The RNA helicase DHX36–G4R1 modulates C9orf72 GGGGCC hexanucleotide repeat–associated translation

CGG repeat RNA G-quadruplexes interact with FMRpolyG to cause neuronal dysfunction in fragile X-related tremor/ataxia syndrome

(2021) Sefan Asamitsu et al.   Science Advances

A Helicase Unwinds Hexanucleotide Repeat RNA G-Quadruplexes and Facilitates Repeat-Associated Non-AUG Translation

(2021) Honghe Liu et al.   JOURNAL OF THE AMERICAN CHEMICAL SOCIETY

Metformin inhibits RAN translation through PKR pathway and mitigates disease inC9orf72ALS/FTD mice

(2020) Tao Zu et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The DEAH helicase DHX36 and its role in G-quadruplex-dependent processes

(2020) Philipp Schult et al.   BIOLOGICAL CHEMISTRY

A 5′ UTR GGN repeat controls localisation and translation of a potassium leak channel mRNA through G-quadruplex formation

(2020) Connor J Maltby et al.   NUCLEIC ACIDS RESEARCH

Repeat‐associated non‐AUG translation in C9orf72‐ALS/FTD is driven by neuronal excitation and stress

(2019) Thomas Westergard et al.   EMBO Molecular Medicine

eIF4B and eIF4H mediate GR production from expanded G4C2 in a Drosophila model for C9orf72-associated ALS

(2019) Lindsey D. Goodman et al.   Acta Neuropathologica Communications

DDX 3X and specific initiation factors modulate FMR 1 repeat‐associated non‐AUG‐initiated translation

(2019) Alexander E Linsalata et al.   EMBO REPORTS

RPS25 is required for efficient RAN translation of C9orf72 and other neurodegenerative disease-associated nucleotide repeats

(2019) Shizuka B. Yamada et al.   NATURE NEUROSCIENCE

DHX36 prevents the accumulation of translationally inactive mRNAs with G4-structures in untranslated regions

(2019) Markus Sauer et al.   Nature Communications

Production of poly(GA) in C9ORF72 patient motor neurons derived from induced pluripotent stem cells

(2019) Sandra Almeida et al.   ACTA NEUROPATHOLOGICA

New pathologic mechanisms in nucleotide repeat expansion disorders

(2019) C.M. Rodriguez et al.   NEUROBIOLOGY OF DISEASE

CRISPR-Cas9 Screens Identify the RNA Helicase DDX3X as a Repressor of C9ORF72 (GGGGCC)n Repeat-Associated Non-AUG Translation

(2019) Weiwei Cheng et al.   NEURON

Haploinsufficiency leads to neurodegeneration in C9ORF72 ALS/FTD human induced motor neurons

(2018) Yingxiao Shi et al.   NATURE MEDICINE

Translation of dipeptide repeat proteins from the C9ORF72 expanded repeat is associated with cellular stress

(2018) Yoshifumi Sonobe et al.   NEUROBIOLOGY OF DISEASE

C9ORF72 GGGGCC repeat-associated non-AUG translation is upregulated by stress through eIF2α phosphorylation

(2018) Weiwei Cheng et al.   Nature Communications

CUG initiation and frameshifting enable production of dipeptide repeat proteins from ALS/FTD C9ORF72 transcripts

(2018) Ricardos Tabet et al.   Nature Communications

Structural basis of G-quadruplex unfolding by the DEAH/RHA helicase DHX36

(2018) Michael C. Chen et al.   NATURE

RNAi-mediated knockdown of the Rhau helicase preferentially depletes proteins with a Guanine-quadruplex motif in the 5'-UTR of their mRNA

(2018) Karen Vester et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Translation of Expanded CGG Repeats into FMRpolyG Is Pathogenic and May Contribute to Fragile X Tremor Ataxia Syndrome

(2017) Chantal Sellier et al.   NEURON

Human DDX21 binds and unwinds RNA guanine quadruplexes

(2017) Ewan K.S. McRae et al.   NUCLEIC ACIDS RESEARCH

A PR plug for the nuclear pore in amyotrophic lateral sclerosis

(2017) J. Paul Taylor   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Toxic PRnpoly-dipeptides encoded by theC9orf72repeat expansion block nuclear import and export

(2017) Kevin Y. Shi et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

RAN translation at C9orf72-associated repeat expansions is selectively enhanced by the integrated stress response

(2017) Katelyn M. Green et al.   Nature Communications

Repeat-associated non-AUG translation from antisense CCG repeats in fragile X tremor/ataxia syndrome

(2016) Amy Krans et al.   ANNALS OF NEUROLOGY

RNA Helicase Associated with AU-rich Element (RHAU/DHX36) Interacts with the 3′-Tail of the Long Non-coding RNA BC200 (BCYRN1)

(2016) Evan P. Booy et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Evidence That G-quadruplex DNA Accumulates in the Cytoplasm and Participates in Stress Granule Assembly in Response to Oxidative Stress

(2016) Alicia K. Byrd et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Translation Regulation of the Glutamyl-prolyl-tRNA Synthetase GeneEPRSthrough Bypass of Upstream Open Reading Frames with Noncanonical Initiation Codons

(2016) Sara K. Young et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

CGG Repeat-Associated Non-AUG Translation Utilizes a Cap-Dependent Scanning Mechanism of Initiation to Produce Toxic Proteins

