p53motifDB: integration of genomic information and tumour suppressor p53 binding motifs

Baniulyte, G., Hicks, S. M., & Sammons, M. A. (2025) · Database · doi:10.1093/database/baaf053

Transposable Elements as Drivers of Age-Related Neurodegenerative Disease

Scopa, C., Muench, M., & Trotti, D. (2025) · Epigenetics and human health · doi:10.1007/978-3-032-04125-8_11

Implications of virus-induced stress granules in tauopathies

Sharma, S., Vandenakker, A., Cortes-Pérez, C. M., Milne, S., & Douville, R. N. (2026) · Translational Neurodegeneration · doi:10.1186/s40035-026-00538-4

Contribution of neuroepigenetics to HD – developmental and aging-related signatures

Scuto, J., Penaud, N., & Mérienne, K. (2026) · Journal of Huntington s Disease · doi:10.1177/18796397261426625

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

Distinct Transposable Element Transcript Patterns in Microglia Across Aging and Alzheimer's Disease

Grant, R. A., Doser, R. L., & LaRocca, T. J. (2026) · Aging Cell · doi:10.1111/acel.70653

A single-cell meta-analysis evidences transposable element dysregulation in sex-based differences in Parkinson's disease

Gordillo, F., Galiana‐Roselló, C., Grillo-Risco, R., Soler-Sáez, I., Hidalgo, M. R., Siomi, H., Kobayashi‐Ishihara, M., & García-García, F. (2026) · Neurobiology of Disease · doi:10.1016/j.nbd.2026.107580

Aging and Reproductive Cancers: An Integrative View on Cell-Free DNA and Transposable Elements

Cecati, M., Vaiasicca, S., Cianfruglia, L., Fumarola, S., Campagna, R., Marchegiani, F., & Cardelli, M. (2026) · Frontiers in Bioscience-Landmark · doi:10.31083/fbl50970

RNA dysregulation as a determinant of aging and neurodegenerative vulnerability

Randles, S., & Yeo, G. W.-M. (2026) · Trends in Cell Biology · doi:10.1016/j.tcb.2026.08.008

The TyrRS cascade: circadian gating of neuronal DNA repair and its collapse in aging

Sajish, M., Seiden, D., Ingram, D. K., & Smith, W. K. (2026) · GeroScience · doi:10.1007/s11357-026-02532-0

The “mobile bricks” of human evolution: how transposable elements shaped human phenotypes

Modenini, G., & Abondio, P. (2026) · Frontiers in Genetics · doi:10.3389/fgene.2026.1937765

The FOXO-aging axis: Epigenetic insights and chromatin mechanisms

Fang, T., Ke, R., Ming, H., Ye, S., He, D., Chen, T., & Wu, Y. (2026) · Ageing Research Reviews · doi:10.1016/j.arr.2026.103421

Transposable Elements in TDP-43-Mediated Neurodegenerative Disorders

Li, W., Jin, Y., Prazak, L., Hammell, M., & Dubnau, J. (2012) · PLoS ONE · doi:10.1371/journal.pone.0044099 · Cited by 195 · see citing works

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 67 · see citing works

Retrotransposons as a Source of DNA Damage in Neurodegeneration

Pezé-Heidsieck, E., Bonnifet, T., Znaidi, R., Ravel‐Godreuil, C., Massiani-Beaudoin, O., Joshi, R. L., & Fuchs, J. (2022) · Frontiers in Aging Neuroscience · doi:10.3389/fnagi.2021.786897 · Cited by 49 · see citing works

Transposable Elements as Drivers of Age-Related Neurodegenerative Disease

Scopa, C., Muench, M., & Trotti, D. (2025) · Epigenetics and human health · doi:10.1007/978-3-032-04125-8_11

Transposable Elements: Emerging Therapeutic Targets in Neurodegenerative Diseases

Singh, S., Borkar, M. R., & Bhatt, L. K. (2024) · Neurotoxicity Research · doi:10.1007/s12640-024-00688-1 · Cited by 9 · see citing works