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

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

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Heat Shock Protein 90 Facilitates Latent HIV Reactivation through Maintaining the Function of Positive Transcriptional Elongation Factor b (p-TEFb) under Proteasome Inhibition

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TDP-43 regulates endogenous retrovirus-K viral protein accumulation

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Spt4 selectively regulates the expression of C9orf72 sense and antisense mutant transcripts

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Restricting retrotransposons: a review

(2016) John L. Goodier   Mobile DNA

Cerebellar c9RAN proteins associate with clinical and neuropathological characteristics of C9ORF72 repeat expansion carriers

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Distribution of dipeptide repeat proteins in cellular models and C9orf72 mutation cases suggests link to transcriptional silencing

(2015) Martin H. Schludi et al.   ACTA NEUROPATHOLOGICA

What might retrotransposons teach us about aging?

(2015) Patrick H. Maxwell   CURRENT GENETICS

Distinct brain transcriptome profiles in C9orf72-associated and sporadic ALS

(2015) Mercedes Prudencio et al.   NATURE NEUROSCIENCE

Human endogenous retrovirus-K contributes to motor neuron disease

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Repetitive elements dynamics in cell identity programming, maintenance and disease

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Mobile DNA elements in the generation of diversity and complexity in the brain

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Increased L1 Retrotransposition in the Neuronal Genome in Schizophrenia

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Bidirectional transcripts of the expanded C9orf72 hexanucleotide repeat are translated into aggregating dipeptide repeat proteins

(2013) Kohji Mori et al.   ACTA NEUROPATHOLOGICA

Antisense transcripts of the expanded C9ORF72 hexanucleotide repeat form nuclear RNA foci and undergo repeat-associated non-ATG translation in c9FTD/ALS

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Characterization of molecular and cellular functions of the cyclin-dependent kinase CDK9 using a novel specific inhibitor

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Association between repeat sizes and clinical and pathological characteristics in carriers of C9ORF72 repeat expansions (Xpansize-72): a cross-sectional cohort study

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Activation of transposable elements during aging and neuronal decline in Drosophila

(2013) Wanhe Li et al.   NATURE NEUROSCIENCE

Unconventional Translation of C9ORF72 GGGGCC Expansion Generates Insoluble Polypeptides Specific to c9FTD/ALS

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The C9orf72 GGGGCC Repeat Is Translated into Aggregating Dipeptide-Repeat Proteins in FTLD/ALS

(2013) K. Mori et al.   SCIENCE

Current insights into the C9orf72 repeat expansion diseases of the FTLD/ALS spectrum

(2013) Marc Cruts et al.   TRENDS IN NEUROSCIENCES

TopHat2: accurate alignment of transcriptomes in the presence of insertions, deletions and gene fusions

(2013) Daehwan Kim et al.   GENOME BIOLOGY

Spt4 Is Selectively Required for Transcription of Extended Trinucleotide Repeats

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Frontotemporal Lobar Degeneration

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Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study

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Transposable Elements in TDP-43-Mediated Neurodegenerative Disorders

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Retrotransposon activation contributes to fragile X premutation rCGG-mediated neurodegeneration

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DICER1 deficit induces Alu RNA toxicity in age-related macular degeneration

(2011) Hiroki Kaneko et al.   NATURE

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

(2011) Mariely DeJesus-Hernandez et al.   NEURON

A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD

(2011) Alan E. Renton et al.   NEURON

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

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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

Simple Combinations of Lineage-Determining Transcription Factors Prime cis-Regulatory Elements Required for Macrophage and B Cell Identities

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Epigenetic silencing of engineered L1 retrotransposition events in human embryonic carcinoma cells

(2010) Jose L. Garcia-Perez et al.   NATURE

L1 retrotransposition in neurons is modulated by MeCP2

(2010) Alysson R. Muotri et al.   NATURE

Differential expression analysis for sequence count data

(2010) Simon Anders et al.   GENOME BIOLOGY

The prevalence of human endogenous retroviruses in cerebrospinal fluids from patients with sporadic Creutzfeldt–Jakob disease

(2009) Byung-Hoon Jeong et al.   JOURNAL OF CLINICAL VIROLOGY

The impact of retrotransposons on human genome evolution

(2009) Richard Cordaux et al.   NATURE REVIEWS GENETICS

CpG Methylation Controls Reactivation of HIV from Latency

(2009) Jana Blazkova et al.   PLoS Pathogens

Evidence of Multisystem Disorder in Whole-Brain Map of Pathological TDP-43 in Amyotrophic Lateral Sclerosis

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