Repetitive elements in aging and neurodegeneration

Molecular subtypes of ALS are associated with differences in patient prognosis

(2023) Jarrett Eshima et al.   Nature Communications

piRNA/PIWI Protein Complex as a Potential Biomarker in Sporadic Amyotrophic Lateral Sclerosis

(2022) Rehab F. Abdelhamid et al.   MOLECULAR NEUROBIOLOGY

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

(2022) Kjetil Bjornevik et al.   SCIENCE

Taming transposable elements in vertebrates: from epigenetic silencing to domestication

(2022) Miguel Vasconcelos Almeida et al.   TRENDS IN GENETICS

LINE-1 RNA causes heterochromatin erosion and is a target for amelioration of senescent phenotypes in progeroid syndromes

(2022) Francesco Della Valle et al.   Science Translational Medicine

Mammalian genome innovation through transposon domestication

(2022) Andrew J. Modzelewski et al.   NATURE CELL BIOLOGY

LINE-1 activation in the cerebellum drives ataxia

(2022) Takehiro Takahashi et al.   NEURON

Radiogenomics ofC9orf72Expansion Carriers Reveals Global Transposable Element Derepression and Enables Prediction of Thalamic Atrophy and Clinical Impairment

(2022) Luke W. Bonham et al.   JOURNAL OF NEUROSCIENCE

TDP-43 safeguards the embryo genome from L1 retrotransposition

(2022) Ten D. Li et al.   Science Advances

p53 is a central regulator driving neurodegeneration caused by C9orf72 poly(PR)

(2021) Maya Maor-Nof et al.   CELL

Unbiased examination of genome-wide human endogenous retrovirus transcripts in MS brain lesions

(2021) Maria L Elkjaer et al.   Multiple Sclerosis Journal

m6A RNA methylation regulates the fate of endogenous retroviruses

(2021) Tomasz Chelmicki et al.   NATURE

Activation of endogenous retroviruses during brain development causes an inflammatory response

(2021) Marie E Jönsson et al.   EMBO JOURNAL

Inhibition of HERV-K (HML-2) in amyotrophic lateral sclerosis patients on antiretroviral therapy

(2021) M. Garcia-Montojo et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Combating deleterious phase transitions in neurodegenerative disease

(2021) April L. Darling et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

Phase separation of the LINE-1 ORF1 protein is mediated by the N-terminus and coiled-coil domain

(2021) Jocelyn C. Newton et al.   BIOPHYSICAL JOURNAL

(Dis)Solving the problem of aberrant protein states

(2021) Charlotte M. Fare et al.   Disease Models & Mechanisms

TDP-43 condensation properties specify its RNA-binding and regulatory repertoire

(2021) Martina Hallegger et al.   CELL

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

(2021) Vera Gorbunova et al.   NATURE

Organ-, sex- and age-dependent patterns of endogenous L1 mRNA expression at a single locus resolution

(2021) Emily C Stow et al.   NUCLEIC ACIDS RESEARCH

Retrotransposon activation by distressed mitochondria in neurons

(2020) Marius W. Baeken et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

cGAS/STING Pathway Activation Contributes to Delayed Neurodegeneration in Neonatal Hypoxia-Ischemia Rat Model: Possible Involvement of LINE-1

(2020) Marcin Gamdzyk et al.   MOLECULAR NEUROBIOLOGY

Repetitive elements as a transcriptomic marker of aging: Evidence in multiple datasets and models

(2020) Thomas J. LaRocca et al.   AGING CELL

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

(2020) Giulia Romano et al.   BMC BIOLOGY

Transposable elements in Drosophila

(2020) Vincent Mérel et al.   Mobile DNA

Adenosine-to-Inosine RNA Editing of Alu Double-Stranded (ds)RNAs Is Markedly Decreased in Multiple Sclerosis and Unedited Alu dsRNAs Are Potent Activators of Proinflammatory Transcriptional Responses

(2020) John T. Tossberg et al.   JOURNAL OF IMMUNOLOGY

Impaired NHEJ repair in amyotrophic lateral sclerosis is associated with TDP-43 mutations

