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

Identification and immunohistochemical characterization of G-quadruplexes in mouse brain

(2020) Sefan Asamitsu et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

A native function for RAN translation and CGG repeats in regulating fragile X protein synthesis

(2020) Caitlin M. Rodriguez et al.   NATURE NEUROSCIENCE

Protein transmission in neurodegenerative disease

(2020) Chao Peng et al.   Nature Reviews Neurology

Astroglial-targeted expression of the fragile X CGG repeat premutation in mice yields RAN translation, motor deficits and possible evidence for cell-to-cell propagation of FXTAS pathology

(2019) H. Jürgen Wenzel et al.   Acta Neuropathologica Communications

Recent Progress of Targeted G-Quadruplex-Preferred Ligands Toward Cancer Therapy

(2019) Sefan Asamitsu et al.   MOLECULES

C9orf72 and Triplet Repeat Disorder RNAs: G-quadruplex formation, binding to PRC2 and implications for disease mechanisms

(2019) Xueyin Wang et al.   RNA

Long-read sequencing identifies GGC repeat expansions in NOTCH2NLC associated with neuronal intranuclear inclusion disease

(2019) Jun Sone et al.   NATURE GENETICS

Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease

(2019) Hiroyuki Ishiura et al.   NATURE GENETICS

High-throughput screening yields several small-molecule inhibitors of repeat-associated non-AUG translation

(2019) Katelyn M. Green et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Neuropathology of RAN translation proteins in fragile X-associated tremor/ataxia syndrome

(2019) Amy Krans et al.   Acta Neuropathologica Communications

Differential α-synuclein expression contributes to selective vulnerability of hippocampal neuron subpopulations to fibril-induced toxicity

(2018) Esteban Luna et al.   ACTA NEUROPATHOLOGICA

Targeting G-quadruplex DNA as cognitive function therapy for ATR-X syndrome

(2018) Norifumi Shioda et al.   NATURE MEDICINE

RNA self-assembly contributes to stress granule formation and defining the stress granule transcriptome

(2018) Briana Van Treeck et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Protein Phase Separation: A New Phase in Cell Biology

(2018) Steven Boeynaems et al.   TRENDS IN CELL BIOLOGY

Calcium dysregulation and Cdk5-ATM pathway involved in a mouse model of fragile X-associated tremor/ataxia syndrome

(2017) Gaëlle Robin et al.   HUMAN MOLECULAR GENETICS

RNA phase transitions in repeat expansion disorders

(2017) Ankur Jain et al.   NATURE

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

(2017) Chantal Sellier et al.   NEURON

Prions on the run: How extracellular vesicles serve as delivery vehicles for self-templating protein aggregates

(2017) Shu Liu et al.   Prion

Structural Characteristics of Simple RNA Repeats Associated with Disease and their Deleterious Protein Interactions

(2017) Adam Ciesiolka et al.   Frontiers in Cellular Neuroscience

Liquid–liquid phase separation of the microtubule-binding repeats of the Alzheimer-related protein Tau

(2017) Susmitha Ambadipudi 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

Toxic PR Poly-Dipeptides Encoded by the C9orf72 Repeat Expansion Target LC Domain Polymers

(2016) Yi Lin et al.   CELL

Interaction of hemin with quadruplex DNA

(2016) Maryam Ghahremani Nasab et al.   JOURNAL OF BIOLOGICAL PHYSICS

ExoCarta: A Web-Based Compendium of Exosomal Cargo

(2016) Shivakumar Keerthikumar et al.   JOURNAL OF MOLECULAR BIOLOGY

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

Fragile X-associated tremor/ataxia syndrome — features, mechanisms and management

(2016) Randi J. Hagerman et al.   Nature Reviews Neurology

The LC Domain of hnRNPA2 Adopts Similar Conformations in Hydrogel Polymers, Liquid-like Droplets, and Nuclei

(2015) Siheng Xiang et al.   CELL

Phase Separation by Low Complexity Domains Promotes Stress Granule Assembly and Drives Pathological Fibrillization

(2015) Amandine Molliex et al.   CELL

A Liquid-to-Solid Phase Transition of the ALS Protein FUS Accelerated by Disease Mutation

(2015) Avinash Patel et al.   CELL

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

Formation and Maturation of Phase-Separated Liquid Droplets by RNA-Binding Proteins

(2015) Yuan Lin et al.   MOLECULAR CELL

High-Throughput Screening to Identify Compounds That Increase Fragile X Mental Retardation Protein Expression in Neural Stem Cells Differentiated From Fragile X Syndrome Patient-Derived Induced Pluripotent Stem Cells

(2015) Daman Kumari et al.   Stem Cells Translational Medicine

Liquid-Liquid Phase Separation in Biology

(2014) Anthony A. Hyman et al.   Annual Review of Cell and Developmental Biology

PLAAC: a web and command-line application to identify proteins with prion-like amino acid composition

(2014) A. K. Lancaster et al.   BIOINFORMATICS

TDP-43 suppresses CGG repeat-induced neurotoxicity through interactions with HnRNP A2/B1

(2014) Fang He et al.   HUMAN MOLECULAR GENETICS

Acceleration of α-Synuclein Aggregation by Exosomes

(2014) Marie Grey et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

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

Peripheral administration of tau aggregates triggers intracerebral tauopathy in transgenic mice

(2013) Florence Clavaguera et al.   ACTA NEUROPATHOLOGICA

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

(2013) Peter K. Todd et al.   NEURON

Sumoylated hnRNPA2B1 controls the sorting of miRNAs into exosomes through binding to specific motifs

(2013) Carolina Villarroya-Beltri et al.   Nature Communications

Sequestration of DROSHA and DGCR8 by Expanded CGG RNA Repeats Alters MicroRNA Processing in Fragile X-Associated Tremor/Ataxia Syndrome

(2013) Chantal Sellier et al.   Cell Reports

The tip of the iceberg: RNA-binding proteins with prion-like domains in neurodegenerative disease

(2012) Oliver D. King et al.   BRAIN RESEARCH

Cell-free Formation of RNA Granules: Low Complexity Sequence Domains Form Dynamic Fibers within Hydrogels

(2012) Masato Kato et al.   CELL

CGG trinucleotide repeat length modulates neural plasticity and spatiotemporal processing in a mouse model of the fragile X premutation

(2012) Michael R. Hunsaker et al.   HIPPOCAMPUS

Clustered burst firing in FMR1 premutation hippocampal neurons: amelioration with allopregnanolone

(2012) Zhengyu Cao et al.   HUMAN MOLECULAR GENETICS

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

Sam68 sequestration and partial loss of function are associated with splicing alterations in FXTAS patients

(2010) Chantal Sellier et al.   EMBO JOURNAL

A Systematic Survey Identifies Prions and Illuminates Sequence Features of Prionogenic Proteins

(2009) Simon Alberti et al.   CELL