The C9ORF72 GGGGCC expansion forms RNA G-quadruplex inclusions and sequesters hnRNP H to disrupt splicing in ALS brains

The expanding biology of the C9orf72 nucleotide repeat expansion in neurodegenerative disease

(2016) Aaron R. Haeusler et al.   NATURE REVIEWS NEUROSCIENCE

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

(2015) Roberto Simone et al.   FEBS LETTERS

Extensive size variability of the GGGGCC expansion in C9orf72 in both neuronal and non-neuronal tissues in 18 patients with ALS or FTD

(2015) Angelica Nordin et al.   HUMAN MOLECULAR GENETICS

Nuclear accumulation of mRNAs underlies G4C2-repeat-induced translational repression in a cellular model of C9orf72 ALS

(2015) S. Rossi et al.   JOURNAL OF CELL SCIENCE

The C9orf72 repeat expansion disrupts nucleocytoplasmic transport

(2015) Ke Zhang et al.   NATURE

Distinct brain transcriptome profiles in C9orf72-associated and sporadic ALS

(2015) Mercedes Prudencio et al.   NATURE NEUROSCIENCE

Disease-associated mutation inSRSF2misregulates splicing by altering RNA-binding affinities

(2015) Jian Zhang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

FUS regulates AMPA receptor function and FTLD/ALS-associated behaviour via GluA1 mRNA stabilization

(2015) Tsuyoshi Udagawa et al.   Nature Communications

Cortical Function in Asymptomatic Carriers and Patients WithC9orf72Amyotrophic Lateral Sclerosis

(2015) Nimeshan Geevasinga et al.   JAMA Neurology

C9ORF72 GGGGCC Expanded Repeats Produce Splicing Dysregulation which Correlates with Disease Severity in Amyotrophic Lateral Sclerosis

(2015) Johnathan Cooper-Knock et al.   PLoS One

Sequestration of multiple RNA recognition motif-containing proteins by C9orf72 repeat expansions

(2014) Johnathan Cooper-Knock et al.   BRAIN

C9orf72 nucleotide repeat structures initiate molecular cascades of disease

(2014) Aaron R. Haeusler et al.   NATURE

Ataxin-2 as potential disease modifier in C9ORF72 expansion carriers

(2014) Marka van Blitterswijk et al.   NEUROBIOLOGY OF AGING

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

Necroptosis Drives Motor Neuron Death in Models of Both Sporadic and Familial ALS

(2014) Diane B. Re et al.   NEURON

Identification and characterization of RNA guanine-quadruplex binding proteins

(2014) Annekathrin von Hacht et al.   NUCLEIC ACIDS RESEARCH

Cerebellar Integrity in the Amyotrophic Lateral Sclerosis - Frontotemporal Dementia Continuum

(2014) Rachel H. Tan et al.   PLoS One

Dendritic spinopathy in transgenic mice expressing ALS/dementia-linked mutantUBQLN2

(2014) George H. Gorrie et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

rMATS: Robust and flexible detection of differential alternative splicing from replicate RNA-Seq data

(2014) Shihao Shen et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Poly-dipeptides encoded by the C9orf72 repeats bind nucleoli, impede RNA biogenesis, and kill cells

(2014) I. Kwon et al.   SCIENCE

Nrf2 reduces levels of phosphorylated tau protein by inducing autophagy adaptor protein NDP52

(2014) Chulman Jo et al.   Nature Communications

RNA Helicases DDX5 and DDX17 Dynamically Orchestrate Transcription, miRNA, and Splicing Programs in Cell Differentiation

(2014) Etienne Dardenne et al.   Cell Reports

Protein aggregation in amyotrophic lateral sclerosis

(2013) Anna M. Blokhuis et al.   ACTA NEUROPATHOLOGICA

hnRNP A3 binds to GGGGCC repeats and is a constituent of p62-positive/TDP43-negative inclusions in the hippocampus of patients with C9orf72 mutations