(2020) Anna Konopka et al.   Molecular Neurodegeneration

Healthy Aging Interventions Reduce Repetitive Element Transcripts

(2020) Devin Wahl et al.   JOURNALS OF GERONTOLOGY SERIES A-BIOLOGICAL SCIENCES AND MEDICAL SCIENCES

Nanopore Sequencing Enables Comprehensive Transposable Element Epigenomic Profiling

(2020) Adam D. Ewing et al.   MOLECULAR CELL

HSATII RNA is induced via a noncanonical ATM-regulated DNA damage response pathway and promotes tumor cell proliferation and movement

(2020) Maciej T. Nogalski et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Quantitative analysis of human endogenous retrovirus-K transcripts in postmortem premotor cortex fails to confirm elevated expression of HERV-K RNA in amyotrophic lateral sclerosis

(2019) Jeremy A. Garson et al.   Acta Neuropathologica Communications

Heterochromatic genome instability and neurodegeneration sharing similarities with Alzheimer’s disease in old Bmi1+/− mice

(2019) Jida El Hajjar et al.   Scientific Reports

Heterochromatin anomalies and double-stranded RNA accumulation underlie C9orf72 poly(PR) toxicity

(2019) Yong-Jie Zhang et al.   SCIENCE

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

(2019) Joy Mitra et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

(2019) Marco De Cecco et al.   NATURE

Endogenous double-stranded Alu RNA elements stimulate IFN-responses in relapsing remitting multiple sclerosis

(2019) Maxwell J. Heinrich et al.   JOURNAL OF AUTOIMMUNITY

LINE1 Derepression in Aged Wild-Type and SIRT6-Deficient Mice Drives Inflammation

(2019) Matthew Simon et al.   Cell Metabolism

Somatic expression of piRNA and associated machinery in the mouse identifies short, tissue-specific piRNA

(2019) Bambarendage P.U. Perera et al.   Epigenetics

Partial inhibition of the overactivated Ku80-dependent DNA repair pathway rescues neurodegeneration in C9ORF72-ALS/FTD

(2019) Rodrigo Lopez-Gonzalez et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Aberrant expression of select piRNA-pathway genes does not reactivate piRNA silencing in cancer cells

(2019) Pavol Genzor et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Loss of Nuclear TDP-43 Is Associated with Decondensation of LINE Retrotransposons

(2019) Elaine Y. Liu et al.   Cell Reports

Cellular labeling of endogenous retrovirus replication (CLEVR) reveals de novo insertions of the gypsy retrotransposable element in cell culture and in both neurons and glial cells of aging fruit flies

(2019) Yung-Heng Chang et al.   PLOS BIOLOGY

pHERV-W envelope protein fuels microglial cell-dependent damage of myelinated axons in multiple sclerosis

(2019) David Kremer et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Activation of neuronal genes via LINE-1 elements upon global DNA demethylation in human neural progenitors

(2019) Marie E Jönsson et al.   Nature Communications

Skeletal muscle LINE-1 ORF1 mRNA is higher in older humans but decreases with endurance exercise and is negatively associated with higher physical activity

(2019) Paul A. Roberson et al.   JOURNAL OF APPLIED PHYSIOLOGY

Copy Number Variation of Human Satellite III (1q12) With Aging

(2019) Elizaveta S. Ershova et al.   Frontiers in Genetics

The Gypsy Endogenous Retrovirus Drives Non-Cell-Autonomous Propagation in a Drosophila TDP-43 Model of Neurodegeneration

(2019) Yung-Heng Chang et al.   CURRENT BIOLOGY

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

(2019) Oliver H. Tam et al.   Cell Reports

TDP-43 knockdown causes innate immune activation via protein kinase R in astrocytes

(2019) Thomas J. LaRocca et al.   NEUROBIOLOGY OF DISEASE

The epigenomic landscape of transposable elements across normal human development and anatomy

(2019) Erica C. Pehrsson et al.   Nature Communications

Human ADAR1 Prevents Endogenous RNA from Triggering Translational Shutdown

(2018) Hachung Chung et al.   CELL

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

(2018) Sadeem Ahmad et al.   CELL

Alpha satellite DNA biology: finding function in the recesses of the genome

(2018) Shannon M. McNulty et al.   CHROMOSOME RESEARCH

Engrailed homeoprotein blocks degeneration in adult dopaminergic neurons through LINE‐1 repression

