G-quadruplexes: Emerging roles in neurodegenerative diseases and the non-coding transcriptome

A Potassium Ion-Dependent RNA Structural Switch Regulates Human Pre-miRNA 92b Maturation

(2015) Gayan Mirihana Arachchilage et al.   CHEMISTRY & BIOLOGY

The RNA helicase MOV10L1 binds piRNA precursors to initiate piRNA processing

(2015) Anastassios Vourekas et al.   GENES & DEVELOPMENT

Characterization of DNA G-quadruplex species forming from C9ORF72 G4C2-expanded repeats associated with amyotrophic lateral sclerosis and frontotemporal lobar degeneration

(2015) Primož Šket et al.   NEUROBIOLOGY OF AGING

Insights into the mechanism of a G-quadruplex-unwinding DEAH-box helicase

(2015) Michael C. Chen et al.   NUCLEIC ACIDS RESEARCH

Small-molecule quadruplex-targeted drug discovery

(2014) Stephan A. Ohnmacht et al.   BIOORGANIC & MEDICINAL CHEMISTRY LETTERS

C9orf72 amyotrophic lateral sclerosis and frontotemporal dementia

(2014) Sarah Mizielinska et al.   CURRENT OPINION IN NEUROLOGY

FANCJ promotes DNA synthesis through G-quadruplex structures

(2014) P. Castillo Bosch et al.   EMBO JOURNAL

Pathogenesis/genetics of frontotemporal dementia and how it relates to ALS

(2014) Janis Bennion Callister et al.   EXPERIMENTAL NEUROLOGY

A double-edged sword: R loops as threats to genome integrity and powerful regulators of gene expression

(2014) K. Skourti-Stathaki et al.   GENES & DEVELOPMENT

C9orf72 nucleotide repeat structures initiate molecular cascades of disease

(2014) Aaron R. Haeusler et al.   NATURE

PIWI proteins and PIWI-interacting RNAs in the soma

(2014) Robert J. Ross et al.   NATURE

G quadruplexes are genomewide targets of transcriptional helicases XPB and XPD

(2014) Lucas T Gray et al.   Nature Chemical Biology

Unconventional features of C9ORF72 expanded repeat in amyotrophic lateral sclerosis and frontotemporal lobar degeneration

(2014) Sabina Vatovec et al.   NEUROBIOLOGY OF AGING

Discovery of a Biomarker and Lead Small Molecules to Target r(GGGGCC)-Associated Defects in c9FTD/ALS

(2014) Zhaoming Su et al.   NEURON

Antisense Proline-Arginine RAN Dipeptides Linked to C9ORF72-ALS/FTD Form Toxic Nuclear Aggregates that Initiate In Vitro and In Vivo Neuronal Death

(2014) Xinmei Wen et al.   NEURON

Processing of double-R-loops in (CAG)·(CTG) and C9orf72 (GGGGCC)·(GGCCCC) repeats causes instability

(2014) Kaalak Reddy et al.   NUCLEIC ACIDS RESEARCH

G-quadruplex structures contribute to the neuroprotective effects of angiogenin-induced tRNA fragments

(2014) Pavel Ivanov et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

G quadruplex RNA structures in PSD-95 mRNA: potential regulators of miR-125a seed binding site accessibility

(2014) Snezana Stefanovic et al.   RNA

C9orf72 repeat expansions cause neurodegeneration in Drosophila through arginine-rich proteins

(2014) S. Mizielinska et al.   SCIENCE

R-loops Associated with Triplet Repeat Expansions Promote Gene Silencing in Friedreich Ataxia and Fragile X Syndrome

(2014) Matthias Groh et al.   PLoS Genetics

Transcription-Associated R-Loop Formation across the Human FMR1 CGG-Repeat Region

(2014) Erick W. Loomis et al.   PLoS Genetics

Telomeric noncoding RNA: telomeric repeat-containing RNA in telomere biology

(2014) Emilio Cusanelli et al.   Wiley Interdisciplinary Reviews-RNA

Periodic DNA patrolling underlies diverse functions of Pif1 on R-loops and G-rich DNA

(2014) Ruobo Zhou et al.   eLife

Dipeptide repeat protein pathology in C9ORF72 mutation cases: clinico-pathological correlations

(2013) Ian R. Mackenzie et al.   ACTA NEUROPATHOLOGICA

C9orf72 frontotemporal lobar degeneration is characterised by frequent neuronal sense and antisense RNA foci