(2013) Kohji Mori et al.   ACTA NEUROPATHOLOGICA

RNA dysfunction and aggrephagy at the centre of an amyotrophic lateral sclerosis/frontotemporal dementia disease continuum

(2013) Matthew Thomas et al.   BRAIN

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

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

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

(2013) Christopher J. Donnelly et al.   NEURON

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

(2013) Shuo-Chien Ling et al.   NEURON

VCP Is an Integral Component of a Novel Feedback Mechanism that Controls Intracellular Localization of Catalase and H2O2 Levels

(2013) Katsuhiro Murakami et al.   PLoS One

Expanded GGGGCC repeat RNA associated with amyotrophic lateral sclerosis and frontotemporal dementia causes neurodegeneration

(2013) Z. Xu et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

(2013) K. Mori et al.   SCIENCE

Hexanucleotide Repeats in ALS/FTD Form Length-Dependent RNA Foci, Sequester RNA Binding Proteins, and Are Neurotoxic

(2013) Youn-Bok Lee et al.   Cell Reports

Characteristics of Tau Oligomers

(2013) Yan Ren et al.   Frontiers in Neurology

Unravelling the enigma of selective vulnerability in neurodegeneration: motor neurons resistant to degeneration in ALS show distinct gene expression characteristics and decreased susceptibility to excitotoxicity

(2012) Alice Brockington et al.   ACTA NEUROPATHOLOGICA

Stability and Structure of Long Intramolecular G-Quadruplexes

(2012) Linda Payet et al.   BIOCHEMISTRY

A G-Rich element forms a G-quadruplex and regulates BACE1 mRNA alternative splicing

(2012) Jean-François Fisette et al.   JOURNAL OF NEUROCHEMISTRY

Regulation of neuronal GABAB receptor functions by subunit composition

(2012) Martin Gassmann et al.   NATURE REVIEWS NEUROSCIENCE

The high kinetic stability of a G-quadruplex limits hnRNP F qRRM3 binding to G-tract RNA

(2012) Brighton Samatanga et al.   NUCLEIC ACIDS RESEARCH

Integrative Genome-wide Analysis Reveals Cooperative Regulation of Alternative Splicing by hnRNP Proteins

(2012) Stephanie C. Huelga et al.   Cell Reports

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

Structure of Long Human Telomeric RNA (TERRA): G-Quadruplexes Formed by Four and Eight UUAGGG Repeats Are Stable Building Blocks

(2011) Herry Martadinata et al.   BIOCHEMISTRY

Toward a Digital Gene Response: RNA G-Quadruplexes with Fewer Quartets Fold with Higher Cooperativity

(2011) Melissa A. Mullen et al.   JOURNAL OF THE AMERICAN CHEMICAL SOCIETY

Structural Basis of Telomeric RNA Quadruplex−Acridine Ligand Recognition

(2011) Gavin W. Collie et al.   JOURNAL OF THE AMERICAN CHEMICAL SOCIETY

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

Heterogeneous Nuclear Ribonucleoprotein H1/H2-dependent Unsplicing of Thymidine Phosphorylase Results in Anticancer Drug Resistance

(2010) Michal Stark et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS

(2010) Andrew C. Elden et al.   NATURE

Analysis and design of RNA sequencing experiments for identifying isoform regulation

(2010) Yarden Katz et al.   NATURE METHODS

Structural basis of G-tract recognition and encaging by hnRNP F quasi-RRMs

(2010) Cyril Dominguez et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

G-quadruplex nucleic acids as therapeutic targets

(2009) Shankar Balasubramanian et al.   CURRENT OPINION IN CHEMICAL BIOLOGY

Splice site strength–dependent activity and genetic buffering by poly-G runs

(2009) Xinshu Xiao et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Structural Diversity and Extreme Stability of UnimolecularOxytricha novaTelomeric G-Quadruplex†

(2008) Ja Yil Lee et al.   BIOCHEMISTRY