(2018) François‐Xavier Blaudin de Thé et al.   EMBO JOURNAL

RNase H2, mutated in Aicardi‐Goutières syndrome, promotes LINE‐1 retrotransposition

(2018) Maria Benitez‐Guijarro et al.   EMBO JOURNAL

LINE1 contributes to autoimmunity through both RIG-I- and MDA5-mediated RNA sensing pathways

(2018) Ke Zhao et al.   JOURNAL OF AUTOIMMUNITY

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

(2018) Wenyan Sun et al.   NATURE NEUROSCIENCE

Tau Activates Transposable Elements in Alzheimer’s Disease

(2018) Caiwei Guo et al.   Cell Reports

A Possible Role for Long Interspersed Nuclear Elements-1 (LINE-1) in Huntington’s Disease Progression

(2018) Huiping Tan et al.   MEDICAL SCIENCE MONITOR

The SAMHD1-mediated block of LINE-1 retroelements is regulated by phosphorylation

(2018) Alexandra Herrmann et al.   Mobile DNA

Genome-wide hypomethylation of LINE-1 and Alu retroelements in cell-free DNA of blood is an epigenetic biomarker of human aging

(2018) Lars Erichsen et al.   SAUDI JOURNAL OF BIOLOGICAL SCIENCES

KAP1 regulates endogenous retroviruses in adult human cells and contributes to innate immune control

(2018) Christopher HC Tie et al.   EMBO REPORTS

Transcriptional profiling of HERV-K(HML-2) in amyotrophic lateral sclerosis and potential implications for expression of HML-2 proteins

(2018) Jens Mayer et al.   Molecular Neurodegeneration

Selective vulnerability in neurodegenerative diseases

(2018) Hongjun Fu et al.   NATURE NEUROSCIENCE

Reverse-Transcriptase Inhibitors in the Aicardi–Goutières Syndrome

(2018) Gillian I. Rice et al.   NEW ENGLAND JOURNAL OF MEDICINE

Aberrant activation of non-coding RNA targets of transcriptional elongation complexes contributes to TDP-43 toxicity

(2018) Chia-Yu Chung et al.   Nature Communications

Properties of LINE-1 proteins and repeat element expression in the context of amyotrophic lateral sclerosis

(2018) Gavin C. Pereira et al.   Mobile DNA

Multiple sclerosis

(2018) Massimo Filippi et al.   Nature Reviews Disease Primers

Repetitive element transcripts are elevated in the brain of C9orf72 ALS/FTLD patients

(2017) Mercedes Prudencio et al.   HUMAN MOLECULAR GENETICS

Lack of Trex1 Causes Systemic Autoimmunity despite the Presence of Antiretroviral Drugs

(2017) Martin Achleitner et al.   JOURNAL OF IMMUNOLOGY

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

(2017) Michaël Imbeault et al.   NATURE

RNA phase transitions in repeat expansion disorders

(2017) Ankur Jain et al.   NATURE

Transcriptome-wide piRNA profiling in human brains of Alzheimer's disease

(2017) Wenying Qiu et al.   NEUROBIOLOGY OF AGING

Aicardi–Goutières syndrome protein TREX1 suppresses L1 and maintains genome integrity through exonuclease-independent ORF1p depletion

(2017) Peng Li et al.   NUCLEIC ACIDS RESEARCH

Nucleolus association of chromosomal domains is largely maintained in cellular senescence despite massive nuclear reorganisation

(2017) Stefan Dillinger et al.   PLoS One

Structural variants caused byAluinsertions are associated with risks for many human diseases

(2017) Lindsay M. Payer et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

AIM2-Like Receptors Positively and Negatively Regulate the Interferon Response Induced by Cytosolic DNA

(2017) Yuki Nakaya et al.   mBio

Demethylated HSATII DNA and HSATII RNA Foci Sequester PRC1 and MeCP2 into Cancer-Specific Nuclear Bodies

(2017) Lisa L. Hall et al.   Cell Reports

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

(2017) Lisa Krug et al.   PLoS Genetics

Detection of the LINE-1 retrotransposon RNA-binding protein ORF1p in different anatomical regions of the human brain