(2013) Sarah Mizielinska et al.   ACTA NEUROPATHOLOGICA

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

(2013) Tania F. Gendron et al.   ACTA NEUROPATHOLOGICA

Modeling key pathological features of frontotemporal dementia with C9ORF72 repeat expansion in iPSC-derived human neurons

(2013) Sandra Almeida et al.   ACTA NEUROPATHOLOGICA

Large C9orf72 Hexanucleotide Repeat Expansions Are Seen in Multiple Neurodegenerative Syndromes and Are More Frequent Than Expected in the UK Population

(2013) Jon Beck et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The miR-92b functions as a potential oncogene by targeting on Smad3 in glioblastomas

(2013) Zhe Bao Wu et al.   BRAIN RESEARCH

The Disease-associated r(GGGGCC)nRepeat from theC9orf72Gene Forms Tract Length-dependent Uni- and Multimolecular RNA G-quadruplex Structures

(2013) Kaalak Reddy et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

TMPyP4 Porphyrin Distorts RNA G-quadruplex Structures of the Disease-associated r(GGGGCC)nRepeat of theC9orf72Gene and Blocks Interaction of RNA-binding Proteins

(2013) Bita Zamiri et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

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

(2013) Marka van Blitterswijk et al.   LANCET NEUROLOGY

Pif1 family helicases suppress genome instability at G-quadruplex motifs

(2013) Katrin Paeschke et al.   NATURE

Visualization and selective chemical targeting of RNA G-quadruplex structures in the cytoplasm of human cells

(2013) Giulia Biffi et al.   Nature Chemistry

Quantitative visualization of DNA G-quadruplex structures in human cells

(2013) Giulia Biffi et al.   Nature Chemistry

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

(2013) Peter E.A. Ash et al.   NEURON

RNA Toxicity from the ALS/FTD C9ORF72 Expansion Is Mitigated by Antisense Intervention

(2013) Christopher J. Donnelly et al.   NEURON

CGG Repeat-Associated Translation Mediates Neurodegeneration in Fragile X Tremor Ataxia Syndrome

(2013) Peter K. Todd et al.   NEURON

Converging Mechanisms in ALS and FTD: Disrupted RNA and Protein Homeostasis

(2013) Shuo-Chien Ling et al.   NEURON

Targeting the unfolded protein response in neurodegeneration: A new approach to therapy

(2013) Mark Halliday et al.   NEUROPHARMACOLOGY

Detection of G-quadruplex DNA in mammalian cells

(2013) A. Henderson et al.   NUCLEIC ACIDS RESEARCH

Bioinformatic analysis reveals an evolutional selection for DNA:RNA hybrid G-quadruplex structures as putative transcription regulatory elements in warm-blooded animals

(2013) Shan Xiao et al.   NUCLEIC ACIDS RESEARCH

Co-transcriptional formation of DNA:RNA hybrid G-quadruplex and potential function as constitutional cis element for transcription control

(2013) Ke-wei Zheng et al.   NUCLEIC ACIDS RESEARCH

MicroRNA-92b regulates the development of intermediate cortical progenitors in embryonic mouse brain

(2013) T. J. Nowakowski et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

RAN proteins and RNA foci from antisense transcripts in C9ORF72 ALS and frontotemporal dementia

(2013) T. Zu et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Targeted degradation of sense and antisense C9orf72 RNA foci as therapy for ALS and frontotemporal degeneration

(2013) C. Lagier-Tourenne et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Transposition-Driven Genomic Heterogeneity in the Drosophila Brain

(2013) P. N. Perrat et al.   SCIENCE

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

(2013) K. Mori et al.   SCIENCE

Targeting RNA Foci in iPSC-Derived Motor Neurons from ALS Patients with a C9ORF72 Repeat Expansion

(2013) D. Sareen et al.   Science Translational Medicine

The G4 Genome

(2013) Nancy Maizels et al.   PLoS Genetics

Dipeptide repeat proteins are present in the p62 positive inclusions in patients with frontotemporal lobar degeneration and motor neurone disease associated with expansions in C9ORF72

(2013) David MA Mann et al.   Acta Neuropathologica Communications

A Role for Neuronal piRNAs in the Epigenetic Control of Memory-Related Synaptic Plasticity