(2016) Michael G. Kearse et al.   MOLECULAR CELL

G-quadruplex structures mark human regulatory chromatin

(2016) Robert Hänsel-Hertsch et al.   NATURE GENETICS

Comparative analysis of C9orf72 and sporadic disease in an ALS clinic population

(2016) Mfon E. Umoh et al.   NEUROLOGY

G-quadruplexes and helicases

(2016) Oscar Mendoza et al.   NUCLEIC ACIDS RESEARCH

Re-evaluation of G-quadruplex propensity with G4Hunter

(2016) Amina Bedrat et al.   NUCLEIC ACIDS RESEARCH

Translation from the 5' untranslated region shapes the integrated stress response

(2016) S. R. Starck et al.   SCIENCE

Translational control by 5'-untranslated regions of eukaryotic mRNAs

(2016) A. G. Hinnebusch et al.   SCIENCE

Cell-to-Cell Transmission of Dipeptide Repeat Proteins Linked to C9orf72 -ALS/FTD

(2016) Thomas Westergard et al.   Cell Reports

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

(2016) Erin G Conlon et al.   eLife

G-quadruplexes mediate local translation in neurons

(2015) James P.R. Schofield et al.   BIOCHEMICAL SOCIETY TRANSACTIONS

G4-associated human diseases

(2015) N. Maizels   EMBO REPORTS

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

(2015) Roberto Simone et al.   FEBS LETTERS

Reversibility of neuropathology and motor deficits in an inducible mouse model for FXTAS

(2015) Renate K. Hukema et al.   HUMAN MOLECULAR GENETICS

Presence of inclusions positive for polyglycine containing protein, FMRpolyG, indicates that repeat-associated non-AUG translation plays a role in fragile X-associated primary ovarian insufficiency

(2015) R.A.M. Buijsen et al.   HUMAN REPRODUCTION

High-throughput sequencing of DNA G-quadruplex structures in the human genome

(2015) Vicki S Chambers et al.   NATURE BIOTECHNOLOGY

G-quadruplexes and their regulatory roles in biology

(2015) Daniela Rhodes et al.   NUCLEIC ACIDS RESEARCH

Topology of a G-quadruplex DNA formed by C9orf72 hexanucleotide repeats associated with ALS and FTD

(2015) Bo Zhou et al.   Scientific Reports

Post-transcriptional Regulation of Nkx2-5 by RHAU in Heart Development

(2015) Junwei Nie et al.   Cell Reports

Mutational Dissection of Telomeric DNA Binding Requirements of G4 Resolvase 1 Shows that G4-Structure and Certain 3’-Tail Sequences Are Sufficient for Tight and Complete Binding

(2015) Philip J. Smaldino et al.   PLoS One

C9orf72 nucleotide repeat structures initiate molecular cascades of disease

(2014) Aaron R. Haeusler et al.   NATURE

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

(2014) Zhaoming Su et al.   NEURON

DHX36 Enhances RIG-I Signaling by Facilitating PKR-Mediated Antiviral Stress Granule Formation

(2014) Ji-Seung Yoo et al.   PLoS Pathogens

FMRpolyG-positive inclusions in CNS and non-CNS organs of a fragile X premutation carrier with fragile X-associated tremor/ataxia syndrome

(2014) Ronald AM Buijsen et al.   Acta Neuropathologica Communications

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

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

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

(2013) Peter K. Todd et al.   NEURON

The RNA helicase RHAU (DHX36) suppresses expression of the transcription factor PITX1

(2013) E. P. Booy et al.   NUCLEIC ACIDS RESEARCH

Detection of G-quadruplex DNA in mammalian cells

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

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

Intermediate repeat expansion length in C9orf72 may be pathological in amyotrophic lateral sclerosis

(2013) Susan Byrne et al.   Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

The RNA helicase RHAU (DHX36) unwinds a G4-quadruplex in human telomerase RNA and promotes the formation of the P1 helix template boundary

(2012) E. P. Booy et al.   NUCLEIC ACIDS RESEARCH

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

(2012) Pietro Fratta et al.   Scientific Reports

Cellular IRES-mediated translation

(2011) Anton A Komar et al.   CELL CYCLE

Histone deacetylase inhibitor MS-275 stimulates bone formation in part by enhancing Dhx36-mediated TNAP transcription

(2011) Ha-Neui Kim et al.   JOURNAL OF BONE AND MINERAL RESEARCH

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

G4 Resolvase 1 tightly binds and unwinds unimolecular G4-DNA

(2011) Banabihari Giri et al.   NUCLEIC ACIDS RESEARCH

Yin Yang 1 contains G-quadruplex structures in its promoter and 5′-UTR and its expression is modulated by G4 resolvase 1

(2011) Weiwei Huang et al.   NUCLEIC ACIDS RESEARCH

The Unfolded Protein Response: From Stress Pathway to Homeostatic Regulation

(2011) P. Walter et al.   SCIENCE

The 5' Guanosine Tracts of Human Telomerase RNA Are Recognized by the G-Quadruplex Binding Domain of the RNA Helicase DHX36 and Function To Increase RNA Accumulation

(2010) A. N. Sexton et al.   MOLECULAR AND CELLULAR BIOLOGY

The mechanism of eukaryotic translation initiation and principles of its regulation

(2010) Richard J. Jackson et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

SUnSET, a nonradioactive method to monitor protein synthesis

(2009) Enrico K Schmidt et al.   NATURE METHODS

Transcription-dependent nucleolar cap localization and possible nuclear function of DExH RNA helicase RHAU

(2008) Fumiko Iwamoto et al.   EXPERIMENTAL CELL RESEARCH

Recruitment of the RNA Helicase RHAU to Stress Granules via a Unique RNA-binding Domain

(2008) Kateřina Chalupníková 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