(2017) Debpali Sur et al.   Mobile DNA

Epigenetic Mechanisms of Longevity and Aging

(2016) Payel Sen et al.   CELL

Engineered LINE-1 retrotransposition in nondividing human neurons

(2016) Angela Macia et al.   GENOME RESEARCH

NF-κB and IRF1 Induce Endogenous Retrovirus K Expression via Interferon-Stimulated Response Elements in Its 5′ Long Terminal Repeat

(2016) Mamneet Manghera et al.   JOURNAL OF VIROLOGY

SIRT6 deacetylates H3K18ac at pericentric chromatin to prevent mitotic errors and cellular senescence

(2016) Luisa Tasselli et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

HIV-associated motor neuron disease

(2016) Lauren N. Bowen et al.   NEUROLOGY

ADAR1 restricts LINE-1 retrotransposition

(2016) Elisa Orecchini et al.   NUCLEIC ACIDS RESEARCH

Chromatin-modifying genetic interventions suppress age-associated transposable element activation and extend life span inDrosophila

(2016) Jason G. Wood et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Discovery of unfixed endogenous retrovirus insertions in diverse human populations

(2016) Julia Halo Wildschutte et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

SIRT6 deacetylates H3K18ac at pericentric chromatin to prevent mitotic errors and cellular senescence

(2016) Luisa Tasselli et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Comparative Analysis of Satellite DNA in the Drosophila melanogaster Species Complex

(2016) Madhav Jagannathan et al.   G3-Genes Genomes Genetics

Activation of individual L1 retrotransposon instances is restricted to cell-type dependent permissive loci

(2016) Claude Philippe et al.   eLife

Human endogenous retrovirus W in brain lesions: Rationale for targeted therapy in multiple sclerosis

(2016) Jack van Horssen et al.   Multiple Sclerosis and Related Disorders

Upregulated LINE-1 Activity in the Fanconi Anemia Cancer Susceptibility Syndrome Leads to Spontaneous Pro-inflammatory Cytokine Production

(2016) Christelle Brégnard et al.   EBioMedicine

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

(2016) Marco De Cecco et al.   Aging-US

Satellite non-coding RNAs: the emerging players in cells, cellular pathways and cancer

(2015) Daniela Ferreira et al.   CHROMOSOME RESEARCH

Human endogenous retrovirus-K contributes to motor neuron disease

(2015) Wenxue Li et al.   Science Translational Medicine

Huntington disease

(2015) Gillian P. Bates et al.   Nature Reviews Disease Primers

Evolutionally dynamic L1 regulation in embryonic stem cells

(2014) N. Castro-Diaz et al.   GENES & DEVELOPMENT

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

(2014) Frank M. J. Jacobs et al.   NATURE

Tau promotes neurodegeneration through global chromatin relaxation

(2014) Bess Frost et al.   NATURE NEUROSCIENCE

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

(2014) Aurélie Kapusta et al.   TRENDS IN GENETICS

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

(2013) Marco De Cecco et al.   AGING CELL

Human endogenous retrovirus type W envelope protein inhibits oligodendroglial precursor cell differentiation

(2013) David Kremer et al.   ANNALS OF NEUROLOGY

Multiple roles for Piwi in silencing Drosophila transposons

(2013) N. V. Rozhkov et al.   GENES & DEVELOPMENT

Higher-order unfolding of satellite heterochromatin is a consistent and early event in cell senescence

(2013) Eric C. Swanson et al.   JOURNAL OF CELL BIOLOGY

Comprehensive Analysis of Human Endogenous Retrovirus Group HERV-W Locus Transcription in Multiple Sclerosis Brain Lesions by High-Throughput Amplicon Sequencing

(2013) K. Schmitt et al.   JOURNAL OF VIROLOGY

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

(2013) Gillian I Rice et al.   LANCET NEUROLOGY

Activation of transposable elements during aging and neuronal decline in Drosophila

(2013) Wanhe Li et al.   NATURE NEUROSCIENCE

Modulation of LINE-1 and Alu/SVA Retrotransposition by Aicardi-Goutières Syndrome-Related SAMHD1

(2013) Ke Zhao et al.   Cell Reports

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

(2013) Aurélie Kapusta et al.   PLoS Genetics

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

(2012) Grzegorz Sienski et al.   CELL

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

(2012) Gilad D. Evrony et al.   CELL

Expression of HERV-Fc1, a Human Endogenous Retrovirus, Is Increased in Patients with Active Multiple Sclerosis