(2012) Priyamvada Rajasethupathy et al.   CELL

piRNAs and their involvement in male germline development in mice

(2012) Ramesh S. Pillai et al.   DEVELOPMENT GROWTH & DIFFERENTIATION

Tandem repeat sequence variation as causative Cis-eQTLs for protein-coding gene expression variation: The case of CSTB

(2012) Christelle Borel et al.   HUMAN MUTATION

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

(2012) Elisa Majounie et al.   LANCET NEUROLOGY

Targeting nuclear RNA for in vivo correction of myotonic dystrophy

(2012) Thurman M. Wheeler et al.   NATURE

Mili and Miwi target RNA repertoire reveals piRNA biogenesis and function of Miwi in spermiogenesis

(2012) Anastassios Vourekas et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Length of normal alleles of C9ORF72 GGGGCC repeat do not influence disease phenotype

(2012) Nicola J. Rutherford et al.   NEUROBIOLOGY OF AGING

Clinical features of SCA36: A novel spinocerebellar ataxia with motor neuron involvement (Asidan)

(2012) Y. Ikeda et al.   NEUROLOGY

A hybrid G-quadruplex structure formed between RNA and DNA explains the extraordinary stability of the mitochondrial R-loop

(2012) P. H. Wanrooij et al.   NUCLEIC ACIDS RESEARCH

5'-UTR RNA G-quadruplexes: translation regulation and targeting

(2012) A. Bugaut et al.   NUCLEIC ACIDS RESEARCH

RNase H-mediated degradation of toxic RNA in myotonic dystrophy type 1

(2012) J. E. Lee et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Potential G-quadruplexes in the human long non-coding transcriptome

(2012) Gopal Gunanathan Jayaraj et al.   RNA Biology

C9orf72 hexanucleotide repeat associated with amyotrophic lateral sclerosis and frontotemporal dementia forms RNA G-quadruplexes

(2012) Pietro Fratta et al.   Scientific Reports

G-quadruplexes in RNA biology

(2012) Stefania Millevoi et al.   Wiley Interdisciplinary Reviews-RNA

Expansion of Intronic GGCCTG Hexanucleotide Repeat in NOP56 Causes SCA36, a Type of Spinocerebellar Ataxia Accompanied by Motor Neuron Involvement

(2011) Hatasu Kobayashi et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Angiogenin variants in Parkinson disease and amyotrophic lateral sclerosis

(2011) Michael A. van Es et al.   ANNALS OF NEUROLOGY

Molecular Mechanisms of Fragile X Syndrome: A Twenty-Year Perspective

(2011) Michael R. Santoro et al.   Annual Review of Pathology-Mechanisms of Disease

DNA Replication through G-Quadruplex Motifs Is Promoted by the Saccharomyces cerevisiae Pif1 DNA Helicase

(2011) Katrin Paeschke et al.   CELL

FMRP Stalls Ribosomal Translocation on mRNAs Linked to Synaptic Function and Autism

(2011) Jennifer C. Darnell et al.   CELL

Human DHX9 helicase preferentially unwinds RNA-containing displacement loops (R-loops) and G-quadruplexes

(2011) Prasun Chakraborty et al.   DNA REPAIR

G–quadruplex RNA structure as a signal for neurite mRNA targeting

(2011) Murugan Subramanian et al.   EMBO REPORTS

3′ End Formation of PIWI-Interacting RNAs In Vitro

(2011) Shinpei Kawaoka et al.   MOLECULAR CELL

Angiogenin-Induced tRNA Fragments Inhibit Translation Initiation

(2011) Pavel Ivanov et al.   MOLECULAR CELL

Reversible Inhibition of PSD-95 mRNA Translation by miR-125a, FMRP Phosphorylation, and mGluR Signaling

(2011) Ravi S. Muddashetty et al.   MOLECULAR CELL

Potent and Selective Antisense Oligonucleotides Targeting Single-Nucleotide Polymorphisms in the Huntington Disease Gene / Allele-Specific Silencing of Mutant Huntingtin

(2011) Jeffrey B Carroll et al.   MOLECULAR THERAPY

PIWI-interacting small RNAs: the vanguard of genome defence

(2011) Mikiko C. Siomi et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

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

Identification of piRNAs in the central nervous system

(2011) E. J. Lee et al.   RNA

Allele-Selective Inhibition of MutantHuntingtinExpression with Antisense Oligonucleotides Targeting the Expanded CAG Repeat

