Toxicity of pathogenic ataxin-2 in Drosophila shows dependence on a pure CAG repeat sequence

On the wrong DNA track: Molecular mechanisms of repeat-mediated genome instability

(2020) Alexandra N. Khristich et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

RAN Translation of the Expanded CAG Repeats in the SCA3 Disease Context

(2020) Magdalena Jazurek-Ciesiolka et al.   JOURNAL OF MOLECULAR BIOLOGY

Deregulated Splicing Is a Major Mechanism of RNA-Induced Toxicity in Huntington's Disease

(2019) Judith Schilling et al.   JOURNAL OF MOLECULAR BIOLOGY

Repeat-Associated Non-ATG Translation: Molecular Mechanisms and Contribution to Neurological Disease

(2019) Lien Nguyen et al.   Annual Review of Neuroscience

Toxic expanded GGGGCC repeat transcription is mediated by the PAF1 complex in C9orf72-associated FTD

(2019) Lindsey D. Goodman et al.   NATURE NEUROSCIENCE

Spinocerebellar ataxia

(2019) Thomas Klockgether et al.   Nature Reviews Disease Primers

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

Repeat-associated non-AUG (RAN) translation mechanisms are running into focus for GGGGCC-repeat associated ALS/FTD

(2019) Lindsey D. Goodman et al.   PROGRESS IN NEUROBIOLOGY

Role for ATXN1, ATXN2, and HTT intermediate repeats in frontotemporal dementia and Alzheimer's disease

(2019) Irene Rosas et al.   NEUROBIOLOGY OF AGING

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

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

Interrupted CAG expansions in ATXN2 gene expand the genetic spectrum of frontotemporal dementias

(2018) Clémence Fournier et al.   Acta Neuropathologica Communications

Therapeutic reduction of ataxin-2 extends lifespan and reduces pathology in TDP-43 mice

(2017) Lindsay A. Becker et al.   NATURE

Polyglutamine spinocerebellar ataxias — from genes to potential treatments

(2017) Henry L. Paulson et al.   NATURE REVIEWS NEUROSCIENCE

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

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

Ataxin-2: From RNA Control to Human Health and Disease

(2017) Lauren Ostrowski et al.   Genes

Disease-associated repeat instability and mismatch repair

(2016) Monika H.M. Schmidt et al.   DNA REPAIR

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

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

(2016) N. J. Kramer et al.   SCIENCE

DNA Triplet Repeat Expansion and Mismatch Repair

(2015) Ravi R. Iyer et al.   Annual Review of Biochemistry

RAN Translation in Huntington Disease

(2015) Monica Bañez-Coronel et al.   NEURON

Effects on Murine Behavior and Lifespan of Selectively Decreasing Expression of Mutant Huntingtin Allele by Supt4h Knockdown

(2015) Hui-Min Cheng et al.   PLoS Genetics

Repeat Associated Non-AUG Translation (RAN Translation) Dependent on Sequence Downstream of the ATXN2 CAG Repeat

(2015) Daniel R. Scoles et al.   PLoS One

FTLD-ALS of TDP-43 type and SCA2 in a family with a full ataxin-2 polyglutamine expansion

(2014) Dirk Bäumer et al.   ACTA NEUROPATHOLOGICA

Amyotrophic Lateral Sclerosis Risk for Spinocerebellar Ataxia Type 2ATXN2CAG Repeat Alleles

(2014) Annalese G. Neuenschwander et al.   JAMA Neurology

Therapeutic modulation of eIF2α phosphorylation rescues TDP-43 toxicity in amyotrophic lateral sclerosis disease models

(2013) Hyung-Jun Kim et al.   NATURE GENETICS

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

(2013) Peter E.A. Ash et al.   NEURON

Clinical features, neurogenetics and neuropathology of the polyglutamine spinocerebellar ataxias type 1, 2, 3, 6 and 7

(2013) Udo Rüb et al.   PROGRESS IN NEUROBIOLOGY

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

(2013) K. Mori et al.   SCIENCE

Mechanisms of RNA-induced toxicity in CAG repeat disorders

(2013) R Nalavade et al.   Cell Death & Disease

Distinct TDP-43 pathology in ALS patients with ataxin 2 intermediate-length polyQ expansions

(2012) Michael P. Hart et al.   ACTA NEUROPATHOLOGICA

Triplet repeats in transcripts: structural insights into RNA toxicity

(2012) Paulina Galka-Marciniak et al.   BIOLOGICAL CHEMISTRY

Spt4 Is Selectively Required for Transcription of Extended Trinucleotide Repeats

(2012) Chia-Rung Liu et al.   CELL

Expanded ATXN3 frameshifting events are toxic in Drosophila and mammalian neuron models

(2012) Shawn J. Stochmanski et al.   HUMAN MOLECULAR GENETICS

Spinocerebellar Ataxia Type 2: Clinical Presentation, Molecular Mechanisms, and Therapeutic Perspectives

(2012) J. J. Magaña et al.   MOLECULAR NEUROBIOLOGY

ATXN-2 CAG repeat expansions are interrupted in ALS patients

(2011) Lucia Corrado et al.   HUMAN GENETICS

Double-stranded RNA is pathogenic in Drosophila models of expanded repeat neurodegenerative diseases

(2011) Kynan T. Lawlor et al.   HUMAN MOLECULAR GENETICS

Protein interacting with C kinase (PICK1) is a suppressor of spinocerebellar ataxia 3-associated neurodegeneration in Drosophila

(2011) Leeanne McGurk et al.   HUMAN MOLECULAR GENETICS

Triplet repeat RNA structure and its role as pathogenic agent and therapeutic target

(2011) W. J. Krzyzosiak et al.   NUCLEIC ACIDS RESEARCH

Triplet Repeat–Derived siRNAs Enhance RNA–Mediated Toxicity in a Drosophila Model for Myotonic Dystrophy

(2011) Zhenming Yu et al.   PLoS Genetics

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

(2010) Andrew C. Elden et al.   NATURE

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

Somatic expansion of the Huntington's disease CAG repeat in the brain is associated with an earlier age of disease onset

(2009) Meera Swami et al.   HUMAN MOLECULAR GENETICS

RNA toxicity is a component of ataxin-3 degeneration in Drosophila

(2008) Ling-Bo Li et al.   NATURE

The Vienna RNA Websuite

(2008) A. R. Gruber et al.   NUCLEIC ACIDS RESEARCH