(2012) M. J. Laska et al.   JOURNAL OF VIROLOGY

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

(2012) Gillian I Rice et al.   NATURE GENETICS

Transposable Elements in TDP-43-Mediated Neurodegenerative Disorders

(2012) Wanhe Li et al.   PLoS One

Active transcription and essential role of RNA polymerase II at the centromere during mitosis

(2012) F. L. Chan et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

(2012) David Kelley et al.   GENOME BIOLOGY

Inhibition of activated pericentromeric SINE/Alu repeat transcription in senescent human adult stem cells reinstates self-renewal

(2011) Jianrong Wang et al.   CELL CYCLE

Retrotransposon activation contributes to fragile X premutation rCGG-mediated neurodegeneration

(2011) H. Tan et al.   HUMAN MOLECULAR GENETICS

BRCA1 tumour suppression occurs via heterochromatin-mediated silencing

(2011) Quan Zhu et al.   NATURE

Somatic retrotransposition alters the genetic landscape of the human brain

(2011) J. Kenneth Baillie et al.   NATURE

Nucleation of nuclear bodies by RNA

(2011) Sergey P. Shevtsov et al.   NATURE CELL BIOLOGY

SUMOylation promotes de novo targeting of HP1α to pericentric heterochromatin

(2011) Christèle Maison et al.   NATURE GENETICS

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

(2011) Mariely DeJesus-Hernandez et al.   NEURON

The Etiology of Multiple Sclerosis: Genetic Evidence for the Involvement of the Human Endogenous Retrovirus HERV-Fc1

(2011) Bjørn A. Nexø et al.   PLoS One

Ataxia telangiectasia mutated (ATM) modulates long interspersed element-1 (L1) retrotransposition in human neural stem cells

(2011) N. G. Coufal et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

An autoimmune disease prevented by anti-retroviral drugs

(2011) Gabriele B Beck-Engeser et al.   Retrovirology

Identification of piRNAs in the central nervous system

(2011) E. J. Lee et al.   RNA

Aberrant Overexpression of Satellite Repeats in Pancreatic and Other Epithelial Cancers

(2011) D. T. Ting et al.   SCIENCE

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

(2010) Renée Douville et al.   ANNALS OF NEUROLOGY

LINE-1 Retrotransposition Activity in Human Genomes

(2010) Christine R. Beck et al.   CELL

Genome-wide characterization of centromeric satellites from multiple mammalian genomes

(2010) C. Alkan et al.   GENOME RESEARCH

KAP1 controls endogenous retroviruses in embryonic stem cells

(2010) Helen M. Rowe et al.   NATURE

L1 retrotransposition in neurons is modulated by MeCP2

(2010) Alysson R. Muotri et al.   NATURE

Alzheimer's Disease

(2010) Henry W. Querfurth et al.   NEW ENGLAND JOURNAL OF MEDICINE

Distinctive patterns of age-dependent hypomethylation in interspersed repetitive sequences

(2010) Pornrutsami Jintaridth et al.   PHYSIOLOGICAL GENOMICS

Clinical and Pathological Continuum of Multisystem TDP-43 Proteinopathies

(2009) Felix Geser et al.   ARCHIVES OF NEUROLOGY

L1 retrotransposition in human neural progenitor cells

(2009) Nicole G. Coufal et al.   NATURE

The regulated retrotransposon transcriptome of mammalian cells

(2009) Geoffrey J Faulkner et al.   NATURE GENETICS

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

(2009) Gillian I Rice et al.   NATURE GENETICS

Inactivation of a Human Kinetochore by Specific Targeting of Chromatin Modifiers

(2008) Megumi Nakano et al.   DEVELOPMENTAL CELL

L1 mobile element expression causes multiple types of toxicity

(2008) Nicholas A. Wallace et al.   GENE

Endogenous siRNAs from naturally formed dsRNAs regulate transcripts in mouse oocytes

(2008) Toshiaki Watanabe et al.   NATURE

Endogenous siRNAs Derived from Transposons and mRNAs in Drosophila Somatic Cells

(2008) M. Ghildiyal et al.   SCIENCE