(2010) Keith T. Gagnon et al.   BIOCHEMISTRY

Making sense of G-quadruplex and i-motif functions in oncogene promoters

(2010) Tracy A. Brooks et al.   FEBS Journal

Structure, location and interactions of G-quadruplexes

(2010) Julian L. Huppert   FEBS Journal

Arginines of the RGG box regulate FMRP association with polyribosomes and mRNA

(2010) E. Blackwell et al.   HUMAN MOLECULAR GENETICS

Angiogenin-induced tRNA-derived Stress-induced RNAs Promote Stress-induced Stress Granule Assembly

(2010) Mohamed M. Emara et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Regulation of Synaptic Structure and Function by FMRP-Associated MicroRNAs miR-125b and miR-132

(2010) Dieter Edbauer et al.   NEURON

A crystallographic and modelling study of a human telomeric RNA (TERRA) quadruplex

(2010) Gavin W. Collie et al.   NUCLEIC ACIDS RESEARCH

Mouse MOV10L1 associates with Piwi proteins and is an essential component of the Piwi-interacting RNA (piRNA) pathway

(2010) K. Zheng et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Non-ATG-initiated translation directed by microsatellite expansions

(2010) T. Zu et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Incidence of Fragile X Syndrome by Newborn Screening for Methylated FMR1 DNA

(2009) Bradford Coffee et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Selectivity in Ligand Recognition of G-Quadruplex Loops†

(2009) Nancy H. Campbell et al.   BIOCHEMISTRY

Anticancer Activity of CX-3543: A Direct Inhibitor of rRNA Biogenesis

(2009) D. Drygin et al.   CANCER RESEARCH

The structures of quadruplex nucleic acids and their drug complexes

(2009) Stephen Neidle   CURRENT OPINION IN STRUCTURAL BIOLOGY

Evaluation of Parameters Critical for Observing Nucleic Acids Inside LivingXenopus laevisOocytes by In-Cell NMR Spectroscopy

(2009) Robert Hänsel et al.   JOURNAL OF THE AMERICAN CHEMICAL SOCIETY

Structure of Propeller-Type Parallel-Stranded RNA G-Quadruplexes, Formed by Human Telomeric RNA Sequences in K+Solution

(2009) Herry Martadinata et al.   JOURNAL OF THE AMERICAN CHEMICAL SOCIETY

Genome-wide analysis of a G-quadruplex-specific single-chain antibody that regulates gene expression

(2009) Himesh Fernando et al.   NUCLEIC ACIDS RESEARCH

A Novel Function for Fragile X Mental Retardation Protein in Translational Activation

(2009) Elias G Bechara et al.   PLOS BIOLOGY

Early Onset Prion Disease from Octarepeat Expansion Correlates with Copper Binding Properties

(2009) Daniel J. Stevens et al.   PLoS Pathogens

The Fragile X Syndrome Protein Represses Activity-Dependent Translation through CYFIP1, a New 4E-BP

(2008) Ilaria Napoli et al.   CELL

Translational Regulation of the Human Achaete-scute Homologue-1 by Fragile X Mental Retardation Protein

(2008) Michael Fähling et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

G4 Resolvase 1 Binds Both DNA and RNA Tetramolecular Quadruplex with High Affinity and Is the Major Source of Tetramolecular Quadruplex G4-DNA and G4-RNA Resolving Activity in HeLa Cell Lysates

(2008) Steven D. Creacy et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Structural Basis of DNA Quadruplex Recognition by an Acridine Drug

(2008) Nancy H. Campbell et al.   JOURNAL OF THE AMERICAN CHEMICAL SOCIETY

Epigenetics of a tandem DNA repeat: chromatin DNaseI sensitivity and opposite methylation changes in cancers

(2008) Koji Tsumagari et al.   NUCLEIC ACIDS RESEARCH

The G-quartet containing FMRP binding site in FMR1 mRNA is a potent exonic splicing enhancer

(2008) Marie-Cécile Didiot et al.   NUCLEIC ACIDS RESEARCH

G-quadruplexes: the beginning and end of UTRs

(2008) Julian Leon Huppert et al.   NUCLEIC ACIDS RESEARCH

Characterization of endogenous human Argonautes and their miRNA partners in RNA silencing

(2008) A. Azuma-Mukai et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Fragile X mental retardation protein interactions with the microtubule associated protein 1B RNA

(2008) L. Menon et al.